Readthrough-induced misincorporated amino acid ratios guide mutant-specific therapeutic approaches for two CFTR nonsense mutations

• Main Authors: Aiswarya Premchandar (Author), Ruiji Ming (Author), Abed Baiad (Author), Dillon F. Da Fonte (Author), Haijin Xu (Author), Denis Faubert (Author), Guido Veit (Author), Gergely L. Lukacs (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2024-04-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Premature termination codons (PTCs) represent ∼9% of CF mutations that typically cause severe expression defects of the CFTR anion channel. Despite the prevalence of PTCs as the...