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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2023
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| Materias: | |
| 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 |