Cystic Fibrosis
Kerem E. et al (2014) Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med. 2014 May 15. pii: S2213-2600(14)70100-6.
Johansson J, Vezzalini M, Verzè G, Caldrer S, Bolognin S, Buffelli M, Bellisola G, Tridello G, Assael BM, Melotti P, Sorio C. Detection of CFTR protein in human leukocytes by flow cytometry. Cytometry A. 2014 Jul;85(7):611-20.*
Lentini L, Melfi R, Di Leonardo A, Spinello A, Barone G, Pace A, Palumbo Piccionello A, Pibiri I. Toward a rationale for the PTC124 (Ataluren) promoted readthrough of premature stop codons: a computational approach and GFP-reporter cell-based assay. Mol Pharm. 2014 Mar 3;11(3):653-64.*
Gonzalez-Hilarion S, Beghyn T, Jia J, Debreuck N, Berte G, Mamchaoui K, Mouly V, Gruenert DC, Déprez B, Lejeune F. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis. 2012 Aug 31;7:58*
Wilschanski M. et al (2011) Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J. 2011 Jul;38(1):59-69.
Sermet-Gaudelus I. et al (2010) Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis Am J Respir Crit Care Med. Nov 15;182(10):1262-72.
Eitan Kerem et al. (2008). Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. The Lancet, 372:719-27.
Ming Du, Xiaoli Liu, Ellen M. Welch, Samit Hirawat, Stuart W. Peltz, and David M. Bedwell. (2008). PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proceedings of the National Academy of Sciences, 105(6):2064-2069.
Long QT syndrome
Yu H, Liu X, Huang J, Zhang Y, Hu R, Pu J. Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome. Int J Mol Med. 2014 Mar;33(3):729-35.*
*Independent investigators