Concepedia

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

Michel Cohen‐Tannoudji, P. Marchand, Saïd Akli, S. A. Sheardown, J. P. Puech, Chantal Kress, Pierre Gressèns, Marie‐Cécile Nassogne, Tommaso Beccari, A. L. Muggleton-Harris,

Mammalian Genome · 1995 · 67 citations · 36 references

DOI

Concepts

References

36

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

John M. Chirgwin, Alan Przybyla, Raymond J. MacDonald et al. · Biochemistry · 1979 · 22.2K citations

, , +9

The Metabolic Basis of Inherited Diseases

R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations

, , +15

Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

Suzanne L. Mansour, Kirk R. Thomas, Mario R. Capecchi · Nature · 1988 · 1.7K citations

, , +15

Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

P. Leinekugel, Sylvie Michel, Ernst Conzelmann et al. · Human Genetics · 1992 · 329 citations

, , +15

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

Shoji Yamanaka, Mark D. Johnson, Alexander Grinberg et al. · Proceedings of the National Academy of Sciences · 1994 · 213 citations

, , +17