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

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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Bibliographic Details
Main Authors: Jerry F. Harb, Chloe L. Christensen, Shih-Hsin Kan, Allisandra K. Rha, Perla Andrade-Heckman, Laura Pollard, Richard Steet, Jeffrey Y. Huang, Raymond Y. Wang
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: RNA/DNA editing
CRISPR-Cas9
Salla
free sialic acid storage disease
SLC17A5
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253123002354

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http://www.sciencedirect.com/science/article/pii/S2162253123002354

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