Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase

LYSOSOMAL ENZYMES AND THEIR RECEPTORS

1986 • 915 citations

Expression of wild-type and mutant forms of influenza hemagglutinin: The role of folding in intracellular transport

1986 • 879 citations

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

1980 • 809 citations

Oligomerization is essential for transport of vesicular stomatitis viral glycoprotein to the cell surface

1986 • 417 citations

Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. A rate-limiting step in protein maturation and secretion.

1988 • 327 citations

Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders

1983 • 273 citations

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

1988 • 226 citations

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

1985 • 223 citations

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.

1986 • 176 citations

Lysosomal Enzyme Precursors in Human Fibroblasts. Activation of Cathepsin D Precursor in vitro and Activity of beta-Hexosaminidase A Precursor towards Ganglioside GM2

1982 • 163 citations

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.

1985 • 162 citations

Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.

1984 • 159 citations

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.

1987 • 148 citations

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1988 • 144 citations

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

1988 • 143 citations

The Mutations in Ashkenazi Jews with Adult G _M2 Gangliosidosis, the Adult Form of Tay-Sachs Disease

1989 • 142 citations

Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

1987 • 127 citations

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

1988 • 115 citations

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.

1982 • 113 citations

What maintains the frequencies of human genetic diseases?

1987 • 108 citations

Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.

1981 • 107 citations

Beta O-39 thalassemia gene: a premature termination codon causes beta- mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1984 • 106 citations

Different Mutations in Ashkenazi Jewish and Non-Jewish French Canadians with Tay-Sachs Disease

1986 • 105 citations

Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon

1984 • 102 citations

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

1989 • 99 citations

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

1986 • 88 citations

A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1988 • 85 citations

Mutation in GM2‐Gangliosidosis B1 Variant

1988 • 82 citations

Beta O-39 thalassemia gene: a premature termination codon causes beta- mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1984 • 82 citations

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

1988 • 79 citations

Biosynthesis of the mannose 6-phosphate recognition marker in transport-impaired mouse lymphoma cells. Demonstration of a two-step phosphorylation.

1988 • 65 citations

Genetic cause of a Juvenile Form of Sandhoff Disease

1989 • 63 citations

Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.

1988 • 63 citations

Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.

1984 • 62 citations

Molecular cloning of the cDNA which encodes beta-N-acetylhexosaminidase A from Dictyostelium discoideum. Complete amino acid sequence and homology with the human enzyme.

1988 • 57 citations

Analysis of the glycosylation and phosphorylation of the lysosomal enzyme, β-hexosaminidase B, by site-directed mutagenesis

1989 • 56 citations

Cloning and sequence analysis of a cDNA encoding the β‐subunit of mouse β‐hexosaminidase

1988 • 53 citations

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.

1988 • 49 citations

A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis Variant

1988 • 47 citations

Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.

1988 • 42 citations

Proteolytic Processing of the β-Subunit of the Lysosomal Enzyme, β-Hexosaminidase, in Normal Human Fibroblasts

1989 • 39 citations

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

1988 • 38 citations

GM2-gangliosidosis B1 variant: A wide geographic and ethnic distribution of the specific β-hexosaminidase α chain mutation originally identified in a puerto rican patient

1988 • 36 citations

Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation.

1988 • 27 citations

Sulfated oligosaccharides in human lysosomal enzymes

1987 • 23 citations

Localization of the pro‐sequence within the total deduced primary structure of human β‐hexosaminidase B

1988 • 20 citations

Population Dynamics of Tay-Sachs Disease. II. What Confers the Selective Advantage Upon the Jewish Heterozygote?

1972 • 9 citations