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A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism

Human mutation, 1998, Vol.11 (S1), p.S329-S330

1998

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I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency

Journal of andrology, 1999-11, Vol.20 (6), p.779-802

1999

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Abnormalities in the NC1 domain of collagen type IV in GBM in canine hereditary nephritis

Kidney international, 1989-03, Vol.35 (3), p.843-850

1989

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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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Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

Journal of the neurological sciences, 1988-10, Vol.87 (1), p.103-119

1988

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Adult onset motor neuropathy in the juvenile type of hexosaminidase A and B deficiency

Journal of the neurological sciences, 1988, Vol.87 (1), p.103-119

1988

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An α-subunit loop structure is required for GM2 activator protein binding by β-hexosaminidase A

Biochemical and biophysical research communications, 2004-11, Vol.324 (3), p.1048-1052

2004

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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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The amino-terminal sequences in the pro-α and -β polypeptides of human lysosomal β-hexosaminidase A and B are retained in the mature isozymes

FEBS letters, 1989-06, Vol.249 (2), p.316-320

1989

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The Arf-family protein, Arl8b, is involved in the spatial distribution of lysosomes

Biochemical and biophysical research communications, 2006-06, Vol.344 (4), p.1186-1191

2006

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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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Assessing the severity of the small inframe deletion mutation in the ±-subunit of ²-hexosaminidase A found in the Turkish population by reproducing it in the more stable ²-subunit

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.747

2004

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The beta 2 subunit of human placenta hexosaminidase (Hex) A and B is a non-random association of the two polypeptides beta a and beta b

Bioscience reports, 1984-01, Vol.4 (1), p.59-63

1984

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β-hexosaminidase immunolocalization and α- and β-subunit gene expression in the rat testis and epididymis

Molecular reproduction and development, 1997-03, Vol.46 (3), p.227-242

1997

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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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The beta-hexosaminidase story in Toronto: from enzyme structure to gene mutation

Advances in genetics, 2001, Vol.44, p.145

2001

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Biochemical Characterization of the Cys138Arg Substitution Associated with the AB Variant Form of GM2 Gangliosidosis: Evidence That Cys138 Is Required for the Recognition of the GM2 Activator/GM2 Ganglioside Complex by β-Hexosaminidase A

Biochemistry (Easton), 1998-01, Vol.37 (3), p.814-821

1998

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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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Biochemistry and genetics of Tay-Sachs disease

Canadian journal of neurological sciences, 1991-08, Vol.18 (3 Suppl), p.419

1991

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The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

Biochimica et biophysica acta, 1991-02, Vol.1096 (2), p.87-94

Mahuran, D J

1991

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Characterization and substrate specificity of fumarylacetoacetate fumarylhydrolase

Canadian journal of biochemistry, 1977-01, Vol.55 (1), p.1

1977

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Characterization by nuclear magnetic resonance of the concanavalin A binding oligosaccharide on the beta b chain of placental beta-hexosaminidase B: lectin binding to the separated polypeptide chains of hexosaminidases A and B

Canadian journal of biochemistry and cell biology, 1985-07, Vol.63 (7), p.723

1985

Volltextzugriff (PDF)

Characterization of human placental beta -hexosaminidase I sub(2). Proteolytic processing intermediates of hexosaminidase A

The Journal of biological chemistry, 1990-01, Vol.265 (12), p.6794-6799

Mahuran, D J

1990

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Characterization of polypeptides serologically and structurally related to hexosaminidase in cultured fibroblasts

The Journal of clinical investigation, 1983-04, Vol.71 (4), p.965-973

1983

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A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism

I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency

Abnormalities in the NC1 domain of collagen type IV in GBM in canine hereditary nephritis

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

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

Adult onset motor neuropathy in the juvenile type of hexosaminidase A and B deficiency

An α-subunit loop structure is required for GM2 activator protein binding by β-hexosaminidase A

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

The amino-terminal sequences in the pro-α and -β polypeptides of human lysosomal β-hexosaminidase A and B are retained in the mature isozymes

The Arf-family protein, Arl8b, is involved in the spatial distribution of lysosomes

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 ±-subunit of ²-hexosaminidase A found in the Turkish population by reproducing it in the more stable ²-subunit

The beta 2 subunit of human placenta hexosaminidase (Hex) A and B is a non-random association of the two polypeptides beta a and beta b

β-hexosaminidase immunolocalization and α- and β-subunit gene expression in the rat testis and epididymis

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

The beta-hexosaminidase story in Toronto: from enzyme structure to gene mutation

Biochemical Characterization of the Cys138Arg Substitution Associated with the AB Variant Form of GM2 Gangliosidosis: Evidence That Cys138 Is Required for the Recognition of the GM2 Activator/GM2 Ganglioside Complex by β-Hexosaminidase A

Biochemical consequences of mutations causing the GM2 gangliosidoses

Biochemistry and genetics of Tay-Sachs disease

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

Characterization and substrate specificity of fumarylacetoacetate fumarylhydrolase

Characterization by nuclear magnetic resonance of the concanavalin A binding oligosaccharide on the beta b chain of placental beta-hexosaminidase B: lectin binding to the separated polypeptide chains of hexosaminidases A and B

Characterization of human placental beta -hexosaminidase I sub(2). Proteolytic processing intermediates of hexosaminidase A

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

Characterization of polypeptides serologically and structurally related to hexosaminidase in cultured fibroblasts

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