Elexacaftor Mediates the Rescue of F508del CFTR Functional Expression Interacting with MSD2.

ABSTRACT: Cystic fibrosis (CF) is one of the most frequent lethal autosomal recessive diseases affecting the Caucasian population. It is caused by loss of function variants of the cystic fibrosis transmembrane conductance regulator (CFTR), a membrane protein located on the apical side of epithelial cells. The most prevalent CF-causing mutation, the deletion of phenylalanine at position 508 (F508del), is characterized by folding and trafficking defects, resulting in the decreased functional expression of the protein on the plasma membrane. Two classes of small-molecule modulators, termed potentiators and correctors, respectively, have been developed to rescue either the gating or the cellular processing of defective F508del CFTR. Kaftrio, a next-generation triple-combination drug, consisting of the p

SUBMITTER: Bongiorno R 

PROVIDER: S-EPMC10454486 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature