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Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

Human gene therapy - 1 Jul 2016

Karumuthil-Melethil Subha, Nagabhushan Kalburgi Sahana, Thompson Patrick, Tropak Michael, Kaytor Michael D, Keimel John G, Mark Brian L, Mahuran Don, Walia Jagdeep S, Gray Steven J

Abstract excerpt

GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations in the β-subunit (encoded by HEXB) lead to Sandhoff...

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Source

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Identifiers

PMID: 27197548
DOI: 10.1089/hum.2016.013
PMCID: PMC5349231

Genes

HEXA
HEXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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