Ontology highlight
ABSTRACT:
SUBMITTER: Degrugillier F
PROVIDER: S-EPMC7402320 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Degrugillier Fanny F Aissat Abdel A Prulière-Escabasse Virginie V Bizard Lucie L Simonneau Benjamin B Decrouy Xavier X Jiang Chong C Rotin Daniela D Fanen Pascale P Simon Stéphanie S
International journal of molecular sciences 20200708 14
Cystic Fibrosis is a lethal monogenic autosomal recessive disease linked to mutations in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. The most frequent mutation is the deletion of phenylalanine at position 508 of the protein. This F508del-CFTR mutation leads to misfolded protein that is detected by the quality control machinery within the endoplasmic reticulum and targeted for destruction by the proteasome. Modulating quality control proteins as molecular chaperones is a p ...[more]