Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of the lysosome, leading to cellular dysfunction and neurological impairment, with the m...

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Detalles Bibliográficos
Autores principales: Harb, Jerry F., Christensen, Chloe L., Kan, Shih-Hsin, Rha, Allisandra K., Andrade-Heckman, Perla, Pollard, Laura, Steet, Richard, Huang, Jeffrey Y., Wang, Raymond Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506058/
https://www.ncbi.nlm.nih.gov/pubmed/37727271
http://dx.doi.org/10.1016/j.omtn.2023.08.024

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506058/
https://www.ncbi.nlm.nih.gov/pubmed/37727271
http://dx.doi.org/10.1016/j.omtn.2023.08.024

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