Ontology highlight
ABSTRACT:
SUBMITTER: van Willigen M
PROVIDER: S-EPMC6339265 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
van Willigen Marcel M Vonk Annelotte M AM Yeoh Hui Ying HY Kruisselbrink Evelien E Kleizen Bertrand B van der Ent Cornelis K CK Egmond Maarten R MR de Jonge Hugo R HR Braakman Ineke I Beekman Jeffrey M JM van der Sluijs Peter P
Life science alliance 20190118 1
Cystic fibrosis is caused by mutations in the <i>CFTR</i> gene, which are subdivided into six classes. Mutants of classes III and IV reach the cell surface but have limited function. Most class-III and class-IV mutants respond well to the recently approved potentiator VX-770, which opens the channel. We here revisited function and folding of some class-IV mutants and discovered that R347P is the only one that leads to major defects in folding. By this criterion and by its functional response to ...[more]