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Article

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

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 1995

Cohen-Tannoudji M, Marchand P, Akli S, Sheardown S A, Puech J P, Kress C, Gressens P, Nassogne M C, Beccari T, Muggleton-Harris A L

Abstract excerpt

Tay-Sachs disease is an autosomal recessive lysosomal storage disease caused by beta-hexosaminidase A deficiency and leads to death in early childhood. The disease results from mutations in the HEXA gene, which codes for the alpha chain of beta-hexosaminidase. The castastrophic neurodegenerative...

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Identifiers

PMID: 8747922
DOI: 10.1007/BF00292433

Genes

HEXA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8747922-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease.PMID 8747922Read ↗

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