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

Abstract excerpt

Introduction: Cystic 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 mutation characterized by a severe CFTR folding and trafficking defect. Methods: models based on patient-derived human...

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