Elexacaftor co-potentiates the activity of F508del and gating mutants of CFTR

Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) gene, which lead to multiorgan pathology with lung disease being responsible for the majority of morbidity and mortality in CF [1]. More than 2000 mutations with varying disease liability have been identified that can be classified according to their cellular phenotype into expression (class I), folding (class II), gating (class III), conductance (class IV), quantity (class V), peripheral stability defect (class VI) associated mutants or combinations thereof [2].

Source: Journal of Cystic Fibrosis - March 25, 2021 Category: Respiratory Medicine Authors: Guido Veit, Christian Vaccarin, Gergely L. Lukacs Tags: Short Communication Source Type: research