Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

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 …

More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator
(CFTR) have been described that confer a range of molecular cell biological and functional …

We recently established conditions allowing for long-term expansion of epithelial organoids
from intestine, recapitulating essential features of the in vivo tissue architecture. Here we …

The tumour suppressor p53 is the most frequently mutated gene in human cancer, with more
than half of all human tumours carrying mutations in this particular gene. Intense efforts to …

Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of …

Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on
chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas …

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 …

Background Ataluren was developed to restore functional protein production in genetic
disorders caused by nonsense mutations, which are the cause of cystic fibrosis in 10% of …

Nonsense suppression therapy encompasses approaches aimed at suppressing translation
termination at in-frame premature termination codons (PTCs, also known as nonsense …