As expertise with bone marrow transplantation has increased, this treatment has been applied to a wider variety of disorders, including some which do not primarily affect the bone marrow. At the University of Minnesota, within an NIH-funded program, we have performed bone marrow transplantation to treat significant numbers of patients with adrenoleukodystrophy, Hurler syndrome, and metachromatic leukodystrophy. These disorders are all characterized by progressive neurological deterioration with dementia, usually in infancy or childhood and all are caused by an inherited deficiency of a single enzyme. Bone marrow transplantation from a normal donor (either an unaffected sibling or family member or an HLA-matched unrelated donor) can provide replacement of the missing enzyme through the monocyte-phagocyte system. Patients show stabilization of mental ability after successful transplantation and those transplanted in the earliest stages of the disease actually demonstrate an improvement in mental abilities. In contrast to these encouraging outcomes, patients with the late infantile form of the disease who have been transplanted after the onset of significant neurological disease have continued to show neurological decline to the point of incapacitation.

Hugo Moser, perhaps the foremost specialist on peroxisomal disorders. In addition the clinic has a central function in the care and treatment of patients with various peroxisomal disorders in cluding Infantile Refsum's Disease. Manuela Martinez, a physician providing a new treatment for patients with peroxisomal disorders. Robert Steiner, Ian's physician, who has kindly volunteered to help refer parents to knowledgable specialists in their area of the world. http://www.pcnet.com/~orphan/ * http://wonder.mit.edu/ok/ *

These exogenous chemicals are used as a tool to better appreciate cellular biology and understanding how they interact with the cell may ultimately help to explain their toxic and/or carcinogenic effects. Upon activation of PPAR by peroxisome proliferators this receptor has been shown to recognize distinct DNA sequences (peroxisome proliferator-responsive elements or PPREs) found upstream of target genes. We are also pursuing the identification of novel genes under the control of PPAR which may better explain the effects of peroxisome proliferators on cell growth and differentiation. In addition, PPAR has been cloned, expressed and purified in the our lab which will greatly enhance the biochemical characterization of this protein. Currently we have identified several clones which interact with PPAR in these assays, although the role of each of these proteins in regulating the function of PPAR is yet to be determined. In Press Sewall, C.H., Flagler, N., Vanden Heuvel, J.P. and Lucier, G.W. (1995) Alterations in thyroid function in female Sprague-Dawley rats following chronic treatment with 2,3,7,8-tetrachlorodibenzo-p-dioxin.

Detection of antibodies to trans-activator protein (p40taxI) of human T-cell lymphotropic virus type I by a synthetic peptide-based assay. Antibodies to human T-cell lymphotropic virus type I (HTLV-I) trans-activator protein (p40taxI) were determined in serum specimens from individuals infected with HTLV-I (n = 138) and HTLV-II (n = 19). Western blot (immunoblot) analysis using recombinant tax demonstrated the presence of anti-tax antibodies in 96% of patients (25 of 26) with HTLV-I-associated myelopathy, 43% of those (20 of 46) with adult T-cell leukemia, and 61% of asymptomatic HTLV-I blood donors (40 of 66); only one of the HTLV-II specimens reacted with the recombinant tax protein. An enzyme immunoassay using an equimolar ratio of these four peptides allowed sensitive detection of anti-tax antibodies in 96% of patients (25 of 26) with HTLV-1-associated myelopathy, 52% of adult T-cell leukemia patients (24 of 46), and 62% of asymptomatic HTLV-1-infected donors (41 of 66). The synthetic peptide-based cocktail assay was HTLV-I specific, since none of the HTLV-II-infected specimens reacted with these peptides. Interestingly, the corresponding regions from the HTLV-II tax protein, Tax8II(106-125), and Tax-22II(312-331) did not react with either HTLV-II or HTLV-I specimens.

Glaxo Wellcome and Healthcare - Global    64%    [find similar] OMIM Update List for November, 1996    64%    [find similar] OMIM Update List for January, 1997    61%    [find similar] Medline references for fat    61%    [find similar] KPR: Hereditary Kidney Diseases    61%    [find similar] The American Journal of Human Genetics    60%    [find similar]

----------------------------------------------------------------- I have a daughter, Megan. Megan is now 15 months old. Manuela Martinez in Barcelona, Spain, and we are travelling to the Cincinnati Children's Hospital next week where she will also commence primary bile acid treatment supplied by Dr. If they do not have much of an effect, Megan might live until she is an adult but she is blind, deaf, and may never reach a mental age greater than 1 year. Due to this extremely dismal prognosis and lacking much hope for even a fair if not good life, her father and I are willing to take risks in seeking treatment for her. After a fair amount of reading of medical journals, it seems to me that the only cure for Megan and her chance of having a life lies in gene therapy.

A disorder of peroxisomes transmitted as a X-linked trait characterized by the accumulation of saturated very long chain fatty acids (VLCFA) resulting in the progressive dysfunction of CNS white matter and the adrenal cortex. incidence: 1/100,000 age of onset: 4 to 8 years of age risk factors: familial - x-linked recessive chrom. considered to be a disorder of lipid metabolism and particularly the peroxisomes; also considered a storage disorder deficiency in the peroxisomal enzyme that catalyzes the formation of Co-A derivatives of VLCFA (lignoceroyl-CoA ligase) results in the accumulation of saturated, unbranched VLCFA in the rER of tissues throughout the body, particularly hexacosanoic (C26:0), pentacosanoic (C25:0), tetracosanoic (C24:0) the genetic defect may not be due to a mutant ligase gene but instead due to a deficiency in a peroxisomal membrane protein needed to import the ligase into the peroxisome (ATP-binding transporter protein) particularly affected is the: age of onset: 4-8 years (mean = 7.2 years, as early as 2 years) affected children develop normally up until 3-4 years of age tends to progress rapidly with increased spasticity and paralysis, visual and hearing loss, and bulbar musculature dysfunction (loss of ability to speak +/- swallow), cognitive loss -> vegetative state mean interval between onset of neurologic symptoms and the vegetative state is 1.9 +/- 2 years may continue in vegetative state for >10 years very high levels of VLCFA in the plasma, RBC, and cultured skin fibroblasts is diagnositic: positive in 100% of affected males positive in 85% of carrier females high levels of C26 abnormal ratio of C26:C22 and C24:C22 fatty acids 15% of obligate carriers will test within the normal range

The import receptor for the peroxisomal targeting signal 2 (PTS2) in Saccharomyces cerevisiae is encoded by the PAS7 gene The import receptor for the peroxisomal targeting signal 2 (PTS2) in Saccharomyces cerevisiae is encoded by the PAS7 gene Kunau1 Institut fur Physiologische Chemie der Ruhr-Universitat Bochum, Medizinische Fakultat, Abteilung fur Zellbiochemie, D-44780 Bochum, Germany and 1Corresponding author ABSTRACTThe import of peroxisomal matrix proteins is dependent on one of two targeting signals, PTS1 and PTS2. We demonstrate in vivo that not only the import of thiolase but also that of a chimeric protein consisting of the thiolase PTS2 (amino acids 1-18) fused to the bacterial protein [beta]-lactamase is Pas7p dependent. In addition, using a combination of several independent approaches (two-hybrid system, co-immunoprecipitation, affinity chromatography and high copy suppression), we show that Pas7p specifically interacts with thiolase in vivo and in vitro. Pas7p recognizes the PTS2 of thiolase even when this otherwise N-terminal targeting signal is fused to the C-terminus of other proteins, i.e. the activation domain of Ga14p or GST. These results demonstrate that Pas7p is the targeting signal-specific receptor of thiolase in Saccharomyces cerevisiae and, moreover, are consistent with the view that Pas7p is the general receptor of the PTS2. Our observation that Pas7p also interacts with the human peroxisomal thiolase suggests that in the human peroxisomal disorders characterized by an import defect for PTS2 proteins (classical rhizomelic chondrodysplasia punctata), a functional homologue of Pas7p may be impaired. Keywords:3-oxoacyl-CoA thiolase/peroxisomal targeting signal/peroxisome/receptor/Saccharomyces cerevisiae Pages: 2901 - 2913 Part of the OUP EMBO Journal WWW service

The precise role(s) of the various FABP types is still not known with certainly, but it is generally assumed that the principal role of such protein is to facilitate the intracellular trafficking of FA. In this way FABP may facilitate the cellular uptake and transcytoplasmic transport of FA to either the mitochondrial, peroxisomal or microsomal site of FA activation. FABP may also modulate the activity of enzymes involved in lipid metabolism and protect cellular enzymes and membranes from potential adverse effects of FA. In addition to the role of FABPs in facilitating the bulk cellular transport of FA, there are growing evidences that FABP maybe involved in the synthesis of lipophilic compounds (FA, eicosanoids, prostaglandins etc) by enhancing product removal and thus preventing feedback inhibition. Finally, FABP may facilitate the supply of the substrate for lipid modification of certain proteins involved in signal transduction, such as G proteins. Chicken granulosa FABP, partially purified from cytosolic fractions, cross-reacted with polyclonal antibodies raised against rat- heart, rat adipose, and chicken retina FABP.

93%   http://www.icondata.com/health/pedbase/files/ZELLWEGE.HTM 91%   http://www.icondata.com/health/pedbase/files/ADRENOLE.HTM 84%   Predoctoral student positions / PhD student positions by. 84%   http://www.leeds.ac.uk/bmb/research/studentships.html 84%   books:physicians guide to the laboratory diagnosis of. 84%   A Brief Explanation of the key fields of YPD

Our research interests centre around inborn errors of metabolism and their diagnosis but also include the study of the control of beta-oxidation (the oxidation of fatty acids) in health and disease and protein turnover studies in children undergoing chemotherapy for cancer. Staff Recent Publications Facilities and services Links to other related servers DEPARTMENTAL WHAT'S ON One system has a photodiode array detector and the other has either a UV or fluorimetric detector. University of Newcastle-upon-Tyne Home Page Faculty of Medicine Computing Centre University Central Scientific Facilities Mass Spectrometry Unit World Wide Web Virtual Library for the Biosciences EC-Enzyme Site Klotho Metabolic Compounds Database Metabolic Pathways Homepage Collaborative Clickable Biology Metabolic Regulation FTP server (Brookes University) Bionet.metabolic-regulation Newsgroup OMIM -- Online Mendelian Inheritance in Man European Journal of Paediatrics PEDIATRICS INFO Home Page National Association for Rare Disorders (US) Inborn Errors Mailbase KUMC Genetics Education CenterGAUCHER DISEASE (US) Association of Clinical Biochemists UCSD Biochemical Genetics Great Ormond Street Hospital/Institute of Child Health Points of Pediatric Interest Rare Genetic Diseases in Children Sudden Infant Death Syndrome Homepage Gauchers Association, UK National Association for Rare Disorders (US-Based) Pearson Syndrome Association for Glycogen Storage Disease (UK-Based) Metab-L Mailing List Home Pages Journal of Inherited Metabolic Disease Archives of Disease in Childhood Australasian Referral Laboratory for the Diagnosis of Lysosomal, Peroxisomal and other genetic disorders. If you have any comments, enquiries or feedback, then please e-mail me, Tim Bursby. Feedback form for those for whom mailto: does not work Please enter your e-mail address: Please enter any comments or enquiries:

OVERVIEW The General Clinical Research Center (GCRC) is one of 75 centers nationwide funded by the National Institutes of Health. Its mission is to provide facilities and resources for investigators to execute high-quality patient-oriented research. The GCRC is a collaborative effort between Children's Hospital Medical Center and the University of Cincinnati Medical Center. The GCRC, located on the third floor of the Children's Hospital building, includes an eight-bed inpatient and ambulatory care facility in which infants, children, and medically stable adults can be hospitalized for research studies. After IRB approval, the protocol is submitted to the GCRC Scientific Advisory Committee (SAC) with a completed protocol submission form which may be obtained from the GCRC Program Coordinator or Research Coordinator. The entire staff of the GCRC works together as a team to provide a high-quality research environment.

Inborn errors of mitochondrial energy metabolism Genetics defects in mitochondrial enzymes and electron transport complexes are a significant cause of neuromuscular and metabolic disease in infancy and early childhood. From studies of basic mutations and their biochemical consequences in patients with these disorders, we aim to build up a comprehensive picture of the organisation and expression of the genes for specific components of mitochondrial enzyme complexes and the assembly, structure and function of their protein products. Current projects are mainly concerned with genetic defects of the pyruvate dehydrogenase complex and the biochemical and genetic basis of Leigh's syndrome, neurodegenerative disease of young children in which a characteristic pattern of brain pathology appears to be the end result of a variety of different metabolic abnormalities which compromise energy generation. Brown, R.M., Fraser, N.J., Brown, G.K. (1990) Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene. Brown, R.M., Brown, G.K. (1993) X chromosome inactivation and the diagnosis of X linked disease in females. Current research involves four major topics a) characterizing the cloned cDNA and genomic DNA; b) making and analysing mutants of the Drosophila Golgi mannosidase II gene, in order to determine the role played by the product of the enzyme in the biology of Drosophila; c) studying the effect of the ectopic expression of the gene after P element mediated transformation of suitable constructs; d) using similar techniques to clone other Drosophila genes involved in N-linked glycosyaltion.

First, once a gene has been cloned it is possible to microdissect it and correlate the particular causative mutation with the patient's phenotype. Second, DNA probes are providing the tools to find microdeletions (the term used when the loss of genetic material from a chromosome is too small to detect with the most powerful light microscopes) which can be used to refine the localization of disease genes. A group of researchers at the University of Munich have studied the gene responsible for the most common peroxisomal disorder, X linked adrenoleukodystrophy, and have been able to show that specific mutations are associated with widely disparate disease states (1). After the gene was cloned in 1993 the Munich researchers embarked on a plan to investigate the entire coding region of the ALD protein; that is they conducted a nucleotide analysis of that portion of the DNE that defined the protein defects in which cause the disease. In three patients with the severe cerebral form of the disease they found two different deletions; one had lost 38 nucleotides which caused a frameshift mutation, the other had lost three nucleotides, resulting in the failure to incorporate one amino acid into an important part of the protein, and the third had a missense mutation (a single base pair change that altered the message to the cell as to what amino acid should be inserted into a particular spot in the protein, calling for a proline instead of a leucine. Using linkage analysis, the correlation of DNA markers with the segregation of disease among family members, researchers have recently shown that one causative gene must reside on chromosome 16.

This report is from the Yeast Protein Database maintained by James I. Garrels at Proteome Inc. YPD is updated daily and can be SEARCHed by gene name, keywords, and protein properties. -- has an SH3 domain that interacts with PTS1 receptor Pex5p, which | -- null mutant is defective in import of peroxisomal matrix proteins | -- null mutant cannot use fatty acids as sole carbon source (26766, | Note: The construction of the YPD database is an ongoing project, and we cannot guarantee that all relevant annotations and citations are included.

(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank. goto gi 453529 2 Y 459 2.8e-41 catalase [Helianthus annuus] goto pir S17493 2 Y 458 5.3e-41 catalase (EC 1.11.1.6) - upland cotton

(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank. goto pir S17493 3 Y 373 7.3e-32 catalase (EC 1.11.1.6) - upland cotton

(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank. Score P-value Description ---- -- --- -- ------ ----- ------- ----------- goto gi 862456 3 Y 533 2.2e-50 catalase [Cucurbita pepo] goto gi 218322 3 Y 533 2.2e-50 catalase [Vigna radiata] goto gi 862454 3 Y 532 2.8e-50 catalase [Cucurbita pepo] goto gi 453529 3 Y 529 5.6e-50 catalase [Helianthus annuus] goto pir S17493 3 Y 528 7.0e-50 catalase (EC 1.11.1.6) - upland cotton

(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank. Score P-value Description ---- -- --- -- ------ ----- ------- ----------- goto gi 862454 3 N 459 2.7e-40 catalase [Cucurbita pepo] goto gi 862456 3 N 458 3.4e-40 catalase [Cucurbita pepo] goto gi 218322 3 N 455 6.6e-40 catalase [Vigna radiata] goto gi 453529 3 N 450 2.0e-39 catalase [Helianthus annuus] goto pir S17493 3 N 449 2.5e-39 catalase (EC 1.11.1.6) - upland cotton

This report is from the Yeast Protein Database maintained by James I. Garrels at Proteome Inc. YPD is updated daily and can be SEARCHed by gene name, keywords, and protein properties. N-term seq (mature): msdvvsk | -- runs at 30 kDa and 38 kDa on SDS gels (51312) | -- 38 kDa band is extremely sensitive to proteases, while the 30 kDa | Note: The construction of the YPD database is an ongoing project, and we cannot guarantee that all relevant annotations and citations are included.

(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. The function of this Sequence can possibly be determined by the following BLASTX, BLASTN, AND/OR BLASTP hits. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank.

(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. Translated Protein: start = 39, end = 55 Corresponding DNA : start = 117, end = 167 Translated Protein: start = 4, end = 14 Corresponding DNA : start = 12, end = 44 Go to Blastp Results Summary Go to Detailed Blastp Results Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank.

Go back to top FUNCTION DESCRIPTION EXAMPLE OUTPUT PROSITE ABSTRACTS RELATED PROGRAMS RESTRICTIONS MISMATCHES INPUT FILE FREQUENT MOTIFS SUGGESTIONS CONSIDERATIONS DEFINING PATTERNS Implied Sets and Repeat Counts OR Matching NOT Matching Begin and End Constraints SEQUENCE TYPE COMMAND-LINE SUMMARY Prompted Parameters: Local Data Files: Optional Parameters: ACKNOWLEDGEMENTS LOCAL DATA FILES OPTIONAL PARAMETERS -NOREFerences -FREquent -NAMes -SHOw -MISmatch=1 -APPend -ONCe -MINCuts=2 -MAXCuts=2 -EXCLude=n1,n2[n3,n4,. Motifs looks for sequence motifs by searching through proteins for the patterns defined in the PROSITE Dictionary of Protein Sites and Patterns. Motifs can display an abstract of the current literature on each of the motifs it finds. Motifs looks for protein sequence motifs by checking your protein sequence for every sequence pattern in the PROSITE Dictionary. For instance, the pattern GATG{2,}A means GAT, followed by G repeated from 2 to 350,000 times, followed by A; the pattern GATG{}A means GAT, followed by G repeated from 0 to 350,000 times, followed by A; the pattern GAT(TG){,2}A means GAT, followed by TG repeated from 0 to 2 times, followed by A. (If the pattern in the parentheses is an OR expression (see below), it cannot be repeated more than 2,000 times. -NOREFerence suppresses the PROSITE abstract for each pattern found -FREquent shows motifs that are frequently found in proteins -MISmatch=1 allows one mismatch -NAMes writes output file in file-of-sequence-names format -APPend appends the pattern data file to your output file -SHOw shows every file searched, even if no pattern was found -ONCe limits finds to patterns found only once -MINCuts=2 limits finds to patterns found a minimum of 2 times -MAXCuts=3 limits finds to patterns found a maximum of 3 times -EXCLude=n1,n2 excludes patterns found between positions n1 and n2 -NOMONitor suppresses the screen trace showing each file -NOSUMmary suppresses the screen summary at the end of the program

Go back to top FUNCTION DESCRIPTION EXAMPLE OUTPUT PROSITE ABSTRACTS RELATED PROGRAMS RESTRICTIONS MISMATCHES INPUT FILE FREQUENT MOTIFS SUGGESTIONS CONSIDERATIONS DEFINING PATTERNS Implied Sets and Repeat Counts OR Matching NOT Matching Begin and End Constraints SEQUENCE TYPE COMMAND-LINE SUMMARY Prompted Parameters: Local Data Files: Optional Parameters: ACKNOWLEDGEMENTS LOCAL DATA FILES OPTIONAL PARAMETERS -NOREFerences -FREquent -NAMes -SHOw -MISmatch=1 -APPend -ONCe -MINCuts=2 -MAXCuts=2 -EXCLude=n1,n2[n3,n4,. Motifs looks for sequence motifs by searching through proteins for the patterns defined in the PROSITE Dictionary of Protein Sites and Patterns. Motifs can display an abstract of the current literature on each of the motifs it finds. Motifs looks for protein sequence motifs by checking your protein sequence for every sequence pattern in the PROSITE Dictionary. For instance, the pattern GATG{2,}A means GAT, followed by G repeated from 2 to 350,000 times, followed by A; the pattern GATG{}A means GAT, followed by G repeated from 0 to 350,000 times, followed by A; the pattern GAT(TG){,2}A means GAT, followed by TG repeated from 0 to 2 times, followed by A. (If the pattern in the parentheses is an OR expression (see below), it cannot be repeated more than 2,000 times. -NOREFerence suppresses the PROSITE abstract for each pattern found -FREquent shows motifs that are frequently found in proteins -MISmatch=1 allows one mismatch -NAMes writes output file in file-of-sequence-names format -APPend appends the pattern data file to your output file -SHOw shows every file searched, even if no pattern was found -ONCe limits finds to patterns found only once -MINCuts=2 limits finds to patterns found a minimum of 2 times -MAXCuts=3 limits finds to patterns found a maximum of 3 times -EXCLude=n1,n2 excludes patterns found between positions n1 and n2 -NOMONitor suppresses the screen trace showing each file -NOSUMmary suppresses the screen summary at the end of the program

Title: Peroxisomal fatty acid oxidation as detected by H2O2 production in intact perfused rat liver. H2O2 formation associated with the metabolism of added fatty acids was quantitatively determined in isolated haemoglobin-free perfused rat liver (non-recirculating system) by two different methods. 11, 172-176] was used to detect H2O2 formation (a) by steady-state titration with added hydrogen donor, methanol or (b) by comparison of fatty-acid responses with those of the calibration compound, urate. The yield of H2O2 formation, expressed as the rate of H2O2 formation in relation to the rate of fatty-acid supply, was less than 1.0 in all cases, indicating that, regardless of chain length, less than one acetyl unit was formed per mol of added fatty acid by the peroxisomal system. Long-chain monounsaturated fatty acids exhibit a relatively high yield of H2O2 formation. However, the observed rates of H2O2 production with fatty acids can account for a considerable share of the endogenous H2O2 production found in the intact animal Major Indexes: Fatty Acids [metabolism] Hydrogen Peroxide [metabolism] Liver [metabolism] Microbodies [metabolism] Organoids [metabolism] Minor Indexes: Alcohol, Methyl [metabolism] Antilipemic Agents [pharmacology] Catalase [metabolism] Clofibric Acid [analogs & derivatives] [pharmacology] Liver [drug effects] Oxidation-Reduction Perfusion Rats, Inbred Strains Rats Reagent Names: EC 1.11.1.6 (Catalase) 0 (Antilipemic Agents) 0 (Fatty Acids) 41859-67-0 (Bezafibrate) 67-56-1 (Alcohol, Methyl) 7722-84-1 (Hydrogen Peroxide) 882-09-7 (Clofibric Acid) Language: English

Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence 388 original bp (1.8% unknown bases), reduced to 388 bp (1.8% unknown bases). Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. The function of this Sequence can possibly be determined by the following BLASTX, BLASTN, AND/OR BLASTP hits. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank.

