Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators

• मुख्य लेखकों: Valeria Tomati (लेखक), Valeria Capurro (लेखक), Emanuela Pesce (लेखक), Cristina Pastorino (लेखक), Elvira Sondo (लेखक), Mariateresa Lena (लेखक), Anna Borrelli (लेखक), Federico Cresta (लेखक), Stefano Pantano (लेखक), Francesca Collini (लेखक), Pietro Ripani (लेखक), Vito Terlizzi (लेखक), Cristina Fevola (लेखक), Stefano Costa (लेखक), Maria Cristina Lucanto (लेखक), Federico Zara (लेखक), Tiziano Bandiera (लेखक), Renata Bocciardi (लेखक), Carlo Castellani (लेखक), Luis J. V. Galietta (लेखक), Nicoletta Pedemonte (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2024-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

IntroductionCystic Fibrosis (CF) is a genetic disease due to loss-of-function mutations of the CFTR channel. F508del is the most frequent mutation (70% of alleles in Italy), while other mutations have much lower frequency. Among them, G85E (0.4% frequency globally, 1.13% in Italy) emerges as a mutat...