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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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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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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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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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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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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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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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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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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

The Journal of biological chemistry, 1986-06, Vol.261 (18), p.8407-8413

1986

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Isolation of cDNA Clones Coding for the β Subunit of Human β -hexosaminidase

Proceedings of the National Academy of Sciences - PNAS, 1985-02, Vol.82 (4), p.1184-1188

1985

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Characterization of the human HEXB gene encoding lysosomal β-hexosaminidase

Genomics (San Diego, Calif.), 1988-11, Vol.3 (4), p.279-286

1988

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Identification of an Active Acidic Residue in the Catalytic Site of β-Hexosaminidase

Biochemistry (Easton), 1996-06, Vol.35 (23), p.7599-7607

1996

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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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Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase

The Journal of biological chemistry, 1990-12, Vol.265 (34), p.20799-20806

1990

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Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis)

The Journal of biological chemistry, 1986-09, Vol.261 (27), p.12680-12685

1986

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A single site in human β-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside

Biochimica et biophysica acta, 2003-01, Vol.1637 (1), p.113-118

2003

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Identification of Functional Domains within the α and β Subunits of β-Hexosaminidase A through the Expression of α−β Fusion Proteins

Biochemistry (Easton), 1996-08, Vol.35 (33), p.10894-10903

1996

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Proteolytic processing of the pro beta chain of beta-hexosaminidase occurs at basic residues contained within an exposed disulfide loop structure

Biochemistry and cell biology, 1993-07, Vol.71 (7-8), p.340-347

1993

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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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II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency

Journal of andrology, 1999-11, Vol.20 (6), p.803-824

1999

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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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Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human .beta.-hexosaminidase

Biochemistry (Easton), 1988-07, Vol.27 (14), p.5216-5226

1988

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Identification of the 6-Sulfate Binding Site Unique to α-Subunit-Containing Isozymes of Human β-Hexosaminidase

Biochemistry (Easton), 2001-05, Vol.40 (18), p.5440-5446

2001

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Biochemical consequences of mutations causing the GM2 gangliosidoses

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

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

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

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

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

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

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 β Subunit of Human β -hexosaminidase

Characterization of the human HEXB gene encoding lysosomal β-hexosaminidase

Identification of an Active Acidic Residue in the Catalytic Site of β-Hexosaminidase

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

Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis)

A single site in human β-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside

Identification of Functional Domains within the α and β Subunits of β-Hexosaminidase A through the Expression of α−β Fusion Proteins

Proteolytic processing of the pro beta chain of beta-hexosaminidase occurs at basic residues contained within an exposed disulfide loop structure

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

II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency

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

Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human .beta.-hexosaminidase

Identification of the 6-Sulfate Binding Site Unique to α-Subunit-Containing Isozymes of Human β-Hexosaminidase

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