Michael Forstner     57%    [find similar] Genetic Laboratories     51%    [find similar] Glaxo Wellcome and Healthcare - Global    46%    [find similar] OMIM Update List for November, 1996    44%    [find similar] Medline references for fat    43%    [find similar] RU SEP: Blobel    43%    [find similar]

Jiang, L.L., Kobayashi, A., Matsuura, H., Fukushima, H., and Hashimoto, T. (1996) Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: Medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. 265, 13629-13634 [Medline] Cook, L., Nagi, M.N., Suneja, S.K., Hand, A.R., and Cinti, D.L. (1992) Evidence that ß-hydroxyacyl-CoA dehydrase purified from rat liver microsomes is of peroxisomal origin. 268, 21578-21585 [Medline] Osumi, T. and Hashimoto, T. (1980) Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver. , and Kamin, H. (1967) The preparation and properties of microsomal TPNH-cytochrome c reductase from pig liver in Methods in Enzymology (Estabrook, R.W. and Pullman, M.E., eds. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. 12, 403-406 Osumi, T., Hashimoto, T., and Ui, N. (1980) Purification and properties of acyl-CoA oxidase from rat liver.

Title: Time-dependent effects of the hypolipidemic agent clofibrate on peroxisomes and mitochondria in mouse hepatocytes. Source: J Submicrosc Cytol Pathol 1991 Apr;23(2):185-94 Abstract: Mice of the NMRI strain were fed a diet containing 0.5% clofibrate up to 25 days to study its effect on peroxisomes and mitochondria in the hepatocytes. Liver samples were analyzed by electron microscopy after cytochemical staining for catalase using diaminobenzidine in order to detect all peroxisomes for a quantitative analysis. The number of peroxisomal profiles increased 3- to 4-fold at maximal proliferation and their average area nearly doubled, hence the number of peroxisomes with large diameters was increased making a 5-fold increase within the total cytoplasmic area. The size distribution of the peroxisomes was changed at day two of treatment to a more spread and even distribution going up in a higher size range. Mouse hepatocytes thus seem to be a good system for studies on peroxisomal biogenesis as is their counterpart in rats, although they differ in their levels of various peroxisomal enzymes Major Indexes: Clofibrate [pharmacology] Liver [ultrastructure] Microbodies [drug effects] Mitochondria, Liver [drug effects] Minor Indexes: Catalase [metabolism] Fatty Acids [metabolism] Histocytochemistry Mice Microbodies [metabolism] [ultrastructure] Microscopy, Electron Mitochondria, Liver [metabolism] [ultrastructure] Time Factors Reagent Names: EC 1.11.1.6 (Catalase) 0 (Fatty Acids) 637-07-0 (Clofibrate) Language: English

CONTENT SUMMARY (for 4305 proteins in Release 4.1) Includes: GenBank entries through July 30 , 1995 SWISS-PROT entries through May 23, 1995 PIR-International entries from Release 43 4305 TOTAL SEQUENCES 3789 Sequences from systematic sequencing projects 2012 Protein characterized through genetics or biochemistry. These proteins have descriptions such as "Protein with similarity to". 1564 Proteins of unknown function. These proteins have descriptions starting with "Protein of unknown function". a. Of the 2012 proteins known from genetic or biochemical studies: 477 (22.2%) Nuclear 386 (19.2%) Cytoplasmic 249 (12.4%) Mitochondrial 95 (4.7%) Plasma membrane 60 (3.0%) Endoplasmic reticulum 49 (2.4%) Unspecified membrane 48 (2.4%) Cytoskeletal 36 (1.8%) Extracellular or cell wall 30 (1.5%) Vacuolar 22 (1.1%) Vesicles of secretory pathway 25 (1.2%) Golgi 17 (0.8%) Peroxisomal 518 (25.7%) Unknown Note: The unknown category contains many metabolic and housekeeping proteins are likely to be cytoplasmic, but definitive studies on their localization are difficult to find. N-terminal modifications 81 (4.0%) Known to be N-terminally acetylated 103 (5.1%) Known to be N-terminally unmodified 8 (0.4%) Known to be N-myristylated 1820 (90.5%) N-terminal status unknown C-terminal modifications 10 (0.5%) Known to be farnesylated 10 (0.5%) Known to be geranylgeranylated 10 (0.5%) Known to have GPI anchors Phosphorylation 134 (6.7%) Known to be phosphorylated Glycosylation 49 (2.4%) Known to be N-glycosylated only 18 (0.9%) Known to be O-glycosylated only 4 (0.2%) Known to be N- and O-glycosylated Precursors 235 (11.7%) Known to have N-terminal precursor peptide 206 (10.2%) Known to have N-met removal only 78 (3.9%) Known to have no precursor peptide and no N-met removal b. Of the 2741 proteins known by genetics, biochemistry or homology By molecular environment 334 (12.7%) Integral membrane 341 (12.4%) DNA-associated (not necessarily direct DNA-binding) 146 (5.3%) Ribosomal 88 (3.2%) Peripheral membrane 90 (3.3%) RNA-associated 40 (1.5%) Protein synthesis factors 15 (0.5%) Actin cytoskeleton-associated 13 (0.5%) Tubulin cytoskeleton-associated By functional category 136 (5.0%) Transcription factors 94 (3.4%) Protein kinases 63 (2.3%) Enzymes of amino acid metabolism 44 (1.6%) GTPases 31 (1.1%) Heat shock 33 (1.2%) tRNA synthetases 29 (1.1%) Protein phosphatases 26 (0.9%) Proteases other than proteasome subunits 21 (0.8%) Conserved ATPase domain family (SEC18/PAS1/SUG1/YME1) 16 (0.6%) Enzymes of glucose metabolism 21 (0.8%) Serine-alanine-rich proteins (Srp1/Tip1p family) 16 (0.6%) Cyclins 14 (0.5%) Proteasome components 10 (0.4%) Ubiquitin-conjugating enzymes 9 (0.3%) GTPase-activating proteins 8 (0.3%) Guanine nucleotide exchange factors

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(A collaboration between the University of Minnesota and Michigan State University, funded by NSF) For further information regarding this work, go to the University of Minnesota's Computational Biology Centers' Home Page Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Hits in a frame will be displayed if and only if there were low complexity regions within the BLASTX hits for any given frame. The function of this Sequence can possibly be determined by the following BLASTX, BLASTN, AND/OR BLASTP hits. Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank.

WAIS search of nsf-awards Search of nsf-awards returned the following items for query "pectate lyase", on June 14, 1996

Our laboratory focuses on understanding the molecular basis of the peroxisome biogenesis disorders (PBD), a group of diseases in which the cell is unable to direct newly-synthesized peroxisomal proteins to, and into, the peroxisome. This has led to the isolation of yeast mutants that display the same biochemical defects as cells from PBD patients: an inability to direct newly-synthesized peroxisomal proteins from the cytoplasm and into the peroxisome. As a result, we have implemented biochemical and genetic approaches to the analysis of peroxisomal protein import using both yeast and human cell systems Crane, D.I., Kalish, J. And Gould, S.J. (1994) the Pichia pastoris PAS4 gene encodes a ubiquitin-conjugating enzyme required for peroxisome assembly. Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H.W., Valle, D., and Gould, S.J. (1995) PXR1 encodes a predominantly cystolic receptor and mutations in PXR1 define complementation group 2 of the peroxisome biogenesis disorders. Slawecki, M.L., Dodt, G., steinberg, S., Moser, A.B., Moser, H.W., and Gould, S.J. (1995) Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders. Yahraus, T., Braverman, N., Dodt, G., Kalish, J.E., Morrel, J.C., Moser, H.W., Valle, D., and Gould, S.J. (1995) The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

Airenne T, Haakana H, Sainio K, Kallunki T, Kallunki P, Sariola H, Tryggvason K. Structure of the human laminin g2 chain gene (LAMC2): Alternative splicing with different tissue distribution of two transcripts. Akinola LA, Poutanen M, Vihko R. Cloning of rat 17b-hydroxysteroid dehydrogenase type 2, and characterization of tissue distribution and catalytic activity of rat type 1 and type 2 enzymes. Elo JP, Akinola LA, Poutanen M, Vihko P, Kyllönen AP, Lukkarinen O, Vihko R. Characterization of 17b-hydroxysteroid dehydrogenase isoenzyme expression in benign and malignant human prostate. Heiskari N, Zhang X, Leinonen A, Barker D, Gregory M, Atkin G, Netzer K-O, Weber M, Reeders S, Grönhagen-Riska C, Neumann HPH, Trembath R, Tryggvason K. Identification of 17 mutations in ten exons in the COL4 A5 collagen gene, but no mutations found in four exons in COL4 A6: A study of 250 patients with Alport syndrome. Nokelainen P, Puranen T, Peltoketo H, Orava M, Vihko P, Vihko R. Molecular cloning of mouse 17§-hydroxysteroid dehydrogenase type 1 and characterization of enzyme activity. Peltoketo H, Isomaa V, Poutanen M, Vihko R. Expression and regulation of 17b-hydroxysteroid dehydrogenase type 1.

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I see that disease specific web pages are beginning to appear. For example, a lysosomal storage disease site could have links to the Gaucher and Glycogen Storage Disease pages as well as other resources and information. For example, a lysosomal storage disease site could have links to the Gaucher and Glycogen Storage Disease pages as well as other resources and information. The concept that the tiny cells that make up the body have their own organelles, and that this is the root of their child's condition is a concept that can be hard to grasp. With respect to the discussion about the structure of web pages, making them both useful to the physician, biochemist and patient families: Paediatric Oncology (cancer) Web Pages are an obvious parallel to inborn errors in that there is a massive amount of information about childhood cancer both very technically based and more "support" based information. I think that this is a good way to go rather than having completely separate trees of pages, as many patients/families would be interested to at least look at the physician information, without having to start again from the homepage.

This directory, like its predecessors, is designed to provide information about laboratories in the United Kingdom specialising in the diagnosis of inherited metabolic disease. This will enable the user to consult the second section by indicating the appropriate table of laboratories able to give assistance in the diagnosis of any disorder by the assay of any specific enzyme or metabolite. Further information about each laboratory, including contact personnel, telephone and fax number is given in a third section arranged in alphabetical order of the city/town in which the laboratory is based. No one laboratory provides a full and comprehensive service and some laboratories are so specialised as to be the only provider of some diagnostic assays. Previous editions included information about diagnoses made by each laboratory but we decided not to include this because of problems of confidentiality, duplication of information where more than one laboratory was invloved and the potential inclusion of non-UK data. The links provided take you directly to the relevant disease page, but you can find further information about OMIM at http://www3.ncbi.nlm.nih.gov:80/Omim/ If you have any additions or corrections to be made to the McKusick number cross-references, please e-mail T.P.Bursby@ncl.ac.uk

Source: J Clin Invest 1988 Jun;81(6):1710-5 Abstract: We have used complementation analysis after somatic cell fusion to investigate the genetic relationships among various genetic diseases in humans in which there is a simultaneous impairment of several peroxisomal functions. Group 1 is represented by a cell line from a patient with the rhizomelic form of chondrodysplasia punctata. Group 2 consists of cell lines from four patients with the Zellweger syndrome, a patient with the infantile form of Refsum disease and a patient with hyperpipecolic acidemia. Group 3 comprises one cel line from a patient with the Zellweger syndrome, group 4 one cell line from a patient with the neonatal form of adrenoleukodystrophy, and group 5 one cell line from a patient with the Zellweger syndrome. We conclude that at least five genes are required for the assembly of a functional peroxisome Major Indexes: Acyltransferases [deficiency] Metabolism, Inborn Errors [genetics] Microbodies [enzymology] Minor Indexes: Acyltransferases [analysis] Adrenoleukodystrophy [genetics] Catalase [analysis] Cell Fusion Cell Line Centrifugation, Density Gradient Chondrodysplasia Punctata [genetics] Digitonin Fibroblasts Genetic Complementation Test Refsum's Disease [genetics] Syndrome Reagent Names: EC 1.11.1.6 (Catalase) EC 2.3. (Acyltransferases) EC 2.3.1.42 (dihydroxyacetone-phosphate acyltransferase) 11024-24-1 (Digitonin) Language: English

In addition to the goal of bringing clinical excellence to patients entrusted to the care of its physicians, the Department of Pediatrics continues to enhance the quality of the research being conducted. Currently, the department is divided into 12 divisions: Adolescent Medicine, Cardiology, Critical Care, Emergency Pediatrics, Endocrinology, Gastroenterology/Nutrition, General Pediatrics, Genetics and Child Development, Hematology/ Oncology, Infectious Diseases, Neonatology and Nephrology. We apply the best known treatment and therapies to serve the children of the community, but it is research that will enable us to make significant contributions to the promotion of health care and the prevention and treatment of disease. Targeted research interests include immune modulation with cytokines, escape from immune responses in bacterial infections and for HIV infection, has centered on perinatal transmission, early diagnosis and early treatment in infants and clinical trials. William L. Ries, DDS, Ph.D. (DDS, State University of New York - Buffalo, 1969; Ph.D., State University of New York - Buffalo, 1978): Research involves the study of the physiology and biochemistry of bone resorption and the interaction of the immune system with cells of bone. Nancy Wright, M.D. (Bowman Gray, 1985): Current research interests include growth and growth hormone in the normal physiology of pubertal bone growth, and in the pathophysiology of sickle cell disease and HIV infection.

89, 580-584 [Medline] Palosaari, P.M. and Hiltunen, J.K. (1990) Peroxisomal bifunctional protein from rat liver is a trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3,2-enoyl-CoA isomerase activities. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. 267, 1034-1041 [Medline] Jiang, L.L., Kobayashi, A., Matsuura, H., Fukushima, H., and Hashimoto, T. (1996) Purification and properties of human D-3- hydroxyacyl-CoA dehydratase: Medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. 120, 624-632 Jiang, L.L., Miyazawa, S., and Hashimoto, T. (1996) Purification and properties of rat D-3-hydroxyacyl-CoA dehydratase: D-3-Hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. 119, 775-782 Markwell, M.A.K., Haas, S.M., Bieber, L.L., and Tolbert, N.E. (1978) A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples. Nature 227, 680-685 [Medline] Towbin, H., Staehelin, T., and Gordon, J. (1979) Electrophoretic transfer of protein from acrylamide gels to nitrocellulose sheets: procedure and some applications.

Laboratory research focusses on basic biochemistry relating to cell membrane lipid and protein metabolism, biochemical communications within cells, the biochemical basis of inherited metabolic disease, and developmental neurobiology and nutrition. Our goal is to determine the exact location of the gene, as well as the identity and function of its protein product and to develop both a test and possible cure for this devastating disorder (Greer, Riddell, Ludman, Neumann,Welch, Byers). Considerable progress has been made to show that a drug can make cultured human brain tumour cells exhibit characteristic features of NPD, thus providing a neural cell model of the disease. PKC is turned on by chemical products of phospholipid degradation in cell membranes and, in turn, affects metabolism of these lipids. Proteins (such as MARCKS) are regulated by PKC and appear to alter the shape or properties of the plasma membrane in response to specific signals. We are interested in how expression of these proteins is controlled during brain development and injury, and how the proteins work at the molecular level to coordinate signalling pathways involving PKC and calcium.

Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, South Australia 5006; and ý Faculty of Science and Technology, Griffith University, Nathan, Queensland 4111, Australia Abstract Pristanic acid oxidation measurements proved a reliable tool for assessing complementation in fused heterokaryons from patients with peroxisomal biogenesis defects. The Hatter Institute for Cardiovascular Studies, Department of Academic and Clinical Cardiology, University College London Hospital, London WC1E 6DB; and ýDepartment of Molecular Pathology, University College London Medical School, London, United Kingdom Abstract Heat shock protein (hsp) induction by stressful stimuli such as heat and ischemia is known to protect cardiac cells from severe stress. Molecular Disease Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892-1666;ýBowman Gray School of Medicine, Winston-Salem, North Carolina 27103; and §University of North Carolina, Chapel Hill, North Carolina 37599 Abstract Hepatic lipase (HL) is an endothelial-bound lipolytic enzyme which functions as a phospholipase as well as a triacylglycerol hydrolase and is necessary for the metabolism of IDL and HDL. To evaluate the feasibility of replacing an enzyme whose in vivo physiologic function depends on its localization on the vascular endothelium, we have infused recombinant replication-deficient adenovirus vectors expressing either human HL (HL-rAdV; n = 7) or luciferase cDNA (Lucif-rAdV;n = 4) into HL-deficient mice with pretreatment plasma cholesterol, phospholipid, and HDL cholesterol values of 176±9, 314±12, and 129±9, respectively. Department of Immunology, Nippon Medical School, Tokyo 113 Japan Abstract Using flow cytometry and immunoprecipitation (IP), we have investigated the deleted in colon cancer (DCC) protein expression on the bone marrow (BM) and peripheral blood (PB) cells of 16 normal subjects, 17 myelodysplastic syndrome (MDS) patients, and 10 acute myelogenous leukemia (AML) patients. The IP results indicated that the AF5 antibody did not detect the DCC protein on BM-MNCs of three of five MDS patients and four of five AML patients; however, the G97-449 antibody detected 180 kD DCC protein in two MDS patients in whom AF5 had detected greatly reduced DCC band. , Cambridge, Massachusetts 02142; ýBiomedical Research Center and Biochemistry and Molecular Biology Department, University of British Columbia, Vancouver, British Columbia, Canada; and §Center for Blood Research, Harvard Medical School, Boston, Massachusetts Abstract The CC chemokine eotaxin, identified in guinea pigs and also recently in mice, may be a key element for the selective recruitment of eosinophils to certain inflamed tissues.

