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

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Rapid and efficient site-specific mutagenesis without phenotypic selection.

1985 • 7,573 citations

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1972 • 6,922 citations

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1987 • 5,745 citations

[19] Rapid and efficient site-specific mutagenesis without phenotypic selection

1987 • 5,413 citations

A simple and very efficient method for generating cDNA libraries

1983 • 4,606 citations

SV40-transformed simian cells support the replication of early SV40 mutants

1981 • 2,564 citations

Efficient isolation of genes by using antibody probes.

1983 • 2,065 citations

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

1980 • 809 citations

The human cation-independent mannose 6-phosphate receptor. Cloning and sequence of the full-length cDNA and expression of functional receptor in COS cells.

1988 • 244 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

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

1985 • 162 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

Adult (Chronic) GM2 Gangliosidosis

1976 • 137 citations

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

1987 • 127 citations

Hexosaminidase A deficiency in adults

1986 • 115 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

Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype

1982 • 105 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

Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

1973 • 97 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

Synthesis of and its use in classification of GM2 gangliosidosis genotypes

1984 • 82 citations

Motor neuron disease and adult hexosaminidase a deficiency in two families: Evidence for multisystem degeneration

1985 • 82 citations

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

1983 • 80 citations

cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.

1984 • 64 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

Adult GM ₂ gangliosidosis in association with Tay‐Sachs disease

1981 • 52 citations

Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.

1982 • 27 citations

GM2-gangliosidosis Hexosaminidase mutations not of the Tay-Sachs type procedure unusual clinical variants

1983 • 24 citations

Hexosaminidase a deficient adults: Presence of α chain precursor in cultured skin fibroblasts

1984 • 15 citations

Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis.

1985 • 6 citations