Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues

2013 • 47,043 citations

The Metabolic Basis of Inherited Diseases

1972 • 1,762 citations

A non-AUG translational initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas

1988 • 481 citations

Translation Initiation at Non-Aug Triplets in Mammalian Cells

1989 • 363 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

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

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

1984 • 159 citations

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

1988 • 144 citations

Initiation codon mutation as a cause of alpha thalassemia.

1984 • 130 citations

Rapid extraction of high molecular weight RNA from cultured cells and granulocytes for Northern analysis

1988 • 117 citations

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

1988 • 115 citations

Hexosaminidase A deficiency in adults

1986 • 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

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

1988 • 101 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

Late onset GM2-gangliosidosis: Clinical, pathological, and biochemical studies on 8 patients

1973 • 94 citations

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

1990 • 94 citations

Mutation in GM2‐Gangliosidosis B1 Variant

1988 • 82 citations

Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

1990 • 72 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

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

1988 • 53 citations

Intermediate forms of human β-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl β-N-acetylglucosaminide 6-sulphate

1987 • 51 citations

An Initiation Codon Mutation in the ApoC-II Gene (ApoC-II Paris) of a Patient with a Deficiency of Apolipoprotein C-II

1989 • 46 citations

Six novel deleterious and three neutral mutations in the gene encoding the α-subunit of hexosaminidase A in non-Jewish individuals

1992 • 41 citations

Cloning and sequence analysis of a cDNA encoding the α-subunit of mouse β-N-acetylhexosaminidase and comparison with the human enzyme

1992 • 37 citations

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

1989 • 30 citations

Molecular and Clinical Heterogeneity of Adult G<sub>M</sub><sub>2</sub> Gangliosidosis

1991 • 22 citations

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

1992 • 16 citations

Molecular genetics of beta-hexosaminidase deficiencies.

1991 • 8 citations