Source: Pichia pastoris Synonyms:Length: 1157 aa residuesDatabase entries: emn:pppas1g Z36987 PID:g537420pironly:A55152 A55152sw:PAS1_PICPA P46463Functions/properties: Mutants have peroxisome "ghosts" which still can import peroxisomal proteinsAccumulation of small peroxisomal vesiclesPeroxisome formation probably needs the action of PAS1 and PAS5 in sequence (pas1/pas5 double mutant accumulates small vesicles)References: Heyman JA, Monosov E, Subramani S; J. Cell Biol. 127, 1259-1273 (1994) Medline: 95050987To the AAA tree [To our home page][Description of the AAA superfamily][Search the AAA database][What is PID:? Last edited: June 19, 1997 by KaiFr

Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Gaucher's Disease Gaucher Disease Home Page [W. Rosenfield] - (US) Gauchers Association Contents Page - (UK) Gaucher Disease: Current Issues in Diagnosis and Treatment - NLM Tech Ass Workshop Reports (US) Review Gaucher Disease [Neuroweb Forum] - MGH (US) Gaucher Treatment Program at MGH - Harvard (US) Leukodystrophy (not a MeSH term! ) United Leukodystrophy Foundation - Illinois (US) Hypoglycemia A Collection of Hypoglycemia Links & Some Information Hypoglycaemia - (AU) Reactive Hypoglycemia Home Page About Hypoglycemia - NIDDK (US) The Sugar Paradox - NutriMed (US) Hyperlipidemia Hyperlipidemia - Am Heart Assoc. Glucosephosphate Dehydrogenase Deficiency An Introduction to G6PD Deficiency Carbohydrate-Deficient Glycoprotein Syndrome The CDG Syndrome - What is it? ) A Case of Glutaric Acidemia [H Morton] - (US) Diabetes Insipidus The Diabetes Insipidus & Related Disorders Network - (US) About Diabetes Insipidus - The Merck Manual Fatty Acid Oxidation Disorder (not a MeSH term! Porphyria - MCS-Allergy About Porphyria - Am.

Abbreviations used: DTT, dithiothreitol; HL, hydroxymethylglutaryl-CoA lyase; HMG-CoA, 3-hydroxy-3-methylglutaryl-CoA; mHL, mature HL; pHL, HL precursor. We previously showed that human liver hydroxymethylglutaryl-CoA (HMG-CoA) lyase (HL; EC 4.1.3.4) is found in both mitochondria and peroxisomes. To test this hypothesis, we expressed both the precursor (pHL) and mature (mHL) peptides in Escherichia coli and studied their properties. pHL purified by ion-exchange and hydrophobic chromatography had a pI of 7.6 on FPLC chromatofocusing and a molecular mass of 34.5 kDa on SDS/PAGE, similar to our findings for peroxisomal HL. Purified pHL is similar to mHL in Km for HMG-CoA (44.8 M), kcat (6.3 min-1) and pH optimum (9.0–9.5). On Superose 12 FPLC gel filtration and also on ultrafiltration, both in the presence and in the absence of HMG-CoA, pHL behaves as a monomer whereas mHL migrates as a dimer.

We (John and Mary) are the parents of a wonderful little boy who is diagnosed with Infantile Refsum's Disease (IRD). The purpose of this page is to be a source of support and information for parents and caregivers of children with IRD. Children diagnosed with IRD have certain things in common such as, but not limited to, dysmorphic features, hearing loss, vision impairment, and high levels of phytanic and very-long-chain fatty acids. If you are a parent just getting a diagnosis, we know how overwhelming it all seems, Ian was a year old when we first got his diagnosis. The search for information that followed the diagnosis ultimately led us to the internet. A word about staying sane during this stage, remember that the scientific articles are not talking about your child, they're talking about your child's disease, your child is still the same child he/she was before the diagnosis, regardless of what label or symptom is assigned to them.

Bam H1 digested DNA showed two bands of hybridisation of sizes 13.4 and 6.1 Kb, while Eco R1 digested DNA showed two major bands of hybridisation of 6.9 and 1.5 Kb and a minor band of 2.9 Kb, and Hind III digestion gave two major bands of 1.5 and 0.5 Kb and a minor band of 3.7 Kb. The deduced amino acid sequence of the tomato glycolate oxidase has the tri-amino acid carboxy-terminus sequence -PRL, as do the sequences of glycolate oxidase from both pumpkin and lentil while that from spinach has the sequence -ARL. Characteristics of the glycolate oxidase cDNA from tomato Organism: Tomato (Lycopersicon esculentum Mill) breeding line de Ruiter 83G38. Library construction: Poly(A) RNA was isolated from young, fully expanded leaf, which was stressed by harvesting and leaving to dessicate for one hour, on the bench, in indirect sunlight. Selection of clone: The glycolate oxidase cDNA was selected by hybridisation with a cDNA encoding a soybean pyrroline-5-carboxylate enzyme (Delauney and Verma, 1990). Ann Rev Cell Biol 1: 489-530 Ludt C, Kindl H (1990) Characterization of a cDNA encoding Lens culinaris glycolate oxidase and developmental expression of glycolate oxidase mRNA in cotyledons and leaves. Plant Cell Physiol 34: 51-57 Volokita M, Somerville CR (1987) The primary structure of spinach glycolate oxidase deduced from the DNA sequence of a cDNA clone.

We (John and Mary) are the parents of a wonderful little boy who is diagnosed with Infantile Refsum's Disease (IRD). The purpose of this page is to be a source of support and information for parents and caregivers of children with IRD. Children diagnosed with IRD have certain things in common such as, but not limited to, dysmorphic features, hearing loss, vision impairment, and high levels of phytanic and very-long-chain fatty acids. If you are a parent just getting a diagnosis, we know how overwhelming it all seems, Ian was a year old when we first got his diagnosis. The search for information that followed the diagnosis ultimately led us to the internet. A word about staying sane during this stage, remember that the scientific articles are not talking about your child, they're talking about your child's disease, your child is still the same child he/she was before the diagnosis, regardless of what label or symptom is assigned to them.

Osumi, T. and Hashimoto, T. (1980) Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liver. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. 88, 1059-1070 Koike, M. and Hamada, M. (1971) Preparation of calcium phosphate gel deposited on cellulose in Methods in Enzymology (Jakoby, W.B., ed. Nature 227, 680-685 Towbin, H., Staehelin, T., and Gordon, J. (1979) Electrophoretic transfer of protein from acrylamide gels to nitrocellulose sheets: Procedure and some applications. 103, 589-596 Wakil, S.J., Green, D.E., Mii, S., and Mahler, H.R. (1954) Studies on the fatty acid oxidizing system of animal tissues. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase.

] Click on selected entry to go to relevant MeSH page [ A | Lacrimal Duct Obstruction Lactation Disorders Lactose Intolerance Landau-Kleffner Syndrome Larsen Syndrome (not a MeSH term) Larva Migrans Laryngeal Neoplasms Laryngomalacia Laurence-Moon-Biedl Syndrome Legg-Perthes Disease Legionellosis Leigh Disease Leiomyoma Leiomyosarcoma Leishmaniasis Lennox-Gastaut Syndrome ( --> Epilepsy) Leprosy Leptospirosis Leukemia Leukodystrophy (not a MeSH term) Lissencephaly Listeria Infections Liver Cirrhosis Liver Diseases Loiasis Long QT Syndrome Lou Gehrig's Disease ( --> Amyotrophic Lateral Sclerosis ) Ludwig's Angina Lupus Erythematosus, Systemic Lupus (Vulgaris) Lyme Disease Lymphangioma Lymphangiomyomatosis Lymphedema Lymphoma, Non-Hodgkin's Lymphoma

Purification of peroxisomes and subcellular distribution of enzyme activities for activation and oxidation of very long chain fatty acids in rat brain. Effect of hypoxia-reoxygenation on peroxisomal functions in cultured human skin human skin fibroblasts from control and Zellweger syndrome patients. A late onset generalized disorder of peroxisomes. Decreased tumor incidence and increased survival by one year oral low dose arginine supplementation in the mouse

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Protein Structures Topics Structure elements and structure levels: what factors limit the structures, what forces stabilize the structures Motifs (super-secondary structures) and domains DNA-bindinbg proteins Evolution of protein structures Prediction of protein structures Methods for determining protein strucutres  Representative litterature Text book (any good biochemistry text book) Introduction to Protein Structure: Bränden & Tooze (book) Dynamics of Proteins and Nucleic Acids: McCammon & Harvey (book) Protein-Nucleic Acid Interactions: Saenger & Heinemann (book)   Computer Resources The Alpha Helix - tutorial on the alpha helix structure The Beta Sheet - tutorial on beta structures Introduction to Protein Structures- Kinemage & gif illustrations to the book "Introduction to Protein Structure" by Branden & Tooze Characterization of Chymotrypsin - tutorial on chymotrypsin structure & catalysis (Special assignment for KE1350) Myoglobin - tutorial on the myoglobin stucture Hemoglobin - tutorial on the R to T transitions in hemoglobin Protein G - tutorial on the structure of Protein G Amino Acid Identificaiton - tutorial on amino acid structures (Special assignment for KE1350) The Peptide Bond - tutorial on the peptide bond Molten globule model Proline isomerization and formation of disulfide bridges Folding: folding in vivo, environmental factors, protein factors, folding of cytochrome c, ribonuclease, barnase, ubiquitin, DFHR Assembly: multi-subunit struktures, forces, chaperones Heat-shock-proteins as molecular chaperones Chaperones in intra-cellular protein transport Protein folding and biotechnology: inclusion bodies, yield, purity, quality, costs  Representative litterature Text book (any good biochemistry text book) Introduction to Protein Structure: Bränden & Tooze (book) Mechanisms of Protein Folding: Pain (book) Protein Folding: Creighton (book) Current Opinion of Structrual Biology, 1994: vol 4, p 67- (journal article) European Journal of Biochemistry, 1994: vol 219, p 11- (journal article) Protein trafficking Topics General aspects of inra-cellular protein traffick: signals, chaperones, folding, energy requirements, receptors, processing, assembly Sorting: signals, chaperones, receptors, lipids, cytoskeletton, importance of posttranslational modifications Vesicular protein transport: RER, SRP, docking, SSR, signal peptidases, BIP, glykosylation, budding, fussions, cis- and trans-Gogli, G-proteins, SNAPs, NSF, SNAREs Secretion, clatrin-coated secretory vesicles, exo- and endocytosis, sorting to apical and baso-lateral plasmamembranes in epithelial cells, bakterial secretion Lysosomal and vacuol protein transport: Mann6P-receptor, recycling Mitochondrial and chloroplastidal protein import: pre-sequenses, amphiphilic elements, cytosolic faktors: PBFs, hsp70, GrpE, isoprenylation of chaperones, sortering, unfolding, receptors, GIP, intra-organell sortering, energy requirements, organellar chaperones: mhsp70, mhsp60, hsp10, DnaJ, processing: one-step- and two-step processing, assembly, membrane insertion Peroxisomal protein transport: signals, SKL-sequense Nuclear protein import: lamina, chromatin, nuclear envelope, mitosis, re-assembly, nuclear pores, bi-directional transport: protein import, RNA export, signals, nuclear membrane proteins Organellar genomes: structures, coding capacity, codon usage, splicing, trans-splicing, RNA editing, CMS Protein trafficking in prokaryotes  Representative litterature Text book (any good biochemistry text book) Molecuar Biology of the Cell: Alberts et al. Protein turnover Topics Why proteolysis Proteolytic enzymes Constitutive turnover of cellular proteins and organelles vs turnover of regulatory proteins Proteolysis in specialized organelles Fucntion of the proteosome in protein turnover Tagging proteins for rapid turnover: ubiquitin, PEST sequences Protein turnover in prokaryotes Proteolysis of damaged proteines  Representative litterature Text book (any good biochemistry text book) Nature, 1992: vol 357, p 375- (journal article) Seminars in Cellbiology, 1990: vol. Enzymes; kinetiks and catalytic mechanisms Topics Reaktion mechanisms for different enzymes Binding energy and catalysis Cofactors and catalysis Redox enzymesTwo substrate kinetics, ping-pong mechanisms, pH-dependance Enzyme kinetics as a tool to analyze katalytic mechanisms  Representative litterature Text book (any good biochemistry text book) Enzyme Structure and mechanism: Fersht (book) Understanding enzymes: Palmer (book) Mechanisms of Cooperativity and Allosteric Regulation in proteins: Perutz (book) Science 1988: vol 242, p 533- ENZYMER, C-kurs-litteratur: Carlberg (samlade kopior)   Computer Resources Characterization of Chymotrypsin - tutorial on chymotrypsin structure & catalysis (Special assignment for KE1350) Transport over membranes Topics Different types of transport: definitions, characteristics, relevance, examples Ionophores and uncouplers: direct and indirect ionophores and uncouplers, definition, mode of action, examples in studies of transport and och coupling mechanisms Coupled transporters: uniports, symports, antiports, elektrogenic and elektroneutral transporters Transport and p (pmf), models and hypotheses for H+ translokcation, Na+ as bioenergetic coupling ion Membrane organization of transporters Primary and secondary active transporters: struktur/function analyses, mode of action Model systems for studies on kinetics and mechanisms for transport Retinal enzymes  Representative litterature Text book (any good biochemistry text book) Bioenergetics: Nicholls & Ferguson (book) Energy Transduction in Biological Membranes: Cramer & Knaff (book)

This report is from the Yeast Protein Database maintained by James I. Garrels at Proteome Inc. YPD is updated daily and can be SEARCHed by gene name, keywords, and protein properties. -- null mutant fails to import proteins with C-terminal SKL motif | -- receptor may be mobile for peroxisomal protein import (see 27042) | -- null mutant has proper import of PTS2 proteins while pas7 null | mutant has proper import of PTS2 proteins (26081) |

Methods for the preparation of peripheral blood leucocytes for lysosomal enzyme assayThere are 2 methods available for preparation of leucocytes from whole blood - either method is acceptable and merely depends on the availability of expertise, resources and equipment. Approximately 10 mL (8-12 mL) whole, fresh, EDTA blood required for either method. The cells are washed briefly in 0.2% saline to haemolyse the red cells, and then brought back to isotonicity with 1.8% saline. Divide 8-12 mL whole EDTA blood (collected without the use of plastic mixing beads) into two equal volumes in a pair of 10 mL plastic centrifuge tubes; centrifuge both at 3,000 rpm (1550 x g) for 5 min at 10 degrees Celsius2. Restore original blood volume with 0.9% saline and transfer the blood suspension into a 50 mL conical centrifuge tube. TELOGEN (resting phase) ANAGEN (Growing phase)(Sheath arrowed)ANAGEN: Hair roots in this phase are metabolically active and have a full enzyme complement; they are more pigmented than those in Telogen and often have sheaths attached.

This chart was created by Evgeni Selkov (evgeni@mcs.anl.gov). Select an EC number to obtain further information. Metabolic Pathway Graphics created by Evgeni Selkov (evgeni@mcs.anl.gov) as part of the Enzyme and Metabolic Pathways Database Project.

Purification of peroxisomes and subcellular distribution of enzyme activities for activation and oxidation of very long chain fatty acids in rat brain. Acta 1170(1993), 44-52 Kremser, K., Kremser-Jezik, M., Singh,I. Effect of hypoxia-reoxygenation on peroxisomal functions in cultured human skin human skin fibroblasts from control and Zellweger syndrome patients. 22(1995), 39-46 Burdette, D.E., Kremser, K., Fink, J.K., Pahan, K., Singh, I. A late onset generalized disorder of peroxisomes. Lubec, G., Hoeger, H., Kremser, K., Amann, G., Koller, D.Y., and Gialamas, J. Decreased tumor incidence and increased survival by one year oral low dose arginine supplementation in the mouse Life Sciences 58(1996), 2317-25 Singh, I., Kremser, K., Ghosh, B., Singh, AK.

Title: Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes. Source: Prog Clin Biol Res 1990;321:545-58 Abstract: The peroxisomal diseases can be divided into three categories: 1) diseases in which morphologically distinguishable peroxisomes are virtually absent (Zellweger syndrome; infantile Refsum disease; Hyperpipecolic Acidaemia; neonatal Adrenoleukodystrophy); 2) diseases in which peroxisomes are present but several peroxisomal functions are impaired (rhizomelic Chondrodysplasia punctata; Zellweger-like syndrome? ); and 3) diseases in which a single peroxisomal function is impaired. We have used complementation analysis after somatic cell fusion in order to investigate the genetic relationship between diseases in category 1. The activity of acyl-CoA: dihydroxyacetonephosphate acyltransferase, which is deficient in these diseases and in rhizomelic Chondrodysplasia punctata, was used as an index of complementation. Thus the components required for peroxisome assembly must be present in a stable form in the parental cell lines, at least one of which must contain peroxisomal ghost-like structures Major Indexes: Metabolism, Inborn Errors [genetics] Microbodies [pathology] Zellweger Syndrome [genetics] Minor Indexes: Alleles Cell Line Fibroblasts Fluorescent Antibody Technique Genetic Complementation Test Microbodies [metabolism] Phenotype Zellweger Syndrome [complications] [pathology] Language: English

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Mississauga, Ontario, Canada LSK IB4 ABSTRACT The hepatic tumorigenicity of Cl-924 (5,51-(1,11-biphenyl)-2,5-diylbis(oxy) (2.2-dimethylpentanoic acid)), a hypolipidemic agent, was evaluated in 50 B6C3FI mice/sex/dose given drug in the diet at 0, 5, 25, and 75 mg/kg/day for 2 yr. Cl-924 elicited dose-dependent increases in the incidence of hepatocellular adenomas and carcinomas in both sexes that were statistically significant at 75 mg/kg. 1-1, Tsukiji 5-chome, Chuo-ku, Tokyo 104, Japan ABSTRACT Fischer-344 rats of both sexes were administered the heterocyclic amine 2-amino-1-methyl-6-phenylimidazo[4,5-B]pyridine (PhLP) for 52 wk at the dietary level of 400 ppm. Light microscopic and ultrastructural investigation of the myocardium revealed prominent changes in all PhLP-treated male and female animals investigated. The primary objective of the present study was to characterise the spatial and temporal changes in neurons, astrocytes, and microglia after dizocilpine maleate (MK-801)-induced focal neuronal necrosis in the posterior cingulate/retrosplenial (PC/RS) cortex of the rat. Beginning on day 3, GFAP immunohistochemistry revealed hypertrophic astrocytes in a diffuse pattern throughout the region of cell body necrosis, a change that persisted throughout the study, However, GSA lectin histochemistry identified a few reactive microglia on day 1 in a multifocal pattern throughout the region of cell body necrosis. The diets that were fed consisted of (1) AlN-76a diet without dietary finer; (2) standard AlN-76a diet, which contained 5% cellulose; (3) AlN-76a diet with 5% guar gum; (4) a "Western" human diet with 20% fat and 10% cellulose; (5) AlN-76a diet formulated to mimic Diet 4 in fat content but with 2.5% cellulose; and (6) Purina Rodent Chow.

