Biochemical consequences of mutations causing the GM2 gangliosidoses
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Book Review
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Assessing the severity of the small inframe deletion mutation in the α‐subunit of β‐hexosaminidase A found in the Turkish population by reproducing it in the more stable β‐subunit
Sinici, İ., Tropak, M. B., Mahuran, D. J., Özkara, H. A.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
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Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins
Zhou, Dapeng, Cantu, Carlos, Sagiv, Yuval, Schrantz, Nicolas, Kulkarni, Ashok B., Qi, Xiaoyang, Mahuran, Don J., Morales, Carlos R., Grabowski, Gregory A., Benlagha, Kamel, Savage, Paul, Bendelac, Albert, Teyton, Luc
Published in Science (American Association for the Advancement of Science) (23.01.2004)
Published in Science (American Association for the Advancement of Science) (23.01.2004)
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Structure and distribution of an alu-type deletion mutation in Sandhoff disease
NEOTE, K, MCINNES, B, MAHURAN, D. J, GRAVEL, R. A
Published in The Journal of clinical investigation (01.11.1990)
Published in The Journal of clinical investigation (01.11.1990)
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Journal Article
Introduction of the α subunit mutation associated with the B1 variant of Tay-Sachs disease into the β subunit produces a β-hexosaminidase B without catalytic activity
Brown, C A, Neote, K, Leung, A, Gravel, R A, Mahuran, D J
Published in The Journal of biological chemistry (25.12.1989)
Published in The Journal of biological chemistry (25.12.1989)
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The role of the endosomal/ lysosomal system in amyloid-beta production and the pathophysiology of Alzheimer's disease: Reexamining the spatial paradox from a lysosomal perspective
Pasternak, Stephen Howard, Callahan, John William, Mahuran, Don Joseph
Published in Journal of Alzheimer's disease (01.02.2004)
Published in Journal of Alzheimer's disease (01.02.2004)
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Journal Article
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 disease
Korneluk, R G, Mahuran, D J, Neote, K, Klavins, M H, O'Dowd, B F, Tropak, M, Willard, H F, Anderson, M J, Lowden, J A, Gravel, R A
Published in The Journal of biological chemistry (25.06.1986)
Published in The Journal of biological chemistry (25.06.1986)
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Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cells
MUNDEL, T. M, HEID, H. W, MAHURAN, D. J, KRIZ, W, MUNDEL, P
Published in Journal of the American Society of Nephrology (01.03.1999)
Published in Journal of the American Society of Nephrology (01.03.1999)
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Conference Proceeding
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Isolation of cDNA Clones Coding for the β Subunit of Human β -hexosaminidase
O'Dowd, Brian F., Quan, Frank, Willard, Huntington F., Lamhonwah, Anne-Marie, Korneluk, Robert G., Lowden, J. Alexander, Gravel, Roy A., Mahuran, Don J.
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1985)
Published in Proceedings of the National Academy of Sciences - PNAS (01.02.1985)
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Journal Article
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds
MCINNES, B, POTIER, M, WAKAMATSU, N, MELANCON, S. B, KLAVINS, M. H, TSUJI, S, MAHURAN, D. J
Published in The Journal of clinical investigation (01.08.1992)
Published in The Journal of clinical investigation (01.08.1992)
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Isolation of cDNA Clones Coding for the α and β Chains of Human Propionyl-CoA Carboxylase: Chromosomal Assignments and DNA Polymorphisms Associated with PCCA and PCCB Genes
Lamhonwah, Anne-Marie, Barankiewicz, Teresa J., Willard, Huntington F., Mahuran, Don J., Quan, Frank, Gravel, Roy A.
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1986)
Published in Proceedings of the National Academy of Sciences - PNAS (01.07.1986)
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Journal Article
Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase
Neote, K, Brown, C A, Mahuran, D J, Gravel, R A
Published in The Journal of biological chemistry (05.12.1990)
Published in The Journal of biological chemistry (05.12.1990)
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Journal Article
Identification of an altered splice site in Ashkenazi Tay-Sachs disease
Arpaia, E, Dumbrille-Ross, A, Maler, T, Neote, K, Tropak, M, Troxel, C, Stirling, J L, Pitts, J S, Bapat, B, Lamhonwah, A M
Published in Nature (London) (05.05.1988)
Published in Nature (London) (05.05.1988)
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