Ontology highlight
ABSTRACT:
SUBMITTER: de Wilde G
PROVIDER: S-EPMC6521598 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Frontiers in pharmacology 20190509
The deletion of phenylalanine at position 508 (F508del) in cystic fibrosis transmembrane conductance regulator (CFTR) causes a severe defect in folding and trafficking of the chloride channel resulting in its absence at the plasma membrane of epithelial cells leading to cystic fibrosis. Progress in the understanding of the disease increased over the past decades and led to the awareness that combinations of mechanistically different CFTR modulators are required to obtain meaningful clinical bene ...[more]