Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells

• Váldodahkkit: Chloe L. Christensen (Dahkki), Shih-Hsin Kan (Dahkki), Perla Andrade-Heckman (Dahkki), Allisandra K. Rha (Dahkki), Jerry F. Harb (Dahkki), Raymond Y. Wang (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Elsevier, 2024-06-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Infantile-onset Pompe disease (IOPD) results from pathogenic variants in the GAA gene, which encodes acid α-glucosidase. The correction of pathogenic variants through genome editing may be a valuable one-time therapy for PD and improve upon the current standard of care. We performed adenine base edi...