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

• मुख्य लेखकों: Aiswarya Premchandar (लेखक), Ruiji Ming (लेखक), Abed Baiad (लेखक), Dillon F. Da Fonte (लेखक), Haijin Xu (लेखक), Denis Faubert (लेखक), Guido Veit (लेखक), Gergely L. Lukacs (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2024-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...