Introduction Cystic fibrosis (CF) is a life-threatening inherited disease caused by mutations
in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, an …

The cystic fibrosis (CF) lung disease is due to the lack/dysfunction of the CF Transmembrane
Conductance Regulator (CFTR), a chloride channel expressed by epithelial cells as the …

Cystic fibrosis (CF) is a life-shortening monogenic disease caused by mutations in the gene
encoding the CF transmembrane conductance regulator (CFTR) protein, an anion channel …

Introduction Cystic fibrosis (CF), a potentially fatal genetic disease, is caused by loss-of-
function mutations in the gene encoding for the CFTR chloride/bicarbonate channel …

Rare diseases are most often caused by inherited genetic disorders that, after translation,
will result in a protein with altered function. Decreased protein stability is the most frequent …

The most prevalent cystic fibrosis (CF)-causing mutation–F508del–impairs the folding of
CFTR protein, resulting in its defective trafficking and premature degradation. Small …

The combination therapies ORKAMBITM and TRIKAFTATM are approved for people who
have the F508del mutation on at least one allele. In this study we examine the effects of …

Cystic fibrosis (CF) is a rare genetic disease caused by mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR), an epithelial anion channel expressed in …

The deletion of a phenylalanine at position 508 (p. Phe508del) in the CFTR anion channel is
the most prevalent variant in people with Cystic Fibrosis (CF). This variant impairs folding …

The R334W (c. 1000C> T, p. Arg334Trp) is a rare cystic fibrosis (CF)-causing mutation for
which no causal therapy is currently approved. This mutation leads to a significant reduction …