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Article

Spontaneous appearance of Tay-Sachs disease in an animal model.

Molecular genetics and metabolism - 1 Jan 2000

Zeng B J, Torres P A, Viner T C, Wang Z H, Raghavan S S, Alroy J, Pastores G M, Kolodny E H

Abstract excerpt

Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of beta-hexosaminidase A (Hex A). Deficiency of Hex A in TSD is caused by a defect of the alpha-subunit resulting from mutations of the HEXA gene. To date, there is no effective treatment for TSD. Animal models of genetic diseases, similar to those known to exist in humans, are valuable and...

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Source

Identifiers

PMID: 18693054
DOI: 10.1016/j.ymgme.2008.06.010

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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