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Article

Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.

JCI insight - 8 May 2023

Yang Huiya, Brown Robert H, Wang Dan, Strauss Kevin A, Gao Guangping

Abstract excerpt

GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-function mutations in ST3GAL5. Loss of ST3GAL5 activity in humans results in systemic ganglioside deficiency and severe neurological impairment. No disease-modifying treatment is currently available. Certain recombinant adeno-associated viruses (rAAVs) can cross the blood-brain barrier to induce...

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Identifiers

PMID: 37014712
DOI: 10.1172/jci.insight.168688
PMCID: PMC10243808

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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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