Article
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Human mutation - 1 Apr 2005
Clain Jérôme, Lehmann-Che Jacqueline, Duguépéroux Ingrid, Arous Nicole, Girodon Emmanuelle, Legendre Marie, Goossens Michel, Edelman Aleksander, de Braekeleer Marc, Teulon Jacques, Fanen Pascale
Abstract excerpt
Cystic fibrosis (CF) is mainly caused by mutations that interfere with the biosynthetic folding of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The aim of this study was to determine the mechanism of dysfunction of a disease-causing mutation associated with variable phenotypes. In order to attain these objectives, we studied the effect of the p.L206W mutation on CFTR protein...
Topics
- Adolescent
- Adult
- Case-Control Studies
- Cell Membrane
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Electrophysiology
- Female