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Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis.

par Sermet-Gaudelus, Isabelle;Boeck, Kris De;Casimir, Georges ;Vermeulen, François ;Leal, Teresinha;Mogenet, Agnès;Roussel, Delphine;Fritsch, Janine;Hanssens, Laurence ;Hirawat, Samit;Miller, Nilsen L;Constantine, Scott;Reha, Allen;Ajayi, Temitayo;Elfring, Gary L;Miller, Langdon L
Référence American journal of respiratory and critical care medicine, 182, 10, page (1262-1272)
Publication Publié, 2010-11

Article révisé par les pairs

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Résumé :

Nonsense (premature stop codon) mutations in mRNA for the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) in approximately 10% of patients. Ataluren (PTC124) is an oral drug that permits ribosomes to readthrough premature stop codons in mRNA to produce functional protein.