Inflammatory stimuli and the rescue of disease-causing CFTR nonsense variants

Extract In the past decade or so, treatment of cystic fibrosis (CF) has changed enormously due to the introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulators. While first covering a small percentage of individuals bearing specific disease-causing variants that affect gating and conductance of CFTR [1], the use of these types of therapy was later expanded with the approval of a combination including a corrector (that rescues folding and thus endoplasmic reticulum retention) and a potentiator (that rescues channel gating and conductance) that target the most common variant, F508del [2].