Article
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Molecular and cellular biology - 1 Aug 1991
Gregory R J, Rich D P, Cheng S H, Souza D W, Paul S, Manavalan P, Anderson M P, Welsh M J, Smith A E
Abstract excerpt
One feature of the mutations thus far found to be associated with the disease cystic fibrosis (CF) is that many of them are clustered within the first nucleotide-binding domain (NBD) of the CF transmembrane conductance regulator (CFTR). We sought to discover the molecular basis for this clustering by introducing into the two NBDs of CFTR mutations either mimicking amino acid changes associated with CF or altering...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Binding Sites
- Cell Line
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Humans
- Kinetics
- Membrane Proteins