Figure 7.

CFTR with premature termination codon (PTC) mutations: defects and therapeutic strategies. Left: PTC CFTR mutations present two specific defects: the mRNA is often degraded via nonsense mediated mRNA decay (NMD), and the resulting protein is truncated. Right: To overcome these challenges, NMD inhibitors (NMDi) and Translational Readthrough Inducing Drugs (TRIDs) are investigated. As TRID treatment does not necessarily result in incorporation of the native amino-acid, these treatments can further be complemented with CFTR modulators.