Ataluren Publications

Peltz, Stuart. et al (2013) Ataluren as an agent for Therapeutic Nonsense Suppression. Annu. Rev. Med. 2013. 64:407–25

Samit Hirawat et al. (2007). Safety, Tolerability, and Pharmacokinetics of PTC124, a Nonaminoglycoside Nonsense Mutation Suppressor, Following Single- and Multiple-Dose Administration to Healthy Male and Female Adult Volunteers. Journal of Clinical Pharmacology, 47(4):430-444.

Ellen M. Welch et al. (2007). PTC124 targets genetic disorders caused by nonsense mutations. Nature, 447:87-91.

DMD
Li M, Andersson-Lendahl M, Sejersen T, Arner A. Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment. FASEB J. 2014 Apr;28(4):1593-9.*

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014 Oct;50(4):477-87.

Finkel RS. Et al (2013) Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One. 2013 Dec 11;8(12):e81302.

Kayali R, Ku JM, Khitrov G, Jung ME, Prikhodko O, Bertoni C. Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy. Hum Mol Genet. 2012 Sep 15;21(18):4007-20.*

Miyoshi myopathy
Wang B, Yang Z, Brisson BK, Feng H, Zhang Z, Welch EM, Peltz SW, Barton ER, Brown RH Jr, Sweeney HL. Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. J Appl Physiol (1985). 2010 Sep;109(3):901-5.

*Independent investigators

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

Infantile Neuronal Ceroid Lipofuscinoses (INCL)
Miller JN, Chan CH, Pearce DA. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Jul 1;22(13):2723-34.*

Sarkar C, Zhang Z, Mukherjee AB. Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. Mol Genet Metab. 2011 Nov;104(3):338-45.*

Late Infantile Ceroid Lipofuscinoses (LINCL) (Yu 2013)
Miller JN, Chan CH, Pearce DA. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Jul 1;22(13):2723-34.*

Ataxia telangiectasia
Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA. A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Mol Ther. 2013 Sep;21(9):1653-60.*

Usher syndrome (USCH1C)
Goldmann T, Overlack N, Möller F, Belakhov V, van Wyk M, Baasov T, Wolfrum U, Nagel-Wolfrum K. A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation. EMBO Mol Med. 2012 Nov;4(11):1186-99.*

Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K. PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. Hum Gene Ther. 2011 May;22(5):537-47.*

*Independent investigators

Pseudoxanthoma elasticum
Zhou Y, Jiang Q, Takahagi S, Shao C, Uitto J. Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum. J Invest Dermatol. 2013 Dec;133(12):2672-7.*

Xeroderma pigmentosum
Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH. Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19483-8.*

*Independent investigators

Aniridia
Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest. 2014 Jan 2;124(1):111-6.*

Retinitis Pigmentosa
Schwartz N. Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Human Molecular Genetics. 2014 Oct 17

*Independent investigators

Heritable pulmonary arterial hypertension
Drake KM, Dunmore BJ, McNelly LN, Morrell NW, Aldred MA. Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension. Am J Respir Cell Mol Biol. 2013 Sep;49(3):403-9.*

*Independent investigators

Carnitine palmitoyltransferase 1A Deficiency
Tan L, Narayan SB, Chen J, Meyers GD, Bennett MJ. PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis. 2011 Apr;34(2):443-7.*

Methylmalonic aciduria (MMA)
Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL. Treatment of a methylmalonyl-CoA mutase stop codon mutation. Biochem Biophys Res Commun. 2012 Nov 2;427(4):753-7.*

Propionic acidemia (PA)
Sánchez-Alcudia R, Pérez B, Ugarte M, Desviat LR. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. Hum Mutat. 2012 Jun;33(6):973-80.*

Maroteaux-Lamy syndrome (MPS VI)
Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis. 2013 Mar;36(2):363-71.*

*Independent investigators

GFP
Shen Q, Guo P, Chai B. pDsRed-EGFPmtag-, an effective dual fluorescent reporter system for cell-based screens of premature termination codon. Cytotechnology. 2014 Jun 17.*

*Independent investigators