Article
A single amino acid substitution in CFTR converts ATP to an inhibitory ligand.
The Journal of general physiology - 1 Oct 2014
Lin Wen-Ying, Jih Kang-Yang, Hwang Tzyh-Chang
Abstract excerpt
Cystic fibrosis (CF), one of the most common lethal genetic diseases, is caused by loss-of-function mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a chloride channel that, when phosphorylated, is gated by ATP. The third most common pathogenic mutation, a glycine-to-aspartate mutation at position 551 or G551D, shows a significantly decreased open probability (Po)...
Topics
- Adenosine Triphosphate
- Amino Acid Substitution
- Animals
- CHO Cells
- Cricetinae
- Cricetulus
- Cyclic AMP-Dependent Protein Kinases
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA, Complementary
- Ligands
- Models, Molecular
- Mutation
- Patch-Clamp Techniques
- Protein Conformation