Research Topics
| D J MahuranSummaryAffiliation: The Hospital for Sick Children Country: Canada Publications
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Detail Information
Publications
Biochemical consequences of mutations causing the GM2 gangliosidosesD J Mahuran
Research Institute, The Hospital for Sick Children, Toronto, Ont, Canada
Biochim Biophys Acta 1455:105-38. 1999..Biochemical characterization of these mutations has led to the localization of functional residues and/or domains within each of the encoded proteins...- The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport proteinD J Mahuran
Research Institute, The Hospital for Sick Children, 555 University Ave, Toronto, Ont M5G 1X8, Canada
Biochim Biophys Acta 1393:1-18. 1998..The exact mode-of-action of the GM2 activator in its role as a co-factor, and its specificity for various glycolipids are currently matters of debate in the literature... - Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunitsD J Mahuran
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
J Biol Chem 263:4612-8. 1988.... - Identification of an active acidic residue in the catalytic site of beta-hexosaminidaseR Tse
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Biochemistry 35:7599-607. 1996..4-fold but also raised the K(m) of the enzyme 11- of 3-fold, respectively. The above results strongly suggest that beta Asp196 is a catalytic acid residue in beta-hexosaminidase... 
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosisB Xie
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 50:1046-52. 1992..We conclude that the T412----C transition in the GM2 Activator gene of the patient is responsible for the disease phenotype...- The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosisD J Mahuran
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Biochim Biophys Acta 1096:87-94. 1991 - Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidaseK Neote
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Genomics 3:279-86. 1988..There are also sequences related or identical to a progesterone response element and an AP-1 binding motif... - Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2B Chen
Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Am J Hum Genet 65:77-87. 1999.... - Two mechanisms for the recapture of extracellular GM2 activator protein: evidence for a major secretory form of the proteinB Rigat
Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Biochemistry 36:8325-31. 1997..These molecules makeup the secreted forms of the protein in normal human fibroblasts... - Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidaseK Neote
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
J Biol Chem 265:20799-806. 1990..Such a large hydrophobic core has not been found in other cleavable signal peptides... - Structure and distribution of an Alu-type deletion mutation in Sandhoff diseaseK Neote
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
J Clin Invest 86:1524-31. 1990..Finally, the mutant allele was present in different ethnic backgrounds, suggesting that it may have been subject to genetic drift... - An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgroundsB McInnes
Research Institute, Hospital for Sick Children, Montreal, Quebec, Canada
J Clin Invest 90:306-14. 1992..The biochemical basis of his mild phenotype is uncertain, but may result from genetic variations in the RNA splicing machinery... - Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase AD J Mahuran
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
J Biol Chem 265:6794-9. 1990..These data confirm that similar processing intermediates exist in human placenta, suggesting that this I-form lacks a unique enzymatic function in vivo. A sequence of normal proteolytic processing events is postulated... - Cloning and expression of rat histidase. Homology to two bacterial histidases and four phenylalanine ammonia-lyasesR G Taylor
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
J Biol Chem 265:18192-9. 1990.... - Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotypeI Redonnet-Vernhet
Laboratoire de Biochimie Medicale, CJF INSERM 9206, Institut Louis Bugnard, Toulouse, France
Biochim Biophys Acta 1317:127-33. 1996.... - Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs diseaseR G Korneluk
J Biol Chem 261:8407-13. 1986..These data suggest a common origin of the HEXA and HEXB genes and account for the similar substrate specificities of the alpha-dimer subunit, hexosaminidase S, and hexosaminidase B... - W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosisE Petroulakis
Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada
Hum Mutat 11:432-42. 1998..The resulting W474C substitution clearly interferes with alpha-subunit processing, but because the base substitution falls at the first position of exon 13, aberrant splicing may also contribute to Hex A deficiency in this proband... - Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locusH H Heng
Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada
Genomics 18:429-31. 1993..In this report, we reconsider the candidacy of GM2A by refining its localization on chromosome 5 using fluorescence in situ hybridization. We localize GM2A to 5q31.3-q33.1; thus, it is not a candidate gene for SMA... - Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cellsT M Mundel
Department of Anatomy and Cell Biology, University of Heidelberg, Germany
J Am Soc Nephrol 10:435-43. 1999..In this study, a novel role for GM2-activator protein in intercalated cells is proposed, and possible roles in the shuttling mechanism are discussed... - Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidaseF Quan
Proc Natl Acad Sci U S A 82:1184-8. 1985..This RNA species was absent in the fibroblasts of one of three patients with Sandhoff disease examined. We anticipate that these clones will be of value to diagnosis and carrier detection of Sandhoff disease in affected families... - Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunitI Sinici
Department of Biochemistry, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey
J Inherit Metab Dis 27:747-56. 2004..These data indicate that the deletion of the four amino acids severely affects the folding of even the more stable beta-subunit, causing its retention in the endoplasmic reticulum and ultimate degradation...