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

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 curre...

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Detalles Bibliográficos
Autores principales: Yang, Huiya, Brown, Robert H., Wang, Dan, Strauss, Kevin A., Gao, Guangping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243808/
https://www.ncbi.nlm.nih.gov/pubmed/37014712
http://dx.doi.org/10.1172/jci.insight.168688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243808/
https://www.ncbi.nlm.nih.gov/pubmed/37014712
http://dx.doi.org/10.1172/jci.insight.168688

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