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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Article info
Publication history
Published online: November 15, 2022
Accepted:
October 24,
2022
Received in revised form:
September 22,
2022
Received:
July 2,
2022
Publication stage
In Press Corrected ProofIdentification
Copyright
© 2022 Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society.
