[HTML][HTML] Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a …
PDW Eckford, C Li, M Ramjeesingh, CE Bear - Journal of Biological …, 2012 - ASBMB
The cystic fibrosis transmembrane conductance regulator (CFTR) acts as a channel on the
apical membrane of epithelia. Disease-causing mutations in the cystic fibrosis gene can
lead to CFTR protein misfolding as in the case of the F508del mutation and/or channel
dysfunction. Recently, a small molecule, VX-770 (ivacaftor), has shown efficacy in restoring
lung function in patients bearing the G551D mutation, and this has been linked to repair of
its channel gating defect. However, these studies did not reveal the mechanism of action of …
apical membrane of epithelia. Disease-causing mutations in the cystic fibrosis gene can
lead to CFTR protein misfolding as in the case of the F508del mutation and/or channel
dysfunction. Recently, a small molecule, VX-770 (ivacaftor), has shown efficacy in restoring
lung function in patients bearing the G551D mutation, and this has been linked to repair of
its channel gating defect. However, these studies did not reveal the mechanism of action of …