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Year Number of Results
2007 2
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60 results

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Page 1
PTC124 targets genetic disorders caused by nonsense mutations.
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick J, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL. Welch EM, et al. Nature. 2007 May 3;447(7140):87-91. doi: 10.1038/nature05756. Epub 2007 Apr 22. Nature. 2007. PMID: 17450125
PTC124 was well tolerated in animals at plasma exposures substantially in excess of those required for nonsense suppression. The selectivity of PTC124 for premature termination codons, its well characterized activity profile, oral bioavailability and pharmacological …
PTC124 was well tolerated in animals at plasma exposures substantially in excess of those required for nonsense suppression. The sele …
Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
Lersch R, Jannadi R, Grosse L, Wagner M, Schneider MF, von Stülpnagel C, Heinen F, Potschka H, Borggraefe I. Lersch R, et al. Neuroscientist. 2023 Dec;29(6):732-750. doi: 10.1177/10738584221088244. Epub 2022 Apr 13. Neuroscientist. 2023. PMID: 35414300 Free PMC article. Review.
Drug-repurposing approaches for SCN1A-related Dravet syndrome are currently under investigation (i.e., lorcaserin, clemizole, and ataluren). New therapeutic concepts also arise from the field of precision medicine by upregulating functional SCN1A or by activating Na(v)1.1. …
Drug-repurposing approaches for SCN1A-related Dravet syndrome are currently under investigation (i.e., lorcaserin, clemizole, and atalure …
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Landfeldt E, Alemán A, Abner S, Zhang R, Werner C, Tomazos I, Ferizovic N, Lochmüller H, Kirschner J. Landfeldt E, et al. J Neuromuscul Dis. 2024;11(3):579-612. doi: 10.3233/JND-230220. J Neuromuscul Dis. 2024. PMID: 38669554 Free PMC article.
Specific single-nucleotide polymorphisms in CD40 gene rs1883832, LTBP4 gene rs10880, SPP1 gene rs2835709 and rs11730582, and TCTEX1D1 gene rs1060575 (n = 7 studies), as well as race/ethnicity and level of family/patient deprivation (n = 3 studies), were associated with loss of am …
Specific single-nucleotide polymorphisms in CD40 gene rs1883832, LTBP4 gene rs10880, SPP1 gene rs2835709 and rs11730582, and TCTEX1D1 gene r …
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.
Mercuri E, Osorio AN, Muntoni F, Buccella F, Desguerre I, Kirschner J, Tulinius M, de Resende MBD, Morgenroth LP, Gordish-Dressman H, Johnson S, Kristensen A, Werner C, Trifillis P, Henricson EK, McDonald CM; STRIDE and CINRG DNHS investigators. Mercuri E, et al. J Neurol. 2023 Aug;270(8):3896-3913. doi: 10.1007/s00415-023-11687-1. Epub 2023 Apr 28. J Neurol. 2023. PMID: 37115359 Free PMC article.
Mean (standard deviation [SD]) ages at first symptoms and at genetic diagnosis were 2.9 (1.7) years and 4.5 (3.7) years, respectively. Mean (SD) duration of ataluren exposure was 1671 (56.8) days. Ataluren had a favorable safety profile; most treatment-emerge …
Mean (standard deviation [SD]) ages at first symptoms and at genetic diagnosis were 2.9 (1.7) years and 4.5 (3.7) years, respectively …
Ataluren: first global approval.
Ryan NJ. Ryan NJ. Drugs. 2014 Sep;74(14):1709-14. doi: 10.1007/s40265-014-0287-4. Drugs. 2014. PMID: 25193627 Review.
Nonsense mutations are implicated in 5-70 % of individual cases of most inherited diseases, including Duchenne muscular dystrophy (DMD) and cystic fibrosis. Ataluren (Translarna) is an orally available, small molecule compound that targets nonsense mutations, …
Nonsense mutations are implicated in 5-70 % of individual cases of most inherited diseases, including Duchenne muscular dystrophy (DM …
Nanotherapy for Duchenne muscular dystrophy.
Nance ME, Hakim CH, Yang NN, Duan D. Nance ME, et al. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2018 Mar;10(2):10.1002/wnan.1472. doi: 10.1002/wnan.1472. Epub 2017 Apr 11. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2018. PMID: 28398005 Free PMC article. Review.
While a majority of DMD nanotherapies are still in early preclinical development, several [such as adeno-associated virus (AAV)-mediated systemic micro-dystrophin gene therapy] are advancing for phase I clinical trials. Recent regulatory approval of Ataluren (a nonsense mu …
While a majority of DMD nanotherapies are still in early preclinical development, several [such as adeno-associated virus (AAV)-mediated sys …
Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).
Finkel RS. Finkel RS. J Child Neurol. 2010 Sep;25(9):1158-64. doi: 10.1177/0883073810371129. Epub 2010 Jun 2. J Child Neurol. 2010. PMID: 20519671 Free PMC article. Review.
Small-molecule drugs (aminoglycosides and ataluren [PTC124]) have been developed and are in clinical testing in patients with nonsense mutations within the dystrophin gene. Use of nonsense mutation suppression in Duchenne/Becker muscular dystrophy may offer the pros …
Small-molecule drugs (aminoglycosides and ataluren [PTC124]) have been developed and are in clinical testing in patients with …
Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development.
Rowe SM, Clancy JP. Rowe SM, et al. BioDrugs. 2009;23(3):165-74. doi: 10.2165/00063030-200923030-00003. BioDrugs. 2009. PMID: 19627168 Review.
Premature termination codons (PTCs) are a cause of numerous genetic disorders spanning diseases that affect children and adults, and are produced by base pair substitutions that create abnormal stop codons within the open reading frame. ...These results, coup …
Premature termination codons (PTCs) are a cause of numerous genetic disorders spanning diseases that affect children an …
[Therapeutic update in cystic fibrosis].
Durupt S, Nove Josserand R, Durieu I. Durupt S, et al. Rev Med Interne. 2014 Jun;35(6):388-92. doi: 10.1016/j.revmed.2013.11.003. Epub 2013 Dec 3. Rev Med Interne. 2014. PMID: 24309546 Review. French.
Since 2012, the modulators of CFTR, molecules allowing a pharmacological approach targeted according to the type of the mutations, allows a more specific approach of the disease. ...Lumacaftor is going to be tested in association with ivacaftor in patients with the F508del …
Since 2012, the modulators of CFTR, molecules allowing a pharmacological approach targeted according to the type of the mutations, al …
Drug Discovery of Therapies for Duchenne Muscular Dystrophy.
Blat Y, Blat S. Blat Y, et al. J Biomol Screen. 2015 Dec;20(10):1189-203. doi: 10.1177/1087057115586535. Epub 2015 May 14. J Biomol Screen. 2015. PMID: 25975656 Review.
Duchenne muscular dystrophy (DMD) is a genetic, lethal, muscle disorder caused by the loss of the muscle protein, dystrophin, leading to progressive loss of muscle fibers and muscle weakness. Drug discovery efforts targeting DMD have used two main approaches: (1) th …
Duchenne muscular dystrophy (DMD) is a genetic, lethal, muscle disorder caused by the loss of the muscle protein, dystrophin, leading …
60 results