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Article

Genetics and Therapies for GM2 Gangliosidosis.

Current gene therapy - 1 Jan 2018

Cachon-Gonzalez Maria Begona, Zaccariotto Eva, Cox Timothy Martin

Abstract excerpt

Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of lysosomal storage diseases. Inherited as a classical autosomal...

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Identifiers

PMID: 29618308
DOI: 10.2174/1566523218666180404162622
PMCID: PMC6040173

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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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