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Article

Biochemistry and genetics of Tay-Sachs disease.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Aug 1991

Gravel R A, Triggs-Raine B L, Mahuran D J

Abstract excerpt

Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. It results from mutations of the HEXA gene encoding the alpha subunit of beta-hexosaminidase, producing a destructive ganglioside accumulation in lysosomes, principally in neurons. With the determination of the protein sequence of the alpha and beta subunits, deduced from cDNA sequences, the complex pathway of subcellular and...

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Identifiers

PMID: 1834320
DOI: 10.1017/s0317167100032583

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.

Related research

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Biochemistry and genetics of Tay-Sachs disease.PMID 1834320Read ↗

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The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.Semantic proximity Read ↗

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

[Tay-Sachs disease].Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.Semantic proximity Read ↗

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.Semantic proximity Read ↗

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

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