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

•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 e...

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Published in:Journal of cystic fibrosis 2023-05, Vol.22 (3), p.560-563
Main Authors: Pranke, Iwona M., Varilh, Jessica, Hatton, Aurélie, Faucon, Caroline, Girodon, Emmanuelle, Dreano, Elise, Chevalier, Benoit, Karri, Sabrina, Reix, Philippe, Durieu, Isabelle, Bidou, Laure, Namy, Olivier, Taulan, Magali, Hinzpeter, Alexandre, Sermet-Gaudelus, Isabelle
Format: Article
Language:English
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Life Sciences
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Summary:•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.
ISSN:1569-1993
1873-5010
DOI:10.1016/j.jcf.2022.10.010