Article
Pharmacological rescue of the mutant cystic fibrosis transmembrane conductance regulator (CFTR) detected by use of a novel fluorescence platform.
Molecular medicine (Cambridge, Mass.) - 9 May 2012
Holleran John P, Glover Matthew L, Peters Kathryn W, Bertrand Carol A, Watkins Simon C, Jarvik Jonathan W, Frizzell Raymond A
Abstract excerpt
Numerous human diseases arise because of defects in protein folding, leading to their degradation in the endoplasmic reticulum. Among them is cystic fibrosis (CF), caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR ), an epithelial anion channel. The most common mutation, F508del, disrupts CFTR folding, which blocks its trafficking to the plasma membrane. We developed a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.