Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Altering the Genome by Homologous Recombination

1989 • 2,021 citations

[10] Gangliosides: Structure, isolation, and analysis

1982 • 705 citations

II. ULTRASTRUCTURE OF THE CEREBRUM*

1963 • 276 citations

Response to 30 generations of selection for open-field activity in laboratory mice

1978 • 264 citations

Altering Genes in Animals by Gene Targeting

1992 • 224 citations

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

1985 • 223 citations

GM ₂ Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

1977 • 160 citations

Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats.

1985 • 117 citations

Gene Therapy for Neurologic Disease

1993 • 113 citations

Subtype-selective cholecystokinin receptor antagonists block cholecystokinin modulation of dopamine-mediated behaviors in the rat mesolimbic pathway

1992 • 94 citations

Effects of concurrent manipulations of cholinergic and noradrenergic function on learning and retention in mice

1989 • 81 citations

Ultrastructural studies of eight cases of fetal Tay-Sachs disease.

1974 • 77 citations

Neuronal lysosomal enzyme replacement using fragment C of tetanus toxin.

1992 • 66 citations

Structure and Expression of the Mouse β-Hexosaminidase Genes, Hexa and Hexb

1994 • 53 citations

Biochemical Basis of Late-Onset Neurolipidoses

1991 • 53 citations

Neuropathology of Late Onset Gangliosidoses

1991 • 44 citations

Activating Proteins for Ganglioside GM₂Degradation by β-Hexosaminidase Isoenzymes in Tissue Extracts from Different Species

1983 • 37 citations

Identification of β-N-acetylhexosaminidase A in mouse tissues with the fluorigenic substrate 4-methylumbelliferyl-β-N-acetylglucosamine 6-sulphate

1988 • 29 citations

Prenatal Diagnosis of GM2 Gangliosidosis with High Residual Hexosaminidase A Activity (Variant B1; Pseudo AB Variant)

1985 • 16 citations