Ontology highlight
ABSTRACT:
SUBMITTER: Fiore M
PROVIDER: S-EPMC7242338 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Scientific reports 20200521 1
One of the most common mutations in Cystic Fibrosis (CF) patients is the deletion of the amino acid phenylalanine at position 508. This mutation causes both the protein trafficking defect and an early degradation. Over time, small molecules, called correctors, capable of increasing the amount of mutated channel in the plasma membrane and causing an increase in its transport activity have been developed. This study shows that incubating in vitro cells permanently transfected with the mutated chan ...[more]