Results 21 to 30 of about 1,505 (151)

Ataluren binds to multiple protein synthesis apparatus sites and competitively inhibits release factor-dependent termination

Nature Communications, 2022
Ataluren is the only nonsense suppressor drug currently approved for clinical use. Here, the authors determine where ataluren binds to the ribosome and how it inhibits termination at nonsense codons.
Shijie Huang, Arpan Bhattacharya, Mikel D. Ghelfi, Hong Li, Clark Fritsch, David M. Chenoweth, Yale E. Goldman, Barry S. Cooperman   +7 more
doaj   +1 more source

Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder

Annals of Clinical and Translational Neurology, 2021
Objective Ataluren is a compound that reads through premature stop codons and increases protein expression by increasing translation without modifying transcription or mRNA stability.
Orrin Devinsky, LaToya King, Judith Bluvstein, Daniel Friedman   +3 more
doaj   +1 more source

Nonsense suppression activity of PTC124 (ataluren) [PDF]

Proceedings of the National Academy of Sciences, 2009
Auld et al. (1) suggest that PTC124's nonsense suppression activity may be an indirect consequence of the compound's effects on firefly luciferase (FLuc) enzymatic activity. However, our initial characterization of potential nonsense-suppressing compounds in FLuc assays also utilized independent assays of nonsense suppression in disease-relevant ...
Stuart W, Peltz, Ellen M, Welch, Allan, Jacobson, Christopher R, Trotta, Nikolai, Naryshkin, H Lee, Sweeney, David M, Bedwell   +6 more
openaire   +2 more sources

In vitro metabolism, reaction phenotyping, enzyme kinetics, CYP inhibition and induction potential of ataluren

Pharmacology Research & Perspectives, 2020
Ataluren promotes ribosomal readthrough of premature termination codons in mRNA which result from nonsense mutations. In vitro studies were performed to characterize the metabolism and enzyme kinetics of ataluren and its interaction potential with CYP ...
Ronald Kong, Jiyuan Ma, Seongwoo Hwang, Young‐Choon Moon, Ellen M. Welch, Marla Weetall, Joseph M. Colacino, Neil Almstead, John Babiak, Elizabeth Goodwin   +9 more
doaj   +1 more source

Ataluren treatment of patients with nonsense mutation dystrophinopathy [PDF]

Muscle & Nerve, 2014
ABSTRACTIntroduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double‐blind, placebo‐controlled study; males ≥5 years with nm‐dystrophinopathy ...
Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P, Connolly, Anne M, Day, John W, Flanigan, Kevin M, Goemans, Nathalie, Jones, Kristi J, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B, Russman, Barry, Ryan, Monique M, Tulinius, Mar, Voit, Thomas, Moore, Steven A, Lee Sweeney, H, Abresch, Richard T, Coleman, Kim L, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik, Barth, Jay, Elfring, Gary L, Reha, Allen, Spiegel, Robert J, O'donnell, Michael W, Peltz, Stuart W, Mcdonald, Craig M, FOR THE PTC124-GD-007-DMD STUDY GROUP,   +34 more
openaire   +5 more sources

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. [PDF]

PLoS ONE, 2013
Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein.
Richard S Finkel, Kevin M Flanigan, Brenda Wong, Carsten Bönnemann, Jacinda Sampson, H Lee Sweeney, Allen Reha, Valerie J Northcutt, Gary Elfring, Jay Barth, Stuart W Peltz   +10 more
doaj   +1 more source

Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies

Medicina, 2021
Background and objectives: Choroideremia (CHM) is an X-linked recessive chorioretinal dystrophy caused by mutations involving the CHM gene. Gene therapy has entered late-phase clinical trials, although there have been variable results.
Alessandro Abbouda, Filippo Avogaro, Mariya Moosajee, Enzo