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

• Main Authors: Valeria Tomati (Author), Valeria Capurro (Author), Emanuela Pesce (Author), Cristina Pastorino (Author), Elvira Sondo (Author), Mariateresa Lena (Author), Anna Borrelli (Author), Federico Cresta (Author), Stefano Pantano (Author), Francesca Collini (Author), Pietro Ripani (Author), Vito Terlizzi (Author), Cristina Fevola (Author), Stefano Costa (Author), Maria Cristina Lucanto (Author), Federico Zara (Author), Tiziano Bandiera (Author), Renata Bocciardi (Author), Carlo Castellani (Author), Luis J. V. Galietta (Author), Nicoletta Pedemonte (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: 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...