A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease.

Abstract excerpt

The effects of the mild cystic fibrosis (CF) mutation P574H were analysed and compared with those of three severe ones (delta I507, delta F508 and R560T). Immunochemical and functional analyses indicate that the rank order of CFTR expression at the cell surface is: wild type CFTR > P574H >> delta F508 >> R560T approximately 0. Patch-clamp analysis indicates that the open probability of P574H Cl- channels is...

Topics

• Animals
• Chloride Channels
• Chlorocebus aethiops
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Gene Expression
• Glycosylation
• Humans
• Ion Channel Gating
• Membrane Proteins