Search Results - "MAHURAN, D" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

by Silveira, C R A, MacKinley, J, Coleman, K, Li, Z, Finger, E, Bartha, R, Morrow, S A, Wells, J, Borrie, M, Tirona, R G, Rupar, C A, Zou, G, Hegele, R A, Mahuran, D, MacDonald, P, Jenkins, M E, Jog, M, Pasternak, S H
Published in BMC neurology (09.02.2019)

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Journal Article

Biochemical consequences of mutations causing the GM2 gangliosidoses

Biochemical consequences of mutations causing the GM2 gangliosidoses

by Mahuran, Don J.
Published in BBA - Molecular Basis of Disease (08.10.1999)

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Book Review Journal Article

Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins

Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins

by 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)

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Journal Article

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

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

by Pasternak, Stephen Howard, Callahan, John William, Mahuran, Don Joseph
Published in Journal of Alzheimer's disease (01.02.2004)

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Journal Article

Evidence for the participation of β-hexosaminidase in human sperm–zona pellucida interaction in vitro

Evidence for the participation of β-hexosaminidase in human sperm–zona pellucida interaction in vitro

by Miranda, Patricia V., González-Echeverría, Fernanda, Blaquier, Jorge A., Mahuran, Don J., Tezón, Jorge G.
Published in Molecular human reproduction (01.08.2000)

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Journal Article

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2

Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2

by Chen, Biao, Rigat, Brigitte, Curry, Cynthia, Mahuran, Don J.
Published in American journal of human genetics (01.07.1999)

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Journal Article

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

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

by Sinici, İ., Tropak, M. B., Mahuran, D. J., Özkara, H. A.
Published in Journal of inherited metabolic disease (01.01.2004)

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Journal Article

Characterization of the Glu and Asp Residues in the Active Site of Human β-Hexosaminidase B

Characterization of the Glu and Asp Residues in the Active Site of Human β-Hexosaminidase B

by Hou, Yongmin, Vocadlo, David J, Leung, Amy, Withers, Stephen G, Mahuran, Don
Published in Biochemistry (Easton) (20.02.2001)

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Journal Article

Nicastrin is a resident lysosomal membrane protein

Nicastrin is a resident lysosomal membrane protein

by Bagshaw, Richard D, Pasternak, Stephen H, Mahuran, Don J, Callahan, John W
Published in Biochemical and biophysical research communications (17.01.2003)

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Journal Article

Desalting of In-Gel-Digested Protein Sample with Mini-C18 Columns for Matrix-Assisted Laser Desorption Ionization Time of Flight Peptide Mass Fingerprinting

Desalting of In-Gel-Digested Protein Sample with Mini-C18 Columns for Matrix-Assisted Laser Desorption Ionization Time of Flight Peptide Mass Fingerprinting

by Bagshaw, Rick D., Callahan, John W., Mahuran, Don J.
Published in Analytical biochemistry (10.09.2000)

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Journal Article

Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cells

Ganglioside GM2-activator protein and vesicular transport in collecting duct intercalated cells

by 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)

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Conference Proceeding Journal Article

Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A

Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A

by MAHURAN, D. J
Published in The Journal of biological chemistry (25.04.1990)

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Journal Article

Structure and distribution of an alu-type deletion mutation in Sandhoff disease

Structure and distribution of an alu-type deletion mutation in Sandhoff disease

by NEOTE, K, MCINNES, B, MAHURAN, D. J, GRAVEL, R. A
Published in The Journal of clinical investigation (01.11.1990)

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Journal Article

β-Hexosaminidase isozymes from cells cotransfected with α and β cDNA constructs : analysis of the α-subunit missense mutation associated with the adult form of Tay-Sachs disease

β-Hexosaminidase isozymes from cells cotransfected with α and β cDNA constructs : analysis of the α-subunit missense mutation associated with the adult form of Tay-Sachs disease

by BROWN, C. A, MAHURAN, D. J
Published in American journal of human genetics (01.08.1993)

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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

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

by Brown, C A, Neote, K, Leung, A, Gravel, R A, Mahuran, D J
Published in The Journal of biological chemistry (25.12.1989)

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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

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

by 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)

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Journal Article

Direct Determination of the Substrate Specificity of the α-Active Site in Heterodimeric β-Hexosaminidase A

Direct Determination of the Substrate Specificity of the α-Active Site in Heterodimeric β-Hexosaminidase A

by Hou, Yongmin, Tse, Roderick, Mahuran, Don J.
Published in Biochemistry (Easton) (02.04.1996)

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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

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

by 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)

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Journal Article

Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease

Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease

by BROWN, C. A, MAHURAN, D. J
Published in The Journal of biological chemistry (25.08.1991)

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Journal Article

The GM2 activator protein does not play a critical role in endosome and lysosome membrane fusion

The GM2 activator protein does not play a critical role in endosome and lysosome membrane fusion

by Xie, B, Mahuran, D
Published in Biochemical and biophysical research communications (30.05.1994)

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Journal Article

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