Pharmacological Correction of Cystic Fibrosis: Molecular Mechanisms at the Plasma Membrane to Augment Mutant CFTR Function.

Abstract excerpt

In the late 1980s, a loss-of-function mutation in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel was identified to be the primary cause of cystic fibrosis (CF); a fatal multiple-organ disorder that mostly affects Caucasians. To date, approximately 2000 genetic mutations have been identified in the CFTR gene (http://www.genet.sickkids.on.ca/cftr/app). The most...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cell Membrane
• Share to Cystic Fibrosis
• Share to Cystic Fibrosis Transmembrane Conductance Regulator