Cystic fibrosis (CF), the most common autosomal recessive disease in Caucasians, is due to
mutations in the CFTR gene. F508del, the most frequent mutation in patients, impairs CFTR …

The major disease-causing mutation of the cystic fibrosis transmembrane conductance
regulator (CFTR) is deletion of phenylalanine 508 (ΔF508), which adversely affects …

Cystic fibrosis (CF) is characterised by impaired epithelial ion transport and is caused by
mutations in the cystic fibrosis conductance regulator protein (CFTR), a cAMP/PKA and ATP …

Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in a gene encoding
a protein called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The CFTR …

The most common mutation in cystic fibrosis, F508del, results in cystic fibrosis
transmembrane conductance regulator protein (CFTR) that is retained in the endoplasmic …

In most epithelial tissues Cl–transport relies on the cystic fibrosis transmembrane
conductance regulator (CFTR) which has dual function as a Cl–channel and as a regulator …

Cystic fibrosis (CF) mutations have complex effects on the cystic fibrosis transmembrane
conductance regulator (CFTR) protein. They disrupt its processing to and stability at the …

Background/Aims: The CFTR-Associated Ligand (CAL), a PDZ domain containing protein
with two coiled-coil domains, reduces cell surface WT CFTR through degradation in the …

Defective epithelial ion transport is the hallmark of the life-limiting genetic disease cystic
fibrosis (CF). This abnormality is caused by mutations in the cystic fibrosis transmembrane …

Cystic fibrosis (CF) is caused by mutations in the gene encoding a chloride channel called
the CF transmembrane conductance regulator (CFTR). A single mutation in this gene …