Article
Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.
International journal of molecular sciences - 8 Jul 2020
Degrugillier Fanny, Aissat Abdel, Prulière-Escabasse Virginie, Bizard Lucie, Simonneau Benjamin, Decrouy Xavier, Jiang Chong, Rotin Daniela, Fanen Pascale, Simon Stéphanie
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
