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The U UGA C sequence provides a favorable context to ELX-02 induced CFTR readthrough

Published:November 15, 2022DOI:https://doi.org/10.1016/j.jcf.2022.10.010

      Highlights

      • Treatment with CFTR modulators is ineffective for patients carrying nonsense mutations introducing a premature termination codon (PTC).
      • The best-characterized drugs active against PTCs are aminoglycoside antibiotics, including ELX-02, previously referred to as NB-124.
      • ELX-02 induced a significant enhancement of mRNA level and protein function of S1196X and S466X CFTR variants.
      • The S1196X and S466X CFTR variants provide a favorable "U UGA C" genetic context for stabilization of CFTR transcript and their readthrough by ELX-02.
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