Dehyderoepiandrosterone (no wonder they call it DHEA) is the most abundant hormone in the bloodstream. ANIMAL STUDIES Abstract: Although antiobesity effect of dehydroepiandrosterone (DHEA) has been reported in rats, it remains unclear whether the effect is brought about by itself or mediated by sex steroids converted form DHEA in gonads. Dietary DHEA leads to: (1) decrease in body weight gain; (2) relative increases in liver weight; (3) liver color change; (4) induction of hepatic peroxisomal enzymes; (5) proliferation of hepatic peroxisomes with increased cross-sectional area; (6) decreased hepatic mitochondrial cross-sectional area; (7) elevated levels of hepatic cytosolic malic enzyme; (8) slight decreases, significant decreases, or significant increases in serum triglyceride levels, depending on mouse strain; (9) increases in total serum cholesterol levels; (10) significant decreases in the hepatic rates of fatty acid synthesis; (11) significant increases in the hepatic rates of cholesterol synthesis; (12) decreases in both protein content and specific activity of hepatic mitochondrial carbamoyl phosphate synthetase-I without concomitant changes in serum urea nitrogen; (13) induction of glutathione S-transferase activity in liver; (14) decrease in hepatic endogenous protein phosphorylation; (15) increase in hepatic AMPase and GTPase activities; (16) formation of 5-androstene-3 beta, 17 beta-diol as a major metabolite of DHEA by subcellular fractions of liver, which is reflected in serum and tissue levels; and (17) reduction in serum prolactin levels. Abstract: Aging in humans is accompanied by a progressive decline in the secretion of the adrenal androgens dehydroepiandrosterone (DHEA) and DHEA sulfate (DS), paralleling that of the GH-insulin-like growth factor-I (GH-IGF-I) axis. To test the hypothesis that the decline in DHEA may contribute to the shift form anabolism to catabolism associated with aging, we studied the effect of a replacement dose of DHEA in 13 men and 17 women, 40 to 70 years of age. RESULTS: DHEA sulfate, DHEA, T, and free T increased up to two times premenopausal levels with treatment.

As of November 14, 1996, 21% (15/70) of positionally cloned genes mutated in human disease states match an S. cerevisiae gene in GenBank at least as significantly as the human NF1 yeast IRA2 pair (P = 3.1e-40). BLASTX searches were performed using each positionally cloned human cDNA listed against a non-redundant database of S. cerevisiae sequences (NRSC, 27 Apr 96) maintained by the Saccharomyces Genome Database project (http://genome-www.stanford.edu/). The BLASTX (v1.4) P-value for the most statistically significant yeast protein match for each query is given, along with the GenBank accession number for the corresponding S. cerevisiae nucleotide sequence (ordered by increasing P-value). Matches with very low statistical significance (those with BLASTX P-values greater than 1.0e-5) are not shown. In those cases where a GenBank entry for the complete cDNA sequence for a positionally cloned gene does not exist, the GenBank accession number for the longest available partial sequence is listed. Further information for each human disease is available through the Online Mendelian Inheritance in Man (OMIM) database (http://www3.ncbi.nlm.nih.gov/Omim) using the MIM numbers provided.

Gordon A. Hamilton CoreBiological InterdisciplinaryBioorganic Web Page Not Available Professor of ChemistryB.A. Queen's University at Kingston, 1956M.A. Harvard University, 1957 Ph.D. Harvard University, 1959 Chemical mechanisms of enzymic and non-enzymic oxidation-reduction reactions; metabolic function of peroxisomal oxidases; chemistry of oxalyl thiolesters and their role in animal metabolism; chemical mechanism of action of hormones, especially insulin and growth factors. Since S-oxalins (the direct product of the hydroxy acid oxidase reaction) appear especially important physiologically, much of current research is directed toward characterizing their chemistry and biochemistry. Thus, it has been found that S-oxalins are cell proliferation inhibitors; their concentrations always decrease when cells are stimulated to proliferate, and added S-oxalins prevent cells from proliferating even when aggressively stimulated. Since the physiological effect of S-oxalins is so dependent on their concentration, it is important to understand fully the factors that control these levels. To a chemist, that result emphasizes one of the fascinating aspects about this research, namely that many of the reactions involving S-oxalins that are occurring in vivo are proceeding without the necessity for enzyme catalysis. In addition to defining mechanisms by which S-oxalins are made and degraded, future research will be aimed at developing a better assay (an immunoassay) for S-oxalins, defining in more detail how they function in controlling cell proliferation and programmed cell death, characterizing more fully what factors or cell stimulants affect their levels in cells, and determining more exactly the mechanisms that are used by such factors in altering levels of S-oxalins.

YPD is updated daily and can be SEARCHed by gene name, keywords, and protein properties. -- mutant fails to import 3-ketoacyl-CoA thiolase, but can import | -- general import receptor for proteins with peroxisomal targeting | -- null mutant has proper import of PTS1 proteins while pas10 null | mutant has proper import of PTS2 proteins (26081) | Rachubinski, R. A., and Subramani, S. How proteins penetrate |

describes common seizure phenomenology only cannot reliably distinguish partial from generalized origin of seizures is a crude guide to selection of drug treatment Biology will provide the ultimate answers (try t his site for a peek) will tell us why the patient has seizures will explain the basis for the patient's symptoms what molecular targets can be modulated to reduce or abolish seizures which structures to ablate or stimulate or which connections to interrupt to abolish of lessen symptoms what strategies will be effective in preventing epilepsy Epilepsy syndromes a composite of age of onset, seizure symptoms, neurologic findings, EEG, structural and functional neuroimaging allows us a 'best guess' approach to selecting treatment and counseling the patient counsel involves prognosis as well as genetic risk assessment imperfect classification which needs to be updated periodically Epilepsy is produced as a result of interaction between genetic factors mitochondrial, single gene, multiple genes environmental factors infections, trauma, toxins, drugs intrinsic disease brain malformation, stroke, tumor The genotype-phenotype problem an identical mutation may produce different epileptic symptoms within a species different mutations can produce identical epileptic symptoms within a species abnormal mechanisms may cause epilepsy in one species but not another A paradigm for classifying epilepsy partial vs. Benign myoclonic epilepsy in infants rare onset : in infancy ; up to age 3 years normal clinical exam and development myoclonic jerks involve the upper extremities and head attacks occur in day and during light sleep; disappear in deep sleep EEG is always abnormal; shows 3 Hz spike and wave complexes during jerks neuroimaging is normal may be the earliest manifestation of JME benign outcome presently expected Juvenile myoclonic epilepsy most common primary / idiopathic generalized epilepsy onset between 8-30 years (mean 14 years) myoclonic, absence and generalized tonic clonic seizures seizures occur on awakening sleep deprivation, alcohol or menstrual periods may be precipitants Ictal EEG shows polyspikes followed by slow, irregular spike and wave complexes photosensitivity is common excellent response to valproate ± clonazepam more info Childhood absence epilepsy uncommon 2- 5% frequent absence seizures with abrupt onset and termination generalized tonic clonic seizures are infrequent (<10%) onset 3-12 years; peak 6-7 years, female preponderance neurologically normal subject 3Hz Spike and wave complexes is the typical EEG abnormality some develop GTC in adolescence or early adulthood Juvenile absence epilepsy absences tend to occur in clusters age of onset 8-18 years , peak 13 years more likely to present with GTCS more likely to have myoclonic seizures uncertain whether this is a distinct entity from CAE more info Epilepsy with generalized tonic clonic seizures in childhood nosological position unclear; not part of ILAE classification about 1.5% of childhood epilepsy (Spanish cohort of 5000) rare GTCS, typical total seizure count is 5 good chance of remission usually normal intellect (95% or greater) onset occurs in association with febrile seizures Lennox Gastaut syndrome this label is often used loosely for intractable epilepsy in childhood key components are : specific seizure types which are difficult to control, specific interictal and ictal EEG abnormalities and diffuse cognitive dysfunction tonic and atypical absence seizures are the most frequent seizure types atonic seizures are rare but the label is abused for seizures where falls occur clinical seizures begin at about the age of 2 years typical EEG pattern may not be seen till 3 or 4 years of age slow spike and wave complexes or multifocal independent sharp waves mental retardation may evolve with time, not all patients are mentally retarded rigourous classification of this syndrome is difficult The Lennox-Gastaut Syndrome (external link to Pedbase) Benign focal epilepsy with occipital paroxysms aka Benign Occipital Epilepsy occurs in the first decade of life neurologically normal simple visual hallucinations, blindness automatisms similar to psychomotor seizures focal motor seizures postictal headache in 25% EEG: bi-occipital paroxysms in trains EEG abnormalities disappear with eye opening good prognosis, disappears by adolescence 60% have seizures controlled by medications Benign focal epilepsy with centrotemporal spikes aka Benign Rolandic Epilepsy about 15-20 % of childhood epilepsy onset 1-7 years peak 3- 5 years , seizures stop around 15 years nocturnal onset of seizures sensation of parasthesia in the lips gums and inner cheeks focal motor seizures: face, face + hand, rarely lower extremity salivation, speech arrest generalized tonic clonic seizures good response to treatment (which is often not required) Characteristics of Frontal Lobe Seizures stereotyped clusters of seizures short duration (<30 seconds) sudden onset and termination rapid recovery of consciousness prominent (and possibly violent) motor automatisms increased risk for complex partial status epilepticus frontal lobe epilepsies are usually sporadic (non familial) but a rare inherited form called Famili al nocturnal frontal lobe epilepsy has been recently described and has exciting genetic and mechanistic implications. view EEG of a seizure Clinical Characteristics of Mesial temporal lobe epilepsy strong association with febrile seizures, particularly complex febrile seizures onset in childhood, 6-10 years two thirds have complex partial seizures from the onset a third have generalized seizures as presenting seizures there may be an interval between first afebrile seizure and recurrent seizures initial seizures may be bland in comparison to later seizures uncertain if frequency of seizures increases with age auras are very common (>80% have) commonest aura is an abdominal aura (60%) dejavu and psychic aura are less common (40%) onset in childhood predominantly nocturnal seizures, focal or generalized EEG shows generalized epileptiform activity for at least 85% of recording made during slow wave sleep EEG during wakefulness may show a combination of focal and generalized spikes intellectual deterioration frequently occurs treatment regimes are variable and similar to those used in LKS seizures disappear by age 20 Landau Kleffner syndrome onset occurs at the time of language acquisition major symptom is failure of speech development seizures occur in 75% but are infrequent and get less with time generalized seizures multifocal EEG spikes etiology unknown at present no imaging abnormalities seizures are generally controllable and abate with time but the outcome for speech is less good treatment with steroids and anticonvulsants is presently undertaken mor e info, link to site on autism Rasmussen's syndrome very rare age of onset: ( 1.5-14 years) ;<10 years in 80% focal motor seizures or generalized tonic clonic seizures intellectual deterioration, progressive hemiparesis variable severity, eventually plateaus, frequently leaves a neurologically devastated individual EEG shows bilateral or multifocal abnormalities with a uilateral predominance MRI shows progressive unilateral hemispheric atrophy beginning in the perisylvian region Ictal SPECT shows hyper-perfusion in the affected hemisphere Neuropathology: perivascular lymphocytic cuffing, glial nodules, microglial proliferation Antibody to GluR3 is one pathogenetic mechanism: click here For support there is a Rasmussen Syndrome Resource Group for families.

Spasmus Nutans: What to Do? Should Early Strabismus Surgery Be Performed for Ocular Torticollis to Prevent Facial Asymmetry? Sutures Can Adjustable Suture Surgery Be Performed With Conscious Sedation? Weissgold DJ, Maguire AM, Kalin NS, Hertle RW. Get notification of major content changes.

email: goodma02@utsw.swmed.edu 214-648-2359 FAX: 214-648-2994 The fundamental interests of our laboratory are the molecular mechanisms of protein trafficking, translocation of proteins across membranes, and organellar assembly. For several years we have used the peroxisome in yeast as a model system to study these fundamental issues of cell biology. At present there are three research problems under intense investigation in the labatory: 1) We have recently discovered that a folded oligomeric protein is competent for import into peroxisomes in vivo. At present we have identified a sequence of 20 amino acids that is sufficient to target a protein to the peroxisomal membrane. -------------------- McCammon MT, McNew JA, Willy PJ and Goodman JM (1994) An internal region of the peroxisomal membrane protein PMP47 is essential for sorting to peroxisomes. Yeast 10:1447-1457 McNew JA and Goodman JM (1994) An oligomeric protein is imported into peroxisomes in vivo.

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Association of Clinical Biochemists Biochemical Society The Royal Society Federation of American Societies for Experimental Biology Physiological Society Federation of European Biochemical Societies Red Latinoamericana de Enfermedades Metabólicas Society for Inherited Metabolic Disorders (North America) Vereniging voor Kinderen met Stofwisselingsziekten (Netherlands) Diagnostic centres and assay finder services British Inherited Metabolic Diseases Group and UK Directory of Laboratories Diagnosing Inborn Errors Assay Finder Directory UCSD Biochemical Genetics Center for Inherited Disorders of Energy Metabolism Australian National Referral Laboratory for Peroxisomal, Lysosomal and other genetic disorders European Directory of DNA Laboratories OMIM -- Online Mendelian Inheritance in Man Mutation Database Homepage Metab-L Mailing List Inborn Errors Mailbase Genetic Diseases Discussion List Rare Genetic Diseases In Children Gaucher Disease, US Gauchers Association, UK National Association for Rare Disorders, US Pearson Syndrome Association for Glycogen Storage Disease, UK National Tay Sachs Disease Homepage (US) Pediatrics Info University of Newcastle Department of Child Health Metabolic Pathways Homepage KUMC Genetics Education Center Great Ormond Street Hospital/Institute of Child Health Points of Pediatric Interest MITOMAP: A mitochondrial DNA database IEM-FAMILY Sudden Infant Death Syndrome Homepage Batten's Disease mailing list: e-mail:majordomo@arenza.com with the message " subscribe Battens-l (your address)" The Society for Mucopolysaccharide Diseases Home Page  If you want to update or add any links, please e-mail s.eaton@ich.ucl.ac.uk 

Most peroxisomal membrane and matrix proteins are synthesized in the cytosol and then imported post-translationally to the organelle. The PTS I sequence, is a C-terminal tripeptide (SKL or variants) and is the major PTS. The PTS2 sequence, is an N-terminal peptide used by a smaller subset of proteins. Genetic evidence also exists in yeast and human cells for PTSI and PTS2-dependent import pathways. We have identified, cloned and characterized the PTSL receptor from P. pastoris and human cells, and shown that the human receptor can complement cells from patients with two fatal generalized peroxisomal disorders, Zellweger syndrome and neonatal adrenoleukodystrophy. Heat-shock proteins (hsp7O) are required in the cytosol for import of PTSI-containing proteins. Surprisingly, however, protein unfolding does not seem to be necessary for protein import into peroxisomes.

1995 Index by TITLE Can Adjustable Suture Surgery Be Performed With Conscious Sedation? Weissgold DJ, Maguire AM, Kalin NS, Hertle RW. Should Early Strabismus Surgery Be Performed for Ocular Torticollis to Prevent Facial Asymmetry? Spasmus Nutans: What to Do? Get notification of major content changes.

R. Strijker, G. Blom van Assendelft, B. D. Dikkeschei, M. Gruber & G. Ab J Steroid Biochem 24: 281-5 (1986) [86201707] Differential estrogen responsiveness of the vitellogenin and apo very low density lipoprotein II genes in the rooster liver. K. Kok, L. Snippe, G. Ab & M. Gruber Biochemistry 23: 4275-9 (1984) [85023316] Amino acid sequence of phosvitin derived from the nucleotide sequence of part of the chicken vitellogenin gene. B. M. Byrne, A. D. van het Schip, J. A. van de Klundert, A. C. Arnberg, M. Gruber & G. Ab EMBO J 2: 2271-9 (1983) [84131940] Sequence homologies within the 5' end region of the estrogen-controlled vitellogenin gene in Xenopus and chicken. F. C. Meijlink, A. D. van het Schip, A. C. Arnberg, B. Wieringa, G. Ab & M. Gruber Biochim Biophys Acta 655: 446-8 (1981) [82024147] Terminal strand-switching of E. coli RNA polymerase transcribing a truncated DNA fragment. A. J. Van Ooyen, H. A. De Boer, A. B. Geert & M. Gruber Nature 254: 530-1 (1975) [75138245] Specific inhibition of ribosomal RNA synthesis in vitro by guanosine 3' diphosphate, 5' diphosphate. A. J. van Ooyen, H. A. de Boer, G. Ab & M. Gruber Biochem Biophys Res Commun 61: 367-74 (1974) [75072574] Effect of estradiol on the RNA content and the activity of nucleolar RNA polymerase from rooster liver.

Gabi Stumpf, Andreas Goppelt, and Horst Domdey 2204-2213 SUI1/p16 Is Required for the Activity of Eukaryotic Translation Initiation Factor 3 in Saccharomyces cerevisiae Pascale Lesage, Xiaolu Yang, and Marian Carlson 1921-1928 Binding of the Ets Factor GA-Binding Protein to an Upstream Site in the Factor IX Promoter Is a Critical Event in Transactivation Janet Mead, Hualin Zhong, Thomas B. Acton, and Andrew K. Vershon 2135-2143 Genetic Characterization of Transactivation of the Human T-Cell Leukemia Virus Type 1 Promoter: Binding of Tax to Tax-Responsive Element 1 Is Mediated by the Cyclic AMP-Responsive Members of the CREB/ATF Family of Transcription Factors Nicholas Harden, Joel Lee, Hui-Yong Loh, Yong-Mei Ong, Ivan Tan, Thomas Leung, Edward Manser, and Louis Lim 1896-1908 Shc Proteins Are Localized on Endoplasmic Reticulum Membranes and Are Redistributed after Tyrosine Kinase Receptor Activation Kyle W. Cunningham and Gerald R. Fink 2226-2237 A Yeast Protein Related to a Mammalian Ras-Binding Protein, Vps9p, Is Required for Localization of Vacuolar Proteins Christopher G. Burd, Peggy A. Mustol, Peter V. Schu, and Scott D. Emr 2369-2377 The Pichia pastoris PER6 Gene Product Is a Peroxisomal Integral Membrane Protein Essential for Peroxisome Biogenesis and Has Sequence Similarity to the Zellweger Syndrome Protein PAF-1

All biological specimens shipped to the laboratory MUST be packaged in containers that comply with IATA Regulation 650. Local freight agents will be able to assist with this. If the specimen does not require to be frozen, it is only required that the specimens are well insulated from temperature extremes. Do NOT place the patient material in direct contact with the coolant; wrap the specimens in newspaper or cotton wool (eg a disposable baby nappy/diaper) to keep it well separated from the coolant. NEVER pack specimens that must not be frozen in a container of dry ice, no matter how well the specimen appears insulated from the dry ice. It is virtually assured that everything inside a package of dry ice will be frozen on arrival in the laboratory

, San Francisco, CA 94080, USA, 4Department of Chemistry, Biochemistry and Molecular Biology, Oregon Gaduate Institute, Portland, OR 97291, USA and 6Corresponding author ABSTRACTFluorescent peroxisomal probes were developed by fusing green fluorescent protein (GFP) to the matrix peroxisomal targeting signals PTS1 and PTS2, as well as to an integral peroxisomal membrane protein (IPMP). These proteins were used to identify and characterize novel peroxisome assembly (pas) mutants in the yeast Pichia pastoris. Mutant cells lacking the PAS10 gene mislocalized both PTS1-GFP and PTS2-GFP to the cytoplasm but did incorporate IPMP-GFP into peroxisome membranes. While peroxisomes from translocation-competent pas mutants sediment in sucrose gradients at the density of normal peroxisomes, >98% of peroxisomes from pas10 cells migrated to a much lower density and had an extremely low ratio of matrix:membrane protein. Keywords: green fluorescent protein/integral peroxisomal membrane protein/peroxisome assembly/protein translocation/RING finger Pages: 3275 - 3285 Part of the OUP EMBO Journal WWW service This page is maintained by OUP admin Last updated 15 Jul 96 Part of the OUP Journals World Wide Web service.

age of onset: newborn -> infancy risk factors: see differential diagnosis Toxic drug withdrawal (MgSO4, opiates, anaesthetic) intoxication most common causes of floppy infant posture - square window - popliteal angle head lag - arm recoil - leg recoil ventral suspension - scarf sign - heel to ear ankle dorsiflexion weakness (unable to move limbs off bed) normal or decreased reflexes fatiguability fasciculations lack of muscle mass (atrophy) social and cognitively age appropriate elevated CPK Andrew Morgan of the U. of Illinois College of Medicine found that only 1/3 of hypotonic babies were neurodevelopmentally normal by the time there were 5-7 years old (24% minimally impaired, 43% abnormal) and he recommends that all hypotonic infants be closely monitered and if needed, enrolled in early intervention services

Prognostic value of cathepsin-D expression in female breast cancer.

