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

• Main Authors: Jerry F. Harb (Author), Chloe L. Christensen (Author), Shih-Hsin Kan (Author), Allisandra K. Rha (Author), Perla Andrade-Heckman (Author), Laura Pollard (Author), Richard Steet (Author), Jeffrey Y. Huang (Author), Raymond Y. Wang (Author)
• Format: Book
• Published: Elsevier, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...