Article
Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.
Biochemistry - 30 Sept 1997
Seibert F S, Jia Y, Mathews C J, Hanrahan J W, Riordan J R, Loo T W, Clarke D M
Abstract excerpt
Since little is known about the contribution to function of the N-terminal cytoplasmic loops (CL1, residues 139-194; CL2, residues 242-307) of cystic fibrosis transmembrane conductance regulator (CFTR), all nine point mutations identified in CLs 1 and 2 from patients with cystic fibrosis were rec...
Topics
- Adenylyl Imidodiphosphate
- Animals
- CHO Cells
- Cricetinae
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Cytoplasm
- Humans
- Iodides
- Ion Channel Gating
- Ion Channels
- Mutation
- Patch-Clamp Techniques
- Protein Folding