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

BMC neurology, 2019-02, Vol.19 (1), p.20-20, Article 20

2019

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Biochemical consequences of mutations causing the GM2 gangliosidoses

BBA - Molecular Basis of Disease, 1999-10, Vol.1455 (2), p.105-138

Mahuran, Don J.

1999

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

Science (American Association for the Advancement of Science), 2004-01, Vol.303 (5657), p.523-527

2004

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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

Journal of Alzheimer's disease, 2004-02, Vol.6 (1), p.53

2004

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

Molecular human reproduction, 2000-08, Vol.6 (8), p.699-706

2000

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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

American journal of human genetics, 1999-07, Vol.65 (1), p.77-87

1999

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Nicastrin is a resident lysosomal membrane protein

Biochemical and biophysical research communications, 2003-01, Vol.300 (3), p.615-618

2003

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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

Journal of inherited metabolic disease, 2004-01, Vol.27 (6), p.747-756

2004

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Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients

The Journal of biological chemistry, 2004-04, Vol.279 (14), p.13478-13487

2004

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Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

American journal of human genetics, 2006-10, Vol.79 (4), p.738-744

2006

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

Biochemistry (Easton), 2001-02, Vol.40 (7), p.2201-2209

2001

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

Analytical biochemistry, 2000-09, Vol.284 (2), p.432-435

2000

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A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

Molecular & cellular proteomics, 2005-02, Vol.4 (2), p.133-143

2005

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

Biochemistry (Easton), 1996-04, Vol.35 (13), p.3963-3969

1996

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The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein

Biochimica et Biophysica Acta (BBA)/Lipids and Lipid Metabolism, 1998-07, Vol.1393 (1), p.1-18

Mahuran, Don J

1998

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

Journal of the American Society of Nephrology, 1999-03, Vol.10 (3), p.435-443

1999

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

The Journal of clinical investigation, 1990-11, Vol.86 (5), p.1524-1531

1990

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

The Journal of biological chemistry, 1990-04, Vol.265 (12), p.6794-6799

MAHURAN, D. J

1990

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sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

Glycobiology (Oxford), 2010-03, Vol.20 (3), p.356-365

2010

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Presenilin-1, Nicastrin, Amyloid Precursor Protein, and γ-Secretase Activity Are Co-localized in the Lysosomal Membrane

The Journal of biological chemistry, 2003-07, Vol.278 (29), p.26687-26694

2003

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

The Journal of biological chemistry, 1991-08, Vol.266 (24), p.15855-15862

1991

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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

American journal of human genetics, 1993-08, Vol.53 (2), p.497-508

1993

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

The Journal of clinical investigation, 1992-08, Vol.90 (2), p.306-314

1992

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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

The Journal of biological chemistry, 1989-12, Vol.264 (36), p.21705-21710

1989

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Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease

Journal of molecular biology, 2003-04, Vol.327 (5), p.1093-1109

2003

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

Biochemical consequences of mutations causing the GM2 gangliosidoses

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

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

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

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

Nicastrin is a resident lysosomal membrane protein

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

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients

Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

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

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

A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle

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

The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein

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

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

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

sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

Presenilin-1, Nicastrin, Amyloid Precursor Protein, and γ-Secretase Activity Are Co-localized in the Lysosomal Membrane

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

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

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

Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease

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