Hanstock C.C., Rothman D.L., Shulman R.G., Novotny E.J., Petroff O.A.C., and Prichard J.W., Measurement of ethanol in the human brain using NMR spectroscopy. , 260: 267-273 (1991) Prichard J., Rothman D.L., Novotny E., Petroff O., Kuwabara T., Avison M., Howseman A., Hanstock C., Shulman R., Lactate rise detected by 1H NMR in human visual cortex during physiologic stimulation. Rothman D.L., Hanstock C.C., Petroff O.A.C., Prichard J.W., Novotny E.J., and Shulman R.G., Localised 1H NMR measurements of glutamate in the human brain. Rothman D.L., Novotny E.J., Shulman G.I., Howseman A.M., Petroff O.A.C., Mason G., Nixon T., Hanstock C.C., Prichard J.W., Shulman R.G.. 1H-[13C] NMR measurements of [4-13C]glutamate turnover in human brain. Penn, A.M.W., Roberts, T., Hodder, J., Allen, P.S., Zhu, G. and Martin, W.R.W. Generalized mitochondrial dysfunction in Parkinson's disease detected by magnetic resonance spectroscopy of muscle. 35: 285-289 (1996) Ye, F.Q., Martin, W.R.W. and Allen, P.S. Estimation of the iron concentration in excised grey matter by means of proton relaxation measurements.

Hanstock C.C., Rothman D.L., Shulman R.G., Novotny E.J., Petroff O.A.C., and Prichard J.W., Measurement of ethanol in the human brain using NMR spectroscopy. , 260: 267-273 (1991) Prichard J., Rothman D.L., Novotny E., Petroff O., Kuwabara T., Avison M., Howseman A., Hanstock C., Shulman R., Lactate rise detected by 1H NMR in human visual cortex during physiologic stimulation. Rothman D.L., Hanstock C.C., Petroff O.A.C., Prichard J.W., Novotny E.J., and Shulman R.G., Localised 1H NMR measurements of glutamate in the human brain. Rothman D.L., Novotny E.J., Shulman G.I., Howseman A.M., Petroff O.A.C., Mason G., Nixon T., Hanstock C.C., Prichard J.W., Shulman R.G.. 1H-[13C] NMR measurements of [4-13C]glutamate turnover in human brain. Penn, A.M.W., Roberts, T., Hodder, J., Allen, P.S., Zhu, G. and Martin, W.R.W. Generalized mitochondrial dysfunction in Parkinson's disease detected by magnetic resonance spectroscopy of muscle. 35: 285-289 (1996) Ye, F.Q., Martin, W.R.W. and Allen, P.S. Estimation of the iron concentration in excised grey matter by means of proton relaxation measurements.

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The peroxisome, a small (0.5-1.0 micron) intracellular organelle, is the primary site of ß-oxidation of (VLCFA) Very Long Chain Fatty Acids: fatty acids with a backbone of twenty two carbons or greater. The mode of inheritance for group one is autosomal recessive with an occurrence rate of 1 in 120,000 whilst groups two and three follow an X-linked mode of inheritance and have a similar frequency of approximately 1:100000. X-Adrenomyeloneuropathy (X-AMN): Second in frequency to X-ALD, this form of the disease generally affects hemizygotes in their late 20's to 30's, when they experience progressive paraparesis, gate and sphincter disturbances due to spinal cord involvement. Age of onset of symptoms for the heterozygotes is late 30's to 40's. It is also worth noting that patients presenting in Neurology Clinic for investigation of M.S. like symptoms or in Endocrine Clinic for investigation of Addisons Disease should also be investigated for X-ALD or X-AMN. In diseases such as Zellweger Syndrome, Infantile Refsum Disease and Neonatal-ALD there is a significant increase in saturated and mono-unsaturated C26 and C24 straight chain fatty acids with a concomitant suppression of C22:0 straight chain fatty acid. The Hamilton Health Sciences Laboratory Program is a collaborative program of Hamilton Civic, St.

Special Topic: Current Applications of Gene Therapy Week 6 Non-traditional Inheritance: Imprinting, Mosaicism, Mitochondrial, UPD Special Topic: Hereditary Motor and Sensory Neuropathiesm, CMT, SMA, AT, Friedrich Ataxia, SCA's, HD, MJD Principles of Teratology Special Topic: Specific Teratogenic Agents Week 7 Genetic Screening, Common Birth Defects: CHD, CL/CP, NTD Special Topic: Practice of Genetic Counseling Prenatal Diagnostics and Screening Special Topic: A.R.T. - New Ways to Make Babies Week 8 Genetics of Common Cancers Special Topic: Cancer Genetic Counseling Molecular Biology of Cancer Special Topic: Selected Mendelian Disorders - Neurogenetic Disorders and Overgrowth Syndromes - Neurofibromatosis, Tuberous Sclerosis, Weaver, BWS, SGB, Soto Week 9 Population/Quantitative Genetics: H-W, Selection, Founder Effect, Inbreeding Special Topic: Quantitative Genetics Workshop Human Genome Project Special Topic: Eugenics and other 'Genetic Movements' Special Topic: ELSI/Genetics in the 21st Century Week 10 Fetal Pathology/Evaluation of the Stillborn Infant Special Topic: The Folic Acid Story Immunogenetics Special Topic: Hox genes in Limb Development

Qin and others - Peroxisomal multifunctional enzyme type II in rat Biocenter Oulu and †Department of Biochemistry, University of Oulu, FIN-90570 Oulu, Finland, and Departments of ‡Medical Biochemistry and §Clinical Chemistry, University of Oulu, FIN-90220 Oulu, Finland, ¦Theodor-Boveri-Institut für Biowissenschaften, Am Hubland, D-97074 Würzburg, Federal Repubic of Germany , and ¶Ludwig Institute for Cancer Research, Uppsala Branch, Box 595 S-751 24, Uppsala, Sweden Abbreviations used: 17-HSD, 17-hydroxysteroid dehydrogenase; cpMFE-II, coding region of perMFE-II; MMLV, Moloney murine leukaemia virus; MFE, multifunctional enzyme; perMFE-I, peroxisomal multifunctional 3,2-enoyl-CoA isomerase, 2-enoyl-CoA hydratase 1, -specific 3-hydroxyacyl-CoA dehydrogenase; perMFE-II, peroxisomal multifunctional 2-enoyl-CoA hydratase 2, -specific 3-hydroxyacyl-CoA dehydrogenase. Surprisingly, the full-length cDNA, amplified by PCR, had an open reading frame of 2205 bp encoding a polypeptide with a predicted Mr of 79331 and contained a potential peroxisomal targeting signal in the C-terminus (Ala-Lys-Leu). The predicted amino acid sequence showed a high degree of similarity with pig 17-hydroxysteroid dehydrogenase type IV and MFE of yeast peroxisomal -oxidation. Received 6 June 1996/13 August 1996; accepted 10 September 1996

J Am Vet Med Assoc 1969;155:1108-1114. J Am Vet Med Assoc 1974;165:276-280. Proc Ann Meeting Am Assoc Vet Lab Diag 1975;18:135-148. Craig AM, Meyer C, Koller LD, Schmitz JA. Koller LD, Voller BE, Hedstrom OR, Steppan LG, Kerkvliet NI, Thueson DO. The correlation between serum selenium and blood selenium in cattle.

The first is metabolic adaptations in Antarctic and temperate zone fishes. Sidell, B.D., E.L. Crockett, and W.R. Driedzic (1995) Antarctic fish tissues preferentially catabolize monoenoic fatty acids. Crockett, E.L. and B.D. Sidell (1993) Substrate selectivities differ for hepatic mitochondrial and peroxisomal b-oxidation in an Antarctic fish, Notothenia gibberifrons. Crockett, E.L. and B.D. Sidell (1993) Polyunsaturated fatty acids are metabolized by both mitochondrial and peroxisomal pathways of Antarctic fishes. Crockett, E.L. and B.D. Sidell (1990) Some pathways of energy metabolism are cold adapted in Antarctic fishes. Crockett, E.L. and B.D. Sidell (1992) Hepatic mitochondrial and peroxisomal b-oxidation in an Antarctic fish: substrate selectivity and metabolic partitioning.

Graphs are plotted on a coordinate system of predicted isoelectric point vs predicted molecular weight. The size of each symbol is determined by the codon adaptation index, which is a rough measure of potential protein abundance. YPD Protein Graphs All known yeast proteins Nuclear proteins Mitochondrial proteins Endoplasmic reticulum proteins Secretory pathway proteins Plasma membrane integral proteins Peroxisomal proteins All integral membrane proteins All peripheral membrane proteins All cytoplasmic ribosomal proteins All mitochondrial ribosomal proteins All transcription factors All protein kinases All heat shock proteins All GTPases All glycolytic enzymes All amino acid metabolic enzymes

Peroxisomes are ubiquitous single-membrane-bound organelles involving various metabolic pathways in eukarytotic cells. In human the major functions of peroxisomes include the beta-oxidation of long chain and very long chain fatty acids, biosynthesis of ether lipids, bile acids and cholesterol, and phytanic acid oxidation. The catalase, which converts hydrogen peroxide to water and oxygen, in peroxisomes is critical to peroxisome metabolism since it eliminates the hydrogen peroxide generated by peroxisomal enzymes, most of which are hydrogen peroxide-producing oxidases. By taking advantage of the conserved peroxisomal properties and the powerful genetic, molecular and biochemical analysis system available in yeast, the yeast peroxisome assembly (pas) genes will accelerate the identification of novel human PBD genes. The project I am working on now is identification and characterization of a novel human PBD gene which might be the human ortholog of one of the pas gene of Pichia pastoris , the methylotropihc yeast whose growth on methanol and oleate medium requires peroxisomal activities. PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes.

Home Institute Home NMR Research Education Patient care Laboratories Paramedical departments People FMW This page was developed by Udo Engelke, comments are greatly appreciated, e-mail: u.engelke@ckslkn.azn.nl. This page is still under construction, Last update: 9 december 1996. Xanthine dehydrogenase deficiency (urine spectrum) Molybdenum-cofactor defect Dihydropyrimidinase deficiency Dihydropyrimidine dehydrogenase deficiency Lesch-Nyhan disease / Hypoxanthine-guanosine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase deficiency (=APRT- deficiency) Adenylosuccinase deficiency Top of this page Propionic acidemia Succinate dehydrogenase deficiency (complex II) Complex I deficiency Biotinidase deficiency 3-Methylglutaconic aciduria 3-Methylcrotonic aciduria Methylmalonic acidemia Ethylmalonic acidemia Canavan disease 5-Oxoprolinuria (blood spectrum) Maple Syrup Urine Disease Alcaptonuria 4-Hydroxybutyric aciduria D-2-Hydroxyglutaric aciduria L-2-Hydroxyglutaric aciduria MCAD deficiency; Medium Chain Acyl-CoA Dehydrogenase deficiency Glutaric aciduria (secundary) Glutaric aciduria Isovaleric acidemia Lactic aciduria Top of this page Sarcosinemia Lysinaemia / Saccharopinuria Dimethylglycine dehydrogenase deficiency (urine spectrum and blood spectrum) Phenylketonuria Nonketotic hyperglycinemia Hartnup disease Argininosuccinic aciduria Histidinemia Citrullinemia Prolidase deficiency Prolinemia Tyrosinemia type I Top of this page

Sym_mouse 0: Chr_mouse Alias Search_sym Sort_by_mouse_sym Map_ccr Map_mit Chr_band Locus_name Map_method Sym_human Chr_human Chr_hs_guess Comment Reference Ref_ccr Anchor_comp Chr_cat Chr_cow Chr_deermus Chr_dog Chr_fox Chr_hamster Chr_horse Chr_mink Chr_mouse_predicted Chr_pig Chr_rabbit Chr_rat Chr_sheep Comp_note Cosmid_hsa Cosmid_mmu Enzyme Genbank Gene_note Is_129 Is_a Is_akr Is_balbc Is_c3h Is_c57bl6 Is_dba2 Is_sjl Locus_type Map_gbase Map_cm_hsa Map_mb_has Flpter_hsa Map_note Map_panel Mit_a Mit_akr Mit_assay Mit_c57bl6 Mit_balbc Mit_c3h Mit_cast Mit_dba2 Mit_ob Mit_lp Mit_nod Mit_non Mit_spr Neighbor_cen Neighbor_tel Panel_name Phenotype Primer Repeat_info Ri_axb_bxa Ri_akxd Ri_akxl Ri_bxd Ri_bxh Ri_bxj Ri_cxb Ri_cxj Ri_cxs Ri_lxp Ri_nx8 Ri_nx9 Ri_nxsm Ri_oxa Ri_swxj Ri_swxl Yac_hsa Yac_mmu Year Sort_by_group Sort_by_human_chr Sort_by_human_sym Status 3/31/93 12/1/94 Jax_number Accession_mdb A000001 Aat3 RW Alpha-1 PI-3 aat3 Aat003 alpha 1 antitrypsin 3 Title of PNAS paper by Borriello & Krauter 1991: Multiple murine alpha-1 protease inhibitor gens show unusual evolutionary divergence. D 1991 RW personal 8/10/94 R111142 Aat4 RW Alpha-1 PI-4 aat4 Aat004 alpha 1 antitrypsin 4 Title of PNAS paper by Borriello & Krauter 1991: Multiple murine alpha-1 protease inhibitor gens show unusual evolutionary divergence. D 1991 RW personal 8/10/94 R111143 Aat5 RW Alpha-1 PI-5 aat5 Aat005 alpha 1 antitrypsin 5 Title of PNAS paper by Borriello & Krauter 1991: Multiple murine alpha-1 protease inhibitor gens show unusual evolutionary divergence. Heisterkamp N 1989 Nucleic Acids Res 17:8821 & Heisterkamp N 1993 J Biol Chem 268:16903 & McDonald JD 1994 Genomics 23:229 1994 RW personal 9/17/94 10/17/94 R114075 Acadsb RW acadsb, sbcad acyl-CoA dehydrogenase, short/branched ACADSB Rozen R 1994 Genomics 24:280 U12778 (Hsa) 1994 RW personal 1/22/95 1/22/95 R115303 Acg RW acg Acg anticoagulant protein Sequence data in rat and human. Koyama K 1994 Genomics 21:460 61 B D brain (transmitter related) 1994 RW personal 8/10/94 10/7/94 R113645 Acro RW MUSAG acro Acro acrogranin Acrogranin is an acrosomal cysteine-rich glycoprotein and is the precusor of the growth-modulating peptides, granulins, and epithelins. Structure of the mouse activin receptor type II gene protein (receptor) 1992 RW personal 8/10/94 8/20/94 R111150 Adh2 RW adh2 adh002 alcohol dehydrogenase 2 AHD2 4q21-q25 Mapped in human, cat mink, rat.

The Hansenula polymorpha PEX14 gene encodes a novel peroxisomal membrane protein essential for peroxisome biogenesis The Hansenula polymorpha PER9 gene encodes a peroxisomal membrane protein essential for peroxisome assembly and integrity. The Yarrowia lipolytica gene PAY5 encodes a peroxisomal integral membrane protein homologous to the mammalian peroxisome assembly factor PAF-1. The Yarrowia lipolytica gene PAY2 encodes a 42 kDa peroxisomal integral membrane protein essential for matrix protein import and peroxisome enlargement but not for peroxisome membrane proliferation. Heterologous complementation of peroxisome function in yeast: the Saccharomyces cerevisiae PAS3 gene restores peroxisome biogenesis in a Hansenula polymorpha disruption mutant. The PAH2 gene is required for peroxisome assembly in the methylotrophic yeast Hansenula polymorpha and encodes a member of the tetrapeptide repeat family of proteins.

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(Received for publication, June 24, 1996, and in revised form, August 1, 1996) Ype Elgersma , Arnold Vos , Marlene van den Berg , Carlo W. T. van Roermund , Peter van der Sluijs '' , Ben Distel and Henk F. Tabak From the  Department of Biochemistry, Academic Medical Centre, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands, the  Departments of Pediatrics and Clinical Biochemistry, Academic Medical Centre, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands, and the '' Department of Cell Biology, Utrecht University School of Medicine, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands Most peroxisomal matrix proteins contain a carboxyl-terminal tripeptide that directs them to peroxisomes. The specificity of this peroxisomal targeting signal (PTS1) is remarkable considering its small size and its relaxed consensus sequence. Because many of these PTS1 variants seem to be functional in a species-dependent or protein context-dependent manner, we investigated the PTS1 requirements in a homologous context, using Saccharomyces cerevisiae and endogenous peroxisomal malate dehydrogenase (MDH3). Peroxisomal import of the MDH3-PTS1 variants was tested qualitatively by the ability to complement the mdh3 mutant and quantitatively by subcellular fractionation. Many of these variants do not fit the observed PTS1 requirements for heterologously expressed proteins, which suggests that additional domains in the protein may be of decisive importance whether or not a certain PTS1 variant is recognized by the components of the peroxisomal import machinery.

Natowicz is interested in the transport of newly synthesized lysosomal enzymes to lysosomes and the genetic and non-genetic factors important in lysosomal enzyme regulation. Prence, E.M., Natowicz, M.R. and Zalewski, I. Unusual thermolability properties of leukocyte beta-hexosaminidase: Implications for Tay-Sachs disease carrier screening. Triggs-Raine, B., Richard, M., Wasel, N., Prence, E.M. and Natowicz, M.R. Mutational analyses of Tay-Sachs disease: Studies on Tay-Sachs carriers of French-Canadian background living in New England. Street, J.M., Evans, J.E. and Natowicz, M.R. Glucuronic acid conjugated dihydroxy fatty acids in the urine of patients with generalized peroxisomal disorders. Prence, E.M., Gleason, J. and Natowicz M.R. Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiencies. Natowicz, M.R. and Wang, Y. Human serum hyaluronidase: characterization of a clinical assay.

Carlsberg Laboratory, Gamle Carlsbergvej 10, DK - 2500 Copenhagen Valby, Denmark Corresponding author: Anders Brandt, Fax number: + 4533274766, E-mail address: brandt@biobase.dk Glyoxysomal 3-ketoacyl-CoA thiolase is the last enzyme in the beta-oxidation of fatty acids. This type of signal has been referred to as peroxisomal targeting signal 2 or PTS2. Here we report the isolation and nucleotide sequence determination of a full-length cDNA clone encoding glyoxysomal 3-ketoacyl-CoA thiolase from Brassica napus cv. The resulting PCR product contained the first 540bp of the coding region of the Brassica napus glyoxysomal thiolase. The resultant PCR product contained 846bp of the 3'- coding region of Brassica napus thiolase, flanked by 304bp of the 3'- untranslated region. While BnTHIO-15 is only 44% identical to rat mitochondrial thiolase, this strongly suggest that pBnthio-15 indeed encodes the glyoxysomal thiolase. The deduced polypeptide is 86% identical to the glyoxysomal thiolase from Cucumis sativus and Mangifera indica and 57% to rat, 53% to Saccharomyces cerevisiae and 44% to E.coli thiolase.

Cold Spring Harbor Symposia on Quantitative Biology, Volume LX In this volume of the most prestigious book series in biology, over 80 outstanding investigators provide a panoramic account of how cells control and repair the folding of newly synthesized proteins and transport them correctly to membranes, mitochondria and other cellular addresses. This authoritative volume is required reading for all cell biologists. It also provides in-depth background information for specialists in synaptic function, cell movement, antigen presentation and other cellular functions to which protein kinesis is vital. ); Late ATP-dependent and Ca++-activated Steps of Dense Core Granule Exocytosis (T.F.J. Martin et al.

Processed Sequence after Filtering and/or Trimming for Quality Visualization of BLAST Hits Percentage of Unknown (N) bases in Sequence Low Complexity Regions Blastx Results Summary Blastn Results Summary Blastx Hits Ordered by P-value Blastn Hits Ordered by P-value Citations and credits Percentage of Unknown (N) bases in Sequence Click on the "goto" in the first column to see more details: e.g. alignment and longer description of hit sequence from databank. Hit Accession Number B35725 of PIR database Hit Sequence Description : acetyl-CoA C-acyltransferase (EC 2.3.1.16) B precursor, peroxisomal - rat Length of Hit Sequence = 424 P-value = 1.200000e-06 HSP Alignments: Hit Accession Number B29452 of PIR database Hit Sequence Description : acetyl-CoA C-acyltransferase (EC 2.3.1.16) precursor, peroxisomal - rat Length of Hit Sequence = 424 P-value = 1.200000e-06 HSP Alignments: Hit Accession Number 205097 of GenInfo database Hit Sequence Description : Rat peroxisomal 3-ketoacyl-CoA thiolase mRNA, complete cds. [Rattus norvegicus] Length of Hit Sequence = 424 P-value = 1.200000e-06 HSP Alignments:

After obtaining a PhD degree in biochemistry in 1974 from The Indian Institute of Science, Bangalore, I did postdoctoral training at The Eunice Kennedy Shriver Centre, Waltham, The Harvard Medical School, Boston, The University of Manitoba Medical School, Winnipeg, and at The University of Connecticut Medical Centre, Farmington. I arrived in Australia in August 1983 and joined the research group of Professor.

