Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …

Cystic fibrosis (CF) remains the most common life-shortening hereditary disease in white
populations, with high morbidity and mortality related to chronic airway mucus obstruction …

Premature termination codons (PTCs) prevent translation of a full-length protein and trigger
nonsense-mediated mRNA decay (NMD). Nonsense suppression (also termed readthrough) …

Background A new approach in the treatment of cystic fibrosis involves improving the
function of mutant cystic fibrosis transmembrane conductance regulator (CFTR). VX-770, a …

Background VX-809, a cystic fibrosis transmembrane conductance regulator (CFTR)
modulator, has been shown to increase the cell surface density of functional F508del-CFTR …

An improved understanding of the cystic fibrosis (CF) transmembrane conductance regulator
(CFTR) protein structure and the consequences of CFTR gene mutations have allowed the …

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000
people worldwide. The clinical manifestations of the disease are caused by defects in the …

Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect
termination of translation and generation of non-functional, truncated proteins. Translational …

Ten percent of inherited diseases are caused by premature termination codon (PTC)
mutations that lead to degradation of the mRNA template and to the production of a non …

Rationale: Nonsense (premature stop codon) mutations in mRNA for the cystic fibrosis
transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) in approximately …