Article

An efficacious and safe rescue of GM3 synthase deficiency by spatially regulated rAAV-mediated ST3GAL5 delivery

2022-06-17

Abstract excerpt

<title>Abstract</title> <p>GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-function mutations in <italic>ST3GAL5.</italic> 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) are...

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Literature Corpus work: 70d2e5ef-d128-57fd-b411-83de46bb75f2
DOI: 10.21203/rs.3.rs-1731386/v1

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