Effect of the Ethanol Content of Beer on the Heat Resistance of a Spoilage Lactobacillus. The Induction of P450 I Proteins by Aromatic Amines May be Related to their Carcinogenic Potential. Bahr GM , Eales LJ , Nye KE , Majeed HA , Yousef AM , Behbehani K , Rook GAW . Physiological effects which control the initiation of microbial products synthesis. Plasma Melotonin Levels are Normal in Parkinsons Disease: Lack of Effect of Benserazide. Dunphy AM , Clegg RA , Snell K .

Slide seminars on specific themes will be held on Wednesday at 7:15-8:20 and Thursday and Friday at 7:15-8:20 and 12:15-13:15 Persons interested in participating or requiring further information about the Congress are invited to either email EMail: icnpth97@cyllene.uwa.edu.au or FAX (618) 212 5101 for a copy of the Pre-registration Form. This information is provided for prospective registrants of the XIIIth International Congress of Neuropathology, Burswood Resort, Hotel and Casino, September 7 - 12 1997. For further information email: icnpth97@cyllene.uwa.edu.au

9643: [R][W][F][D] : oleate-induced peroxisomal pox18 protein lipid-transfer pxp-18

Classified among the long-chain fatty acid disorders, Refsum disease encompasses both infantile and adult forms of different etiologies. Both forms are diagnosed by the finding of elevated concentrations of phytanic acid. Infantile Refsum disease is a primary disorder of peroxisomal development, evident by the organelles’ absence or paucity on electron microscopy;1 adult Refsum disease is due to a specific deficiency of mitochondrial phytanic acid alpha-hydroxylase, with normal peroxisomes. 2,3 Both conditions feature neurologic degeneration and retinitis pigmentosa, but only the infantile form is accompanied by dysmorphism. Long-chain fatty acid analysis is necessary for definitive diagnosis. 4,5 In the infantile form there is deficient oxidation of phytanic acid to pristanic acid, while in the adult form there is deficient degradation of both phytanic acid and pipecolic acid.

This page is searchable by disease name, enzyme name or any other text word using the Netscape Find button. Enzyme analyses are performed weekly and most mutation analyses are performed within 10 days. diagnosesGM1 gangliosidosisß-galactosidaseEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy, fresh frozen tissue2219 (3 affected)GM2 gangliosidosis, Type I (Tay-Sachs disease) ß-hexosaminidase AMutation analysis (pseudo-deficiency)EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy3239 (4 affected)GM2 gangliosidosis, Type 2 (Sandhoff disease) Mutation analysisEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy5235 (12 affected)Multiple sulphatase deficiencyVarious sulphatasesEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy62 (None affected)X-linked ichthyosisDehydroepiandrosterone sulphataseEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy83 (1 affected)Pseudo arylsulphatase deficiencySulphatidase (Arlysulphatase A)Mutation analysisEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy28Not requiredFabry diseaseTrihexosylceramidase (alpha-galactosidase)Mutation analysisEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy532 (None affected)Krabbe diseaseß-galactocerebrosidaseEDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy2740 (9 affected)Niemann-Pick disease type CCholesterol esterificationFilipin stainingCultured cells (skin fibroblasts, chorionic villus or amniotic cells), skin biopsy25NoneGaucher diseaseß-glucocerebrosidaseMutation analysis (including the recombinant variants)EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy9523 (5 affected)Wolman

PABA (Para-Aminobenzoic Urine MOLT SKBL 6 hr collection >250 mg (50%) Acid) w/o preservative - excretion refrigerate while Method: Colorimetric collecting 10 mL aliquot PABA is the end-product measured in the Bentiromide test for pancreatic insuf- ficiency. Pancreatic Polypeptide Plasm MOLT MAYO Lavender top see below 3 mL fasting Age Reference Range 0-19 yrs Not established 20-29 yrs <228 ng/L 30-39 yrs <249 ng/L 40-49 yrs <270 ng/L 50-59 yrs <291 ng/L 60-69 yrs <312 ng/L 70-79 yrs <332 ng/L (Write "Trasylol not added" on request slip. Parasites - Blood see Filaria, Malaria and Trypanosoma (specify --------------------------------------------------------------- organism Coccidia see entry under Coccidia sought if --------------------------------------------------------------- possible) Colonic Aspiration see entry under Stool --------------------------------------------------------------- Culture P406 MIC see also Amoebic Meningitis and Trichomonas Amoebae (esp. 24-72 hrs. --------------------------------------------------------------- Ectoparasite Identification see entry under Ectoparasites --------------------------------------------------------------- Filaria see entry under Filaria --------------------------------------------------------------- Giardia see Giardia lamblia and above under Duodenal Aspirate --------------------------------------------------------------- Hepatic P401 MIC 2 mL Wet mount and iron-hematoxy- Abscess lin-stained smears are ex- Aspirate amined for, e.g., E. histo- lytica For collection instructions see entry under Proctoscopic Smears --------------------------------------------------------------- Hookworm Speciation see entry under Hookworm --------------------------------------------------------------- Malaria see entry under Malaria --------------------------------------------------------------- Microsporidia see entry under Microsporidia --------------------------------------------------------------- Muscle Biopsy see entry under Trichinella --------------------------------------------------------------- Ova & Parasites see Stool entry below or other entries for specific organisms, sites and tissues --------------------------------------------------------------- Pinworm see entry under Pinworm Examination --------------------------------------------------------------- Pneumocystis see entry under Pneumocystis carinii --------------------------------------------------------------- Proctoscopic P401 MIC Sample at least six representative Smears and mucosal areas for examination by Aspirates wet mount and iron-hematoxylin stain Smears should be even, not very thick, and should air-dry slightly before fixation in Schaudinn's solution (call x62068 prior to examination for fixative in a Coplin jar). 24-72 hrs. P407 MIC see also entry under Coccidia --------------------------------------------------------------- String Test not offered - see Giardia lamblia --------------------------------------------------------------- Toxocara see entry under Toxocara --------------------------------------------------------------- Trichinella see entry under Trichinella --------------------------------------------------------------- Trichomonas see entry under Trichomonas --------------------------------------------------------------- Trypanosoma see entry under Trypanosoma --------------------------------------------------------------- Urine 410 MIC Prefer sample collected between 1000 and 1400 hrs For Schistosoma haematobium and (rarely) microfilariae. Parvovirus Serum P338 MIC SST w/1 mL serum OR Plasm Lavender top w/1 mL Method: PCR Marro plasma or bone marrow OR Amnio Pink top or other sterile tube w/1 mL amniotic fluid Do NOT collect in heparin Consult Hematology (x62647) for this test, which is performed upon serum, plas- ma, or bone marrow to determine whether parvovirus infection is the cause of anemia in patients who have an unexplained marked decrease in erythroid pre- cursor cells in bone marrow or a low peripheral reticulocyte count.

Organizers: C. Downes (Dundee) C. Wolfe (Dundee) Adaptive responses to environmental chemicals Speakers: R. Davis (Uni of Massachusetts) Signal transduction by the JNK group of MAP kinases D. G. Hardie (Dundee) The role of the AMP activates protein kinase in cellular responses to stress J. Kyriakis (Massachusetts Hospital) Stress-activated signal transduction networks in mammalian cells J. Millar (NIMR, London) The stress activated MAP kinase pathways of budding and fission yeasts J. Pouyssegur (CNRS, Nice) How fidelity is conveyed through MAP kinase modules J. Saklatvala (Babraham, Cambridge) Title to be announced J. Landry (Quebec) Heat shock protein 27-mediated functions of the p38 map kinase pathway S. Jackson (Wellcome, Cambridge) The recognition and repair of radiation-induced DNA double strand breaks D. P. Lane (Dundee) The p53 response to cellular stress in vivo and in vitro T. Curran (Memphis) Ref-1: a bifunctional enzyme involved in redox regulation of transcription factors and DNA repair R. Treisman (ICRF, London) Regulation of SRE function by cooperating signal pathways R. Morimoto (Northwestern Uni, USA) Sensing stress and protein damage by heat shock transcription factors and molecular chaperones J. Hayes (Dundee) Cellular response to chemoprotective P. Borst (The Netherlands) Multidrug resistance of cancer cells C. F. Higgins (Oxford) Multidrug resistance P-glcoprotein G. Evan (ICRF, London) Interplay between cytokine signalling and oncogene expression in the control of cell viability B. Demple (Harvard, Massachusetts) A redox-sensing transcription factor governing a stress response to superoxide and nitric oxide R. Kannar (Rotterdam, The Netherlands) DNA Repair by homologous recombination in mammals Oral presentations will be selected from posters associated with this Symposium and a prize awarded Organizers: C. Downes (Dundee) Cross-talk between Phospholipase C and PI3-kinase mediated signals L. O'Neill (Dublin) Speakers: S. Cockroft (London) Phosphatidylinositol transfer proteins in phosphoinositide signalling N. Divecha (Babraham Inst, Cambridge) Nuclear inositol lipids T. F. J. Martin (Wisconsin) Role of inositol phospholipids in regulated secretion S. Emr (Howard Hughes, La Jolla) Lipids kinases and vesicular trafficking P. T. Hawkins (Babraham Inst, Cambridge) Signalling via PI3-kinases A. Ridley (Ludwig Inst, London) Signalling shape change via the actin cytoskeleton A. J. Morris (New York) Structure and Regulation of yeast and human phospholipases D M. J. Wakelam (Birmingham) The regulation and functions of mammalian phospholipase D B. Aggarwal (Houston, Texas) Role of ceramides in TNF-mediated apoptosis and NF-kB activation Y. A. Hannun (Duke Uni, North California) The sphingomyelin pathway R. Kolesnick (Cornell Uni, New York) Ceramide and apoptotic signalling C. Palmer (Dundee) Title to be announced W. Wahli (Lausanne, Switzerland) Role of the nuclear hormone receptor PPAR in lipid signalling Organizers: M. Barber (Hannah Research Institute, Ayr) R. Clegg (Hannah Research Institute, Ayr) K. Suckling (SmithKline Beecham) Speakers: K. Kim (Indiana) Roles of Acetyl-CoA carboxylase in diverse physiological processes M. Travers (Hannah Research, Ayr) Tissue-specific control of the Acetyl-CoA carboxylase gene M. Schweizer (Norwich) FIRE and ICE regulate Fatty Acid Synthase D. Carling (MRC, Hammersmith Hospital) Molecular characterisation of AMP-activated protein kinase and its role in the regulation of lipogenesis and cholesterogenesis G. Hardie (Dundee) Regulation of lipid metabolism according to cellular energy status - the AMP-activated protein kinase system L. Witters (Hanover, U.S.A) Roles of the5AMP-activated protein kinase family in cellular regulation R. Brownsey (Vancouver) Isoforms of acetyl-CoA carboxylase - structures, regulatory properties and metabolic functions R. Denton (Bristol) Signalling pathways involved in the stimulation of fatty acid synthesis by insulin S. Smith (Smithkline, Herts) Peroxisomal proliferator-activated receptors and the regulation of gene expression by lipid metabolites Nucleic Acids and Molecular Biology Group Organizers: D. Lilley (Dundee) Manipulation of DNA structure by junction-resolving enzymes S. Jackson (Cambridge) D. Rhodes (Cambridge) Telomeric DNA recognition Speakers: D. Lilley (Dundee) Manipulation of DNA structure by junction-resolving enzymes D. Rhodes (Cambridge, UK) Telomeric DNA recognition L. H. Pearl (London) Recognition and Repair of G:U mismatches by double strand specific uracial-DNA glcosylase R. Roberts (Beverly, Massachusetts) Those flipping methylases C. Crane-Robinson (Portsmouth) The HMG Box and its Interaction with DNA D. Rice (Sheffield) Insights into the molecular basis of recombination from studies on RuvA D. Sherratt (Oxford) Assembly and action of a recombination machine T. Richmond (EHT, Switzerland) The structure of the Nucleosome Core Particle at 2.8 A H. Buc (Pasteur, France) Correct and Incorrect pathways for the reverse transcriptases J. Puglisi (Santa Cruz, California) RNA-ligand interactions in translation G. Varani (MRC, Cambridge) RNA-Protein recognition during RNA maturation and development D. Moras (IGBMC, France) Structure of tRNA synthetases Dundee 30 - 31 July 1997 Organizers: T. Merry (Oxford Glycosystems) R. Malhotra (Glaxo-Wellcome) Provisional Programme Wednesday 30th July Chairpersons Tony Merry (Oxford GlycoSciences) Raj Malhotra (Glaxo Welcome) Introduction 09.15 - 10.00 Akira Kobata (Tokyo Metropolitan Institute of Gerontology) Session 1 - Techniques and applications 10.30 - 10.30 Raj Parekh (Oxford GlycoSciences) Glycosylation Studies in Proteome Analysis 10.30 - 11.00 Pauline Rudd (Oxford Glycobiology Institute) Glycosylation of CD molecules Free Communications 11.30 - 12.30 To be selected from abstracts Session 2 - Cancer, Xenotransplantation 2.00 - 2.30 Ruggero Pardi (Instituto di Ricovero e Cura a Cattere Scientifico, Italy) Alpha-galactose antigens in xenotransplantation 2.30 - 3.00 John Aplin (St Mary's Hospital, Manchester) Glycosylation markers in cancer 4.00 POSTER SESSION Thursday 31st July 09.15 - 10.00 Raymond Dwek (Oxford Institute of Glycobiology) Glycosylation in viruses 10.00 - 11.00 POSTER SESSION Session 3 - Lectins 11.00 - 11.30 Colin Hughes (National Institute for Medical Research, Mill Hill) Galectins 11.30 - 12.00 Rich Cummings (University of Oklahoma) P-Selectin and Ligands 12.00 - 12.30 Bob Sim (MRC Immunochemistry Research Unit, Oxford) Collectins 12.30 - 1.00 Mike Bird (Glaxo Welcome) Selectins of pharmaceutical interest Free Communications 2.00 - 3.00 To be selected from abstracts Session 4 - GPI anchors, Mucins and GAGS 3.00 - 3.30 Mike Ferguson (University of Dundee) Role of GPI anchors 3.30 - 4.00 Henrik Clausen (University of Copenhagen) Role of Mucins 4.00 - 4.30 John Gallagher (CRC Christie Hospital, Manchester) Role of Glycosaminoglycans

PNAS A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters

If you are interested in receiving any of these Newsletters please contact Mr. 4Gamma - Glutamyl Transpeptidase (GGT) in the diagnosis of liver disordersFebruary, 1974 NO. 64Factor VIII (Anti-Hemophilic Factor): Availability and Indications for use of Cryoprecipitate and Factor VIII ConcentrateFebruary, 1979 NO. All material on this site are copyright protected, but permission is granted for use as long as the source is credited. For further information please contact: Last updated June 2, 1996.

Somatic Mutations of the RET Proto-oncogene Are Not Required for Tumor Development in Multiple Endocrine Neoplasia Type 2 (MEN 2) Gene Carriers. Silencing of the Mammary-derived Growth Inhibitor (MDGI) Gene in Breast Neoplasms Is Associated with Epigenetic Changes. The FHIT and PTPRG Genes Are Deleted in Benign Proliferative Breast Disease Associated with Familial Breast Cancer and Cytogenetic Rearrangements of Chromosome Band 3p14. Ioannis Panagopoulos, Nikos Pandis, Sofia Thelin, Catarina Petersson, Fredrik Mertens, Ake Borg, Ulf Kristoffersson, Felix Mitelman, and Pierre Aman. KAI1 Expression Is Up-Regulated in Early Pancreatic Cancer and Decreased in the Presence of Metastases. Loss of Retinoic Acid Receptors in Mouse Skin and Skin Tumors Is Associated with Activation of the rasHa Oncogene and High Risk for Premalignant Progression. Resistance to Glucocorticoid-induced Apoptosis in Human T-Cell Acute Lymphoblastic Leukemia CEM-C1 Cells Is Due to Insufficient Glucocorticoid Receptor Expression.

Masters, Colin and Crane, Denis The peroxisome is a cellular organelle which performs a vital role in animals and plants. Many advances have been made in our understanding of the peroxisome in recent years. This book provides a basic introduction to the peroxisome, followed by detailed and comprehensive discussion of its structure and function, and coverage of human peroxisomal diseases. This is an authoritative and readable text, presented in a convenient format with numerous diagrams and chapter summaries, suitable for students and researchers in the biomedical sciences. Regulatory factors in peroxisomal metabolism/ 8.        6 halftones 89 line diagrams 32 tables Hardback        0-521-48212-7        $69.95

Title: Free radicals, antioxidants, and human disease: curiosity, cause, or consequence? Free radicals are molecules or atoms that have at least one unpaired electron which usually increases the chemical reactivity of the molecule. [1] The body makes another oxygen radical (ie, the unpaired electron is located on oxygen), superoxide (O.sub.2.sup. Radical plus radical If two free radicals meet, they can join their unpaired electrons and make a covalent bond (a shared pair of electrons). Radical plus non-radical Most molecules in the body are not radicals. ] + [HNO.sub.2] Second, the toxin is metabolised to a free radical - eg, carbon tetrachloride is converted to a free radical by hepatic cytochrome P-450: [Mathematical Expression Omitted] This radical reacts with oxygen to give a peroxyl radical: [CCl.sub.3.sup.

Introduction Sorting of Bacterial Proteins General aspects Analyses of signal sequences Other signals Membrane Topology of Proteins Recognition of transmembrane segments Prediction of membrane topology Sorting of Eukaryotic Proteins Transferons in general Mitochondrial matrix transferons Chloroplast stroma transferons Intra-organelle sorting Nuclear transferons Peroxisomal transferons Compartons in general ER-compartons Other compartons in cytoplasmic tails Targeting to lysosomes and vacuoles prediction of localization sites Degrons General aspects The N-end rule The PEST hypothesis The KFERQ motif Modons General aspects Glycosylations Phosphorylations Lipid anchors Concluding Remarks Last update October 10, 1994 nakai@nibb.ac.jp

Distel, Ben - The function of the PAS10 and the PAS20 proteins in peroxisomal protein import in S. cerevisiae. The function of the PAS10 and the PAS20 proteins in peroxisomal protein import in S. cerevisiae. Bochum, FRG. We have applied two positive genetic screens in the yeast S. cerevisiaewhich resulted in a large collection of peroxisome assembly ( pas) mutants that form the basis of our studies. This mutant has no detectable peroxisomes and peroxisomal matrix proteins are found in the cytoplasm. This resulted in identification of the PAS10 protein which is a receptor for proteins with a type I peroxisomal targeting signal (PTS1). We therefore propose that Pas10p functions as a mobile receptor, which selects PTS1-containing proteins in the cytosol and docks via the SH3 domain of Pas20p at peroxisomal import sites.

UCSD Biochemical Genetics, a great source for where to find labs and tests Metab-l Homepage, run by Dr. Christian Renner in Germany, who also coordinates the metab-l list (you can sign up for that list on this site, too! ) Department of Child Health, Check out the Metabolic Unit on the 5th floor of this site from the UK SSIEM, the Society for the Study of Inborn Errors of Metabolism Dr Simon Eaton, in the United Kingdom, maintains an open list focused on metabolic disorders. Access his Inborn Errors of Metabolism (IEM) site to subscribe, explore archives, or links to other metabolic sites. Society for Inherited Metabolic Disorders, or SIMD, which has some lab links and also a very good list of metabolic doctors, under the list of members. Inborn Errors (IEM) Family Network, which also has a list for families with adults or children with inborn errors of metabolism.

