Article
CFTR: folding, misfolding and correcting the ΔF508 conformational defect.
Trends in molecular medicine - 1 Feb 2012
Lukacs Gergely L, Verkman A S
Abstract excerpt
Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by loss-of-function mutations of the CF transmembrane conductance regulator (CFTR), a cyclic AMP-regulated plasma membrane chloride channel. The most common mutation, deletion of phenylalanine 508 (ΔF508), impairs CFTR folding and, consequently, its biosynthetic and endocytic processing as well as chloride channel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
