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

• Main Authors: Chloe L. Christensen (Author), Shih-Hsin Kan (Author), Perla Andrade-Heckman (Author), Allisandra K. Rha (Author), Jerry F. Harb (Author), Raymond Y. Wang (Author)
• Format: Book
• Published: Elsevier, 2024-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...