This report is from the Yeast Protein Database maintained by James I. Garrels at Proteome Inc. -- has similarity to mammalian peroxisome assembly factor PAF-1 | -- produces two transcripts, the shorter of which initiates 46-110 | -- human homolog is mutated in Zellweger syndrome (see 26198) | in Saccharomyces cerevisiae: forward and reversed genetics. DNA fragment located near the left telomere of yeast |

PNAS A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

THE SWISS-PROT PROTEIN SEQUENCE DATA BANK USER MANUAL Release 33, February 1996 Amos Bairoch Medical Biochemistry Department Centre Medical Universitaire 1, rue Michel Servet 1211 Geneva 4 Switzerland Telephone: (+41 22) 784 40 82 Fax: (+41 22) 702 55 02 Electronic mail address: BAIROCH@CMU.UNIGE.CH WWW server: http://expasy.hcuge.ch/ EMBL European Bioinformatics Institute (EBI) Hinxton Hall Hinxton Cambridge CB10 1RQ United Kingdom Telephone: (+44 1223) 494 400 Fax: (+44 1223) 494 468 Electronic mail address: DATALIB@EBI.AC.UK WWW server: http://www.ebi.ac.uk/ ----------------------------------------------------------------------- Acknowledgements This release of SWISS-PROT has been prepared by: o Amos Bairoch, Brigitte Boeckmann, Serenella Ferro, Vivienne Baillie Gerritsen, Chantal Hulo, Janet E. James, Madelaine Moinat, Julia Williams Nef and Shyamala Sundaram at the Medical Biochemistry Department of the University of Geneva; o Rolf Apweiler, Vivien Junker, Fiona Lang, Claire O'Donovan, and Alain Gateau at the European Bioinformatics Institute (EBI) at Hinxton Hall. SWISS-PROT contains sequences translated from the EMBL Nucleotide Sequence Database, prepared by the European Bioinformatics Institute For a recent reference see: Rodriguez-Tome P., Stoehr P.J., Cameron G.N. and Flores T.P.; Nucleic Acids Res. A small part of the information in SWISS-PROT was originally adapted from information contained in the Protein Sequence Database of the Protein Information Resource (PIR) supported by the Division of Research Resources of the NIH, National Biomedical Research Foundation, Georgetown University Medical Center, 3900 Reservoir road, N.W., Washington, D.C. 20007, U.S.A. For a recent reference see: George D.G., Barker W.C., Mewes H.-W., Pfeiffer F. and Tsugita A.; Nucleic Acids Res. Cross-references are made in SWISS-PROT to: o The X-ray crystallography Protein Data Bank (PDB) compiled at the Brookhaven National Laboratory, which is supported by the United States National Science Foundation, the Division of Research Resources of the NIH and the United States Department of Energy. 2) Conventions used in the data bank 2.1 General structure of the data bank 2.2 Classes of data 2.3 Structure of a sequence entry 3) The different line types 3.1 The ID line 3.2 The AC line 3.3 The DT line 3.4 The DE line 3.5 The GN line 3.6 The KW line 3.7 The OS line 3.8 The OG line 3.9 The OC line 3.10 The reference (RN, RP, RC, RX, RA, RL) lines 3.11 The DR line 3.12 The FT line 3.13 The SQ line 3.14 The sequence data line 3.15 The CC line 3.16 The // line Appendix A: Feature table keys A.1 Change indicators A.2 Amino acid modifications A.3 Regions A.4 Secondary structure A.5 Others Appendix B: Amino acid codes Appendix C: Format differences between the SWISS-PROT and EMBL data banks C.1 Generalities C.2 Differences in line types present in both data banks C.3 Line types defined by SWISS-PROT but currently not used by EMBL C.4 Line types defined by EMBL but currently not used by SWISS-PROT ----------------------------------------------------------------------- 1. FT STRAND 89 93 FT TURN 99 100 FT TURN 109 110 FT STRAND 112 113 FT TURN 115 116 FT STRAND 118 119 FT STRAND 124 125 FT STRAND 130 143 FT STRAND 152 159 FT STRAND 166 170 FT STRAND 173 174 FT TURN 183 184 FT STRAND 189 202 FT TURN 204 205 FT STRAND 207 212 FT HELIX 215 217 FT STRAND 218 218 FT STRAND 227 232 SQ SEQUENCE 233 AA; 25644 MW; 666D7069 CRC32; MSTESMIRDV ELAEEALPKK TGGPQGSRRC LFLSLFSFLI VAGATTLFCL LHFGVIGPQR EEFPRDLSLI SPLAQAVRSS SRTPSDKPVA HVVANPQAEG QLQWLNRRAN ALLANGVELR DNQLVVPSEG LYLIYSQVLF KGQGCPSTHV LLTHTISRIA VSYQTKVNLL SAIKSPCQRE TPEGAEAKPW YEPIYLGGVF QLEKGDRLSA EINRPDYLDF AESGQVYFGI IAL // Each line begins with a two-character line code, which indicates the type of data contained in the line.

Nervous system damage in many acquired allergic and infectious demyelinating diseases is specifically directed against myelin or myelin-forming cells with relatively little damage to other parenchymal elements /773 Multiple sclerosis is the most common demyelinating disease of the central nervous system in man / 773 Biochemical analyses of MS lesions reveal an increase of catabolic enzymes and a severe loss of myelin proteins and lipids / 775 Although the cause of MS is unknown, genetic, immunological, and environmental factors are believed to contribute to its pathogenesis /776 Experimental allergic encephalomyelitis is an animal model of autoimmune demyelination / 778 Guillain-Barre$PI$aa syndrome is an acute, monophasic, inflammatory demyelinating disease of the peripheral nervous system, often preceded by a viral infection / 781 Carbohydrate epitopes on the myelin-associated glycoprotein and/or other glycoconjugates are targets for autoimmune demyelination of the peripheral nervous system occurring in association with paraproteinemia / 781 Other acquired demyelinating diseases in humans may be secondary to viral infections, neoplasia, or immunosuppressive therapy /782 A number of animal diseases caused by viruses involve primary demyelination and are often associated with inflammation / 783 Biological toxins that produce myelin loss can be produced by exogenous infectious agents (e.g., diphtheria toxin) or lymphocytes (cytokines) / 787 Organotin and hexachlorophene cause edematous demyelination with splitting at the intraperiod line and without apparent damage to myelin-forming cells / 787 Lead is a common environmental pollutant that causes hypomyelination and demyelination /788 Tellurium treatment of young rats causes a demyelinating neuropathy / 788 Undernourishment leads to a preferential reduction in myelin formation / 788 Dietary deficiencies of specific substances can cause myelin deficits / 788 The archetypical model for secondary demyelination is Wallerian degeneration /789 Secondary demyelination occurs in subacute sclerosing panencephalitis and other diseases of the central nervous system / 789 The capacity for remyelination is much greater in the peripheral nervous system than the central nervous system / 790 Remyelination in the central nervous system can be promoted by various treatments, and therapy of human myelin disorders by this approach may be feasible / 790 Carbamyl phosphate synthetase deficiency /834 N-Acetylglutamate synthetase deficiency /834 Ornithine transcarbamylase deficiency / 834 Citrullinemia / 834 Argininosuccinic aciduria / 835 Arginase deficiency / 835 Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome / 835 Lysinuric protein intolerance / 835 Management of urea cycle defects / 835 Elevated ammonia produces severe CNS toxicity / 843 Abnormalities may involve neurotransmitter amino acids / 844 Abnormalities in protein synthesis are produced by ammonia and liver disease / 845 Elevated ammonia depresses metabolic energy reserves / 846

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ACADEMIC AND RESEARCH INTERESTS AND ACTIVITIES OF THE FACULTY   LABORATORY OF MOLECULAR PATHOLOGY   Michael Bennett, M.D. Professor   My laboratory is involved in studies of the immunobiology and immunogenetics of murine bone marrow cell (BMC) transplantation. The immunobiology also differs from that of solid tissue grafts in that rejection occurs even after lethal doses of irradiation and natural killer (NK) cells play an important role. Pila Estess, Ph.D. Assistant Professor   My laboratory studies the relationship between structure and function in proteins of the immune system, particularly lymphocyte surface receptors. Human T Cell Physiology- A. Documentation of the extent and physiologic consequences of memory/effector T cell heterogeneity in the human, including heterogeneity in 1) effector function (cytokine production, cytotoxic responses), 2) recirculatory potential (e.g. tissue-selective homing subsets), 3) triggering (i.e., anergy vs. B. Characterization of the mechanisms by which human memory/effector T cell heterogeneity is generated -- during the virgin to memory/effector "transition" in secondary lymphoid tissues, and/or during "re-activation" of established memory/effector T cells in either secondary lymphoid tissues or tertiary (extra lymphoid) sites of inflammation. Richard H. Scheuermann, Ph.D. Assistant Professor   The research interests of our group focus on the processes of neoplastic transformation and normal differentiation of lymphocytes.

MRI - Striking hyper T2 in globus pal, putamen & caudate Patterns of defects related to infarcts, Occipital lobes #1 Kearns-Sayre Syndrome - Auto Dom, elevated Serum Pyruvate Neuronal migration disorders - heterotopic gray, pachygyria Striking Basal Gang atrophy, Cb & brainstem follow Fahr Dz - diverse group of disorders w Striking basal gang calc

Our large Department has an outstanding programme of research in molecular and cell biology, which will be further enhanced by the opening of a new Centre for Biomolecular Sciences this year. Applications are invited for approximately 20 postgraduate studentships expected to be available to UK and EC graduates from October 1997 in the following research areas: Dr Alison Baker Targeting and import of plant peroxisomal proteins. Dr Steve Baldwin Molecular mechanisms and membrane trafficking of mammalian transport proteins in relation to cancer and diabetes therapy. Dr Alan Berry Protein engineering, de novo protein design and the rational design of enzymes for new functions. Prof John Findlay Structure, function, regulation, organisation and assembly of membrane receptors, ion-channels and transport proteins. Prof Peter Henderson Membrane proteins that transport sugars, antibiotics and hormone by-products.

We have determined and refined the three-dimensional structure of the spinach enzyme to 2.2Å resolution. (1989) The active site of spinach glycolate oxidase J. Biol. Lindqvist, Y. (1989) Refined structure of spinach glycolate oxidase at 2Å resolution. and Jörnvall, H. (1988) Primary structure of glycolate oxidase from spinach. (1985) Structure of glycolate oxidase from Spinach. (1980) Structure of glycolate oxidase from Spinach at a resolution of 5.5Å.

V Shaw, M Lawson A new text on the practice of paediatric dietetics, which has been written as the standard work for practising and student dietitians and medical and nursing personnel. It includes enteral and parenteral feeding, premature infants, diseases of organ systems, inborn errors of metabolism, lipid disorders, peroxisomal disorders, nutrition in cancer, abnormal eating behaviours and nutrition for children with feeding difficulties. edited by leading experts at Great Ormond Street, which is recognised as an international centre, with contributions from leading paediatric dietitians covers all diseases of the body system relating to diet deals with all the latest topics including nutritional support, HIV and AIDS, and the effects of diet on the immune system indispensable reference for all dietitians officially supported by the British Dietetic Association ContentsSection 1 Introduction: Ketogenic diet for epilepsy Disorders of amino acid metabolism, organic acidaemias and urea cycle defects Children from the ethnic minorities and those following cultural diets

Marsha Rosner, Ph.D. Growth factor receptor signaling; signal transduction in cell growth and differentiation. Charles Baum, M.D. Peroxisomal sterol transfer protein in the enhanced sterol synthesis in cell growth. Elizabeth Grove, Ph.D. Mechanisms underlying control of cell fate and differentiation in mammalian CNS. Dennis Hallahan, M.D. Signal transduction and gene expression in response to ionizing radiation. Michael Parmacek, M.D. Molecular mechanisms that regulate muscle development and proliferation. Marsha Rosner, Ph.D. Growth factor receptor signaling; signal transduction in cell growth and differentiation. Marcus Clark, M.D. Molecular mechanisms by which B cell antigen receptors couple to/activate tyrosine kinases.

"); document.write("The date is: "); document.write(Today.getMonth()+1,"/") document.write(Today.getDate(),"/"); document.write(Today.getYear()); // -- End of JavaScript code -------------- --> The Call Again Soon BBS supported over 300,000 log ons since it's inception in 1990. I hope to establish and maintain contact with my online friends in both the the WCSA and the World Message Exchange First Java experiments Visitor counter Leave E-Mail for Joe Johnson

RTG Genes in Yeast That Function in Communication between Mitochondria and the Nucleus Are Also Required for Expression of Genes Encoding Peroxisomal Proteins Anna Chelstowska ,  Ronald A. Butow From the Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, Texas 75235 NUCLEIC ACIDS, PROTEIN SYNTHESIS, AND MOLECULAR GENETICS --> In Saccharomyces cerevisiae cells with dysfunctional mitochondria, such as in petites, the CIT2 gene encoding the peroxisomal glyoxylate cycle enzyme, citrate synthase 2 (CS2), is transcriptionally activated by as much as 30-fold, a phenomenon we call retrograde regulation. Two genes, RTG1 and RTG2, are required for both basal and elevated expression of CIT2 (Liao, X., and Butow, R. A.(1993) Cell 72, 61-71). Different blocks in the tricarboxylic acid cycle also elicit an increase in CIT2 expression, but not to the extent observed in petites. We have examined whether other genes of the glyoxylate cycle exhibit retrograde regulation and the role of RTG1 and RTG2 in their expression. Surprisingly, RTG1 and RTG2 are required for efficient growth of cells on medium containing oleic acid, a condition which induces peroxisome biogenesis; these genes are also required together for oleic acid induction of three peroxisomal protein genes tested, POX1 and CTA1 involved -oxidation of long chain fatty acids and PMP27, which encodes the most abundant protein of peroxisomal membranes. These data indicate that, in addition to their role in retrograde regulation of CIT2, the RTG genes are important for expression of genes encoding peroxisomal proteins and are thus key components in a novel, three-way path of communication between mitochondria, the nucleus, and peroxisomes.

Structure/function studies of lysosomal enzymes using crystallography (in collaboration with Dr Mitchell Guss, Department of Biochemistry, University of Sydney) and affinity labelling with substrate analogues. Diagnosis of lysosomal storage disorders. Peroxisomal research encompassing fatty acid oxidation and ether lipid biosynthesis, transport mechanisms and pathogeneisis of peroxisomal disease Peroxisomal membrane transport of fatty acids Molecular biology of metachromatic leucodystrophy[Go Home][Laboratory Profile][Contact senior staff][Tests and Specimen requirements] [Sample preparation][Sample transport][Laboratory Experience][Charges for tests]

Report of the third international workshop on human chromosome 12 mapping 1995 Prepared by Peter Marynen and Raju Kucherlapati The third international workshop on human chromosome 12 mapping was held on the campus of the University of Leuven, Belgium during November 16-17, 1995. 12q13 is also the reported location for NFE2, nuclear factor (erythroid derivative 2) <<GDB>>, the natural resistance associated macrophage protein 2, NRAMP2-PEN <<GDB>>, RAB5B, a member of RAS oncogene family <<GDB>>, SCN8A, a sodium channel, voltage gated, type VIII, alpha polypeptide - mutations in whose mouse homologue, Scn8a, result in "motor end-plate disease" - <<GDB>>, also ZPK, a zipper (leucine) protein kinase found in human brain and ORW3, Osler-Rendu-Weber Syndrome 3 (a third locus for hereditary telangiectasia) <<GDB>>. There were 117 Genomic markers (including 47 polymorphic Genethon markers, and 48 markers designed at the Stanford Human Genome Center) and 48 cDNA or gene based markers. There were no inconsistencies between the Leuven map and the Stanford map (8 markers, 7 unique positions) and the Leuven and Whitehead maps (7 markers, 6 unique positions)(Table 4) Overall there was good correlation between the RH maps made by the different groups with only one 1000:1 order violation. There were 54 markers in common with the Stanford Radiation map and the consensus physical map (Table 5). There were 39 markers in common between the Leuven 12p map and the consensus physical map (Table 5).

Research Assistant in Neurology, Harvard Medical School Description of research: Biomedical Mass Spectrometry - The availability of collaborative resources for the analysis of biological samples by sophisticated instrumental techniques is of immense value for the progress of many diverse biomedical research projects. Evans' laboratory to meet the mass spectrometry needs of researchers at the Shriver Center and of other Boston area neuroscientists by providing a high level of expertise and state of the art instrumentation in a core facility. Brown, T.R., Szabo, G.K., McEntegart, C., Evans, J.E., Evans, B.A., Miceli, J.J., Quon, C., Dougherty, C., Kres, J. and Davoudi, H. Bioavailability studies of drugs with non-linear pharmacokinetics: II. Absolute bioavailability of intravenous phenytoin prodrug at therapeutic phenytoin serum concentrations determined by double stable isotope technique. Evans, J.E., Ghosh, A., Evans, B.A. and Natowicz, M.R. Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and µHPLC-continuous flow fast atom bombardment mass spectrometry. Street, J.M., Evans, J.E. and Natowicz, M.R. Glucuronic acid conjugated dihydroxy fatty acids in the urine of patients with generalized peroxisomal disorders.

We observed higher catalase activity (7.59 ± 0.41 mU/mg of protein) in cultured skin fibroblasts from Zellweger patients than in control fibroblasts (4.45 ± 0.29 mU/mg of protein). Moreover, we also found that the majority of the catalase in Zellweger cells was present in the inactive form. To understand the molecular basis of higher levels of catalase in Zellweger than control cells, we examined the rate of synthesis and turnover of catalase and levels of catalase mRNA and protein levels in Zellweger cells as compared with control cells. The initial rates of synthesis of catalase in Zellweger (1.68 ± 0.15 mU/mg of protein) and control (1.51 ± 0.14 mU/mg of protein) cells were similar. Although the rate of synthesis in Zellweger and control cells was initially similar, it was down-regulated to a lower level at ~72 h of culture in control fibroblasts as compared with Zellweger cells, which continued to synthesize catalase at the same rate up to 5 days in culture. The presence of similar levels of mRNA in control and Zellweger cells and continued synthesis of catalase in Zellweger cells at a higher level as compared with control cells suggest a loss of regulation at the translational level.

Cytology/surgical pathology Breast cancer Fine needle aspiration biopsy Gynecologic cytology Human papillomaviruses as precursors of cancer The education and role of the pathologist Cytology/surgical pathology Breast cancer Breast fine needle aspiration biopsy Etiologic and prognostic markers in breast and gynecologic cancers Fine needle aspiration biopsy Gynecologic oncology Surgical pathology Musculoskeletal pathology Cartilage and bone cell biology Environmental toxins and the developing skeleton Gene expression during fracture healing Mechanisms responsible for the maintenance of skeletal equilibrium Neoplastic and metabolic disorders of the musculoskeletal system Cytology/surgical pathology Fine needle aspiration biopsy Genitourinary pathology Huerthle cell metaplasia in Hashimotos thyroiditis Testicular teratomas Thyroid lesions Autopsy pathology Placental and fetal disorders Pediatric pathology Gastrointestinal pathology Surgical pathology Prevention of post surgical adhesions Polypeptide growth factors in inflammation and wound healing

Among 70,000+ projects, top WorkPage matches to the research "Peroxisomes: Endosymbiotic Organelles without a Genome?

embl:S68465 S68465 pas1-1 mutationswissprot:PAS1_YEAST P24004pir2:S38034 S38034Functions/properties: Mutants show inability to grow on oleic acid, accumulation of peroxisomal matrix enzymes in the cytosol, and absence of detectable peroxisomes at the ultrastructural levelpas1-1: C to T transition at position 325 (Genetics 135, 931-935 (1993))References: Erdmann R, Veenhuis M, Mertens D, Kunau W-H; Proc.

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Issue number 33, March 1993. An Update On Cytogenetics Issue number 35, September, 1993. Changes In Pretransfusion Testing Issue number 36 . Anatomic Pathology "State of the Art" Issue number 37, June, 1994 The Problem of Antimicrobial Resistance Issue number 38, Winter Issue, 1994 VLCFA Analysis: A Tool for the Diagnosis of Inherited Peroxisomal Disorders Issue number 39, Spring Issue, 1995 Activated Protein C Resistance and Thrombosis Issue number 40, Fall Issue, 1995. Methicillin-Resistant Staphylococcus Aureus (MRSA) Issue number 41, Winter Issue, 1996.

