Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

• Egile Nagusiak: Astrid Brull (Egilea), Apurva Sarathy (Egilea), Véronique Bolduc (Egilea), Grace S. Chen (Egilea), Riley M. McCarty (Egilea), Carsten G. Bönnemann (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2024-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in COL6A1, COL6A2, and COL6A3 genes, encoding the collagen α1, α2, and α3 (VI) chains. They act by incor...