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This report is from the Yeast Protein Database maintained by James I. Garrels at Proteome Inc. C-term seq (mature): qdmwkat | -- mutant has large peroxisomes (22828) | -- null mutant has multiple buds, all without peroxisomes (22828) | detergent phase (Marshall PA, Krimkevich YI, Lark R, Goodman | G.R. A Saccharomyces cerevisiae genomic plasmid bank based on |

(Received for publication, April 26, 1996, and in revised form, July 1, 1996) Chun-Yang Fan , Jie Pan , Ruiyin Chu , Denise Lee § , Kimberly D. Kluckman § , Nobuteru Usuda , Inderjit Singh ¶ , Anjana V. Yeldandi , M. Sambasiva Rao , Nobuyo Maeda § and Janardan K. Reddy From the  Department of Pathology, Northwestern University Medical School, Chicago, Illinois 60611, the § Department of Pathology, University of North Carolina School of Medicine, Chapel Hill, North Carolina 27599, and the ¶ Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina 29464 Peroxisomal genetic disorders, such as Zellweger syndrome, are characterized by defects in one or more enzymes involved in the peroxisomal -oxidation of very long chain fatty acids and are associated with defective peroxisomal biogenesis. The biologic role of peroxisomal -oxidation system, which consists of three enzymes: fatty acyl-CoA oxidase (ACOX), enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase (HD), and thiolase, has been examined in mice by disrupting ACOX gene, which encodes the first and rate-limiting enzyme of this system. Homozygous (ACOX /) mice lacked the expression of ACOX protein and accumulate very long chain fatty acids in blood. However, these homozygous mice are viable, but growth-retarded and infertile. Few hepatocytes in 1-3-month-old ACOX / mice contain numerous peroxisomes, and these peroxisome-rich hepatocytes show no fatty change. At this stage, the basal mRNA levels of HD, thiolase, and other peroxisome proliferator-induced target genes were elevated in ACOX / mouse liver, but these mice, when treated with a peroxisome proliferator, showed no increases in the number of hepatic peroxisomes and in the mRNAs levels of these target genes.

Lysosomal enzyme screenWB Hep/edta, SF Galactosaemia enzyme screenWB Hep (a) Sample Type 24U:24 hour urine AFC :Amniotic fluid cells CSF :Cerebrospinal fluid CV:Chorionc Villus DBS:Dried blood spots Ery:Erythrocytes F:Faeces Jej biopsy: Jejunal biopsy L:Liver M:Muscle P :Plasma RBC:Red blood cells S :Serum SF:Skin fibroblasts U :Urine U(ASC):Urine + ascorbic acid WB: Whole blood WBedta:Ethylene diamine tetraacetic acid anitcoagulaed whole blood WBfluor:Fluoride oxalate anticoagulaed whole blood WBhep:Heparin anticoagulated whole blood (b) Locations

Listing of European laboratories by Metabolite test specialities

EDIGL1LG3LUCMWL Alanine glyoxylate aminotransferase def (oxaluria)L(frozen) Dihydroxyacetone phosphate acyl transferase def (DHAPAT)WBedta,SF Many peroxisomal disorders can be diagnosed by Very Long Chain Fatty Acid, Plasmalogen, Pristanic acid or Phytanic acid assay. (a) Sample Type 24U:24 hour urine AFC :Amniotic fluid cells CSF :Cerebrospinal fluid CV:Chorionic Villus DBS:Dried blood spots Ery:Erythrocytes F:Faeces Jej biopsy: Jejunal biopsy L:Liver M:Muscle P :Plasma RBC:Red blood cells S :Serum SF:Skin fibroblasts U :Urine U(ASC):Urine + ascorbic acid WB: Whole blood WBedta:Ethylene diamine tetraacetic acid anticoagulated whole blood WBfluor:Fluoride oxalate anticoagulated whole blood WBhep:Heparin anticoagulated whole blood (b) Locations

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EDIGL1LG3LUCMWL Alanine glyoxylate aminotransferase def (oxaluria)L(frozen) Dihydroxyacetone phosphate acyl transferase def (DHAPAT)WBedta,SF Many peroxisomal disorders can be diagnosed by Very Long Chain Fatty Acid, Plasmalogen, Pristanic acid or Phytanic acid assay. (a) Sample Type 24U:24 hour urine AFC :Amniotic fluid cells CSF :Cerebrospinal fluid CV:Chorionic Villus DBS:Dried blood spots Ery:Erythrocytes F:Faeces Jej biopsy: Jejunal biopsy L:Liver M:Muscle P :Plasma RBC:Red blood cells S :Serum SF:Skin fibroblasts U :Urine U(ASC):Urine + ascorbic acid WB: Whole blood WBedta:Ethylene diamine tetraacetic acid anticoagulated whole blood WBfluor:Fluoride oxalate anticoagulated whole blood WBhep:Heparin anticoagulated whole blood (b) Locations

Nuclear Proteins This category includes nuclear membrane, nuclear poles, and spindle pole body. Membership in this category is based on experimental evidence or strong homology to known nuclear proteins. Cytoplasmic proteins The number of proteins in this category is artificially low because documentation on the localization of many housekeeping enzymes is lacking. Plasma membrane proteins These are based on experimental evidence or strong homology to known plasma membrane proteins. Unspecified membrane proteins These proteins are strongly predicted to be membrane proteins either by the presence of 4 or more predicted transmembrane domains or by strong homology to known membrane proteins. Proteins of unknown localization All proteins not placed into one of the above categories.

Ruis3 Vienna Biocenter, Institut fur Biochemie and Molekulare Zellbiologie der Universitat Wien and Ludwig Boltzmann-Forschungsstelle fur Biochemie, Dr Bohrgasse 9, A-1030 Wien, Austria, 1Department of Biochemistry, Academic Medical Centre of the University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, Netherlands, 2Institut fur Tumorbiologie-Krebsforschung der Universitat Wien, Borschkegasse 8a, A-1090 Wien, Austria and 3Corresponding author ABSTRACTIn Saccharomyces cerevisiae, peroxisomes are the exclusive site for the degradation of fatty acids. Upon growth with the fatty acid oleic acid as sole carbon source, not only are the enzymes of [beta]-oxidation and catalase A induced, but also the peroxisomal compartment as a whole increases in volume and the number of organelles per cell rises. We previously identified a cis-acting DNA sequence [oleate response element (ORE)] involved in induction of genes encoding peroxisomal proteins. The aim of our investigation was to test whether a single mechanism acting via the ORE coordinates the events necessary for the proliferation of an entire organelle. These results indicate that fatty acids activate Pip2p, which in turn activates the transcription of genes encoding [beta]-oxidation components and acts as the crucial activator of peroxisomes. Keywords: ORE/peroxisome proliferation/PIP2/Saccharomyces cerevisiae/yeast Pages: 2924 - 2934 Part of the OUP EMBO Journal WWW service

1995 Jul-Aug; 17(4): 291-3 AB: Two patients with complex partial seizures who had been refractory to various antiepileptics were treated with clomipramine. It has been reported that imipramine is effective in absence and minor motor seizures, and its antiepileptic effect is thought to be related to the inhibition of the presynaptic re-uptake of serotonin and norepinephrine. The basic effect of clomipramine is the same as that of imipramine except that the inhibitory action of clomipramine on serotonin re-uptake is 5- to 10-times more potent than that of imipramine. 1995 May 4; 1235(2): 178-82 AB: In order to understand the relationship between peroxisomal dysfunction and clinical manifestations of peroxisomal disorders, the effect of thioridazine, a peroxisomal beta-oxidation antagonist, on the differentiation, membrane lipid composition and membrane fluidity of C-6 glial cells was examined. In our study, induction of 2',3'-cyclic-nucleotide 3'-phosphohydrolase (CNP), which was considered to be a membrane-associated enzyme closely associated with myelination, was inhibited with supplementation of thioridazine, followed by an increase in the relative concentration of longer chain fatty acids in cell membrane lipids, indicating that thioridazine causes impaired differentiation in the glial stem cell system. These results indicate that the alteration of the membrane lipid composition caused by thioridazine affects the differentiation of glial cells via the changes in membrane properties.

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PNAS Molecular characterization of the human peroxisomal branched- chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome Molecular characterization of the human peroxisomal branched- chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome

Classical morphologic investigations of the two prototypic peroxisomal diseases, X-linked, juvenile adreno-leukodystrophy (ALD) and cerebro-hepato-renal (Zellweger) syndrome (CHRS), have provided some insights into the pathogenesis of these disorders. The inflammatory component, a morphologic marker of disease activity, has been interwoven in ways unknown with a defect in very long chain fatty acid catabolism to produce the pathogenetic fabric of ALD. Recently, we have identified a number of effector molecules and cytokines in the early stages of these lesions, particularly TNF-a. Their primary source appears to be the hypertrophic astrocytes within these lesions. The hypothesis that a cytokine cascade may initiate and interact with a cell-mediated immune response has provided a new impetus for possible treatment of the devastating CNS demyelination in ALD patients. My current investigative interests include: 1) an elucidation of this white matter abnormality in CHRS; 2) to further elucidate the demyelinative lesion of ALD; and 3) to further our understanding of the spinal cord tract degeneration seen in adrenomyeloneuropathy, a variant of ALD.

Publication type: Original scientific article.

1995 Jul-Aug; 17(4): 291-3 AB: Two patients with complex partial seizures who had been refractory to various antiepileptics were treated with clomipramine. It has been reported that imipramine is effective in absence and minor motor seizures, and its antiepileptic effect is thought to be related to the inhibition of the presynaptic re-uptake of serotonin and norepinephrine. The basic effect of clomipramine is the same as that of imipramine except that the inhibitory action of clomipramine on serotonin re-uptake is 5- to 10-times more potent than that of imipramine. 1995 May 4; 1235(2): 178-82 AB: In order to understand the relationship between peroxisomal dysfunction and clinical manifestations of peroxisomal disorders, the effect of thioridazine, a peroxisomal beta-oxidation antagonist, on the differentiation, membrane lipid composition and membrane fluidity of C-6 glial cells was examined. In our study, induction of 2',3'-cyclic-nucleotide 3'-phosphohydrolase (CNP), which was considered to be a membrane-associated enzyme closely associated with myelination, was inhibited with supplementation of thioridazine, followed by an increase in the relative concentration of longer chain fatty acids in cell membrane lipids, indicating that thioridazine causes impaired differentiation in the glial stem cell system. These results indicate that the alteration of the membrane lipid composition caused by thioridazine affects the differentiation of glial cells via the changes in membrane properties.

Nuclear Proteins This category includes nuclear membrane, nuclear poles, and spindle pole body. Membership in this category is based on experimental evidence or strong homology to known nuclear proteins. Cytoplasmic proteins The number of proteins in this category is artificially low because documentation on the localization of many housekeeping enzymes is lacking. Plasma membrane proteins These are based on experimental evidence or strong homology to known plasma membrane proteins. Unspecified membrane proteins These proteins are strongly predicted to be membrane proteins either by the presence of 4 or more predicted transmembrane domains or by strong homology to known membrane proteins. Proteins of unknown localization All proteins not placed into one of the above categories.

The following is a list of support groups for families and friends of patients with lysosomal and peroxisomal disorders. In addition to Australian support groups, other the regional and international services are listed (where the address is available to us). If you have any questions that you would like answered on inherited diseases, genetics or diagnostic tests, please contact your local Medical Genetics Service. If you wish to add the name of related support groups to the above list, please contact the Department. [Go Home][Laboratory Profile][Contact senior staff][Tests and Specimen requirements] [Sample preparation][Sample transport][Laboratory Experience][Charges for tests]

We are beginning a genetic study of leukodystrophy patients. hypothesis is that some of these patients may have abnormalities in Our criteria for entry are: clinical and radiographic evidence of leukodystrophy, preferably progressive no obvious infectious or traumatic cause negative workup for known metabolic causes of leukodystrophy including peroxisomal diseases, mitochondrial disease, lysosomal disease, etc. Go back to Child-Neuro Homepage Go back to Clinical Studies Seeking Patients page For questions or comments, contact Kenneth Mack, M.D., Ph.D. Mack@waisman.wisc.edu Last updated 16-January-1996 by Leber@umich.edu.

Alf retired in January, 1997, but retains an Honorary position within the Department. Alf Poulos did his undergraduate studies at Sydney University and graduatedwith a Ph.D. from London University in 1969. In 1973 hewas appointed as a hospital scientist in the Department of ChemicalPathology where he helped to set up the enzymological and analyticalprocedures used for the diagnosis of lipid storage disorders. More recent interests include phenotype-genotypecorrelations in peroxisomal disease, fatty acid transport mechanisms inmitochondria and peroxisomes, and the pathogenesis of peroxisomal disease.The latter has led to the expansion of the Group's interests into cellularsignalling mechanisms, and the effects of the lipids which accumulate inperoxisomal disease on these mechanisms. In collaboration with Professor Antonio Ferrante from the Department ofImmunology at the Women's and Children's Hospital, we have demonstrated thatcertain fatty acids, and in particular the polyunsaturated fatty acids, haveprofound effects on the function of a number of different cell typesincluding T-cells, neutrophils, macrophages, and endothelial cells. Poulos A. (1995) Very long chain fatty acids - a review.

Very long chain fatty acids. Peroxisomal disorder, Zellweger Syndrome, Adrenoleukodystrophy (ALD), Adrenomyeloneuropathy (AMN), Refsum's Disease. Phytanic acid, very long chain fatty acids: C22:0, C24:0, C25:0, C26:0, C26:1. Collect blood in green top sodium heparin tube or purple top EDTA tube; centrifuge and separate plasma, freeze plasma. Patient should be fasting prior to collection. Ship frozen urine on dry ice by overnight delivery

Bovine Homolog: Chromosome: Syntenic group: References:

FIBROSIS Etiology Fibrosis is a common response to hepatocellular necrosis or injury, which may be induced by a wide variety of agents: any process disturbing hepatic homeostasis, especially inflammation, toxic injury, or altered hepatic blood flow; and infections of the liver (viral, bacterial, spirochetal, and parasitic). Numerous storage disorders due to inborn errors of metabolism are often associated, including lipid abnormalities (Gaucher's disease); glycogen storage diseases (especially types III, IV, VI, IX, and X); alpha1-antitrypsin deficiency; storage of exogenous substances as seen in iron-overload syndromes (hemochromatosis) and in copper storage diseases (Wilson's disease); disorders resulting in the accumulation of toxic metabolites (as in tyrosinemia, fructosemia, and galactosemia); and peroxisomal disorders (Zellweger syndrome). Numerous chemicals and drugs are implicated (especially alcohol, methotrexate, isoniazid, oxyphenisatin, methyldopa, chlorpromazine, tolbutamide, and amiodarone). Vascular disorders can also cause fibrosis: obstruction to both intrahepatic and extrahepatic bile flow and various disturbances of the hepatic circulation (eg, chronic heart failure, Budd-Chiari syndrome, veno-occlusive disease, portal vein thrombosis). All rights reserved.

Among 70,000+ projects, top WorkPage matches to the research "Proteins Required for Peroxisome Biogenesis in the Yeast Pichia Pastoris" are: .

Preferably select Australian couriers who use commercial flights (Australian or Ansett) for shipment. These flights generally adhere to scheduled departure and arrival times. Please telephone the Department with information on flight details and estimated arrival time in Adelaide Once the specimen is consigned, we require a facsimile confirmation with the specimen type, flight name and number, air waybill number (or shipping agent name and consignment number) and estimated arrival time in Adelaide. [Sample preparation][Laboratory Experience][Charges for tests][Research activities] [Postgraduate opportunities][Community information][News from the laboratory][Method sheets][Links to related services]

One of the long-chain fatty acid disorders, Zellweger syndrome is distinctive because of its dysmorphic features and absence of liver peroxisomes. Additional features include severe neurologic impairment and hepatomegaly with early death. The involved gene, located on chromosome 8q21.1,1 encodes a protein designated peroxisome assembly factor-1; mutations in this gene have been catalogued. Diagnosis is accomplished by very-long -chain fatty acid analysis, electron microscopic quantitation of peroxisomes,2 histochemical assay of peroxisomal enzymes (catalase and others will be absent)3 and, in some cases, DNA analysis. Hughes JL, Crane DI, Robertson E, Poulos A. Morphometry of peroxisomes and immunolocalization of peroxisomal proteins in the liver of patients with generalized peroxisomal disorders. Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome.

After completing my PhD at the Australian National University at the end of 1979, I went to The United States, where I undertook postdoctoral studies, first at The University of Wisconsin and then at The University of Cincinatti. On returning to Australia, I took up a research position in February 1983 with Dr Poulos

Leukodystrophy is killing my son Joey. He has neonatal adrenoleukodystrophy. It stole all of his sight and most of his hearing by the time he was eighteen months old. The Call Again Soon is dedicated to Joey. We encourage the exchange of information about the Leukodystrophies. We invite you to submit URL's relating to Leukodystrophy for inclusion in this site.

Codes used for subcellular localization Major categories csk cytoskeletal cyt cytoplasmic nuc nuclear mit mitochondrial ves vesicles of secretory system end endoplasmic reticulum gol Golgi vac vacuolar lip lipid particles pla plasma membrane pox peroxisomal exc extracellular, including cell wall mem unspecified membrane Minor categories mim mitochondrial inner membrane mom mitochondrial outer membrane spb spindle pole body ncl nucleolus num nuclear matrix nup nuclear pore wal cell wall

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Table of protein fold families The family index gives the position of the protein in a dendrogram constructed by average linkage clustering of Z-scores of pairwise structural similarity. The tree is cut at levels of 2, 3, 4, 5, 10 and 15 standard deviations above database average. This is TABLE3, an alphabetical index of the representative set. TABLE2 is sorted according to PDB codes. HEADERS shows the aligned pairs. A (C-TERMINAL DOMAIN) (PORE-FORMING DOMAIN)" 1cpcA 23.1.1.1.1.1 "C-PHYCOCYANIN" 1cpcB 23.1.1.1.1.1 "C-PHYCOCYANIN" 1cpt 59.1.1.1.1.1 "CYTOCHROME P450-TERP" 1croA 63.1.1.1.1.1 "CRO REPRESSOR" 1csh 123.2.1.1.1.1 "CITRATE SYNTHASE (E.C.4.1.3.7) COMPLEXED WITH OXALOACETATE" 1csmA 17.1.1.1.1.1 "2 MOLECULE: CHORISMATE MUTASE; 1CSM 4" 1csn 35.1.1.1.1.1 "MOLECULE: CASEIN KINASE-1;" 1ctdA 99.1.1.1.1.1 "TROPONIN C SITE III - SITE III HOMODIMER (NMR, 7 STRUCTURES)" 1ctf 9.2.2.1.1.1 "L7(SLASH)*

Purification of oxalate oxidase was accomplished by ultrasonic and heat treatments, ammonium sulphate fractionation and DEAE cellulose chromatography. Specific activity in crude extract was 0.59 mmol H2O2/mg protein which was 5 fold higher than the maximum reported for other preparations. The enzyme exhibits a definite substrate inhibitory effect with Km 5x10-4 M. The rate of H2O2 formation was linear up to first 7 min. The enzyme was inhibited by EDTA and diethyldithiocarbamate (DEDTC) but a-a'-dipyridyl had no effect. The inhibition by DEDTC was specifically reversed by Cu2+, while flavins (riboflavin, flavin adenine dinucleotide "FAD" and flavin mononucleotide "FMN") stimulate the enzyme in presence of Cu2+ only. The enzyme was unaffected by Na+, nitrate and some metal ions.

Laboratory profile and vision statement Key personnel, senior staff and contact numbers Diagnostic tests, specimen requirements and laboratory diagnostic experience (patient numbers for prenatal and postnatal tests) Specimen packaging prior to shipment and IATA Regulation 650 Transport of specimens to the laboratory Costs of test procedures Research activities and personnel Postgraduate activities and opportunities Community information NEWS from the lab Departmental seminar programme Methods for leucocyte preparation and hair follicle collection [Links to other services] This World Wide Web site was authored by Dr. The pages are optimised for use with the Netscape Web Browser v1.1.Any comments regarding improvments to these pages or suggestions for further information that could be included should be directed to Dr. Carey by email, telephone or facsimile The Web-Counter indicates that you are visitor number: since 17th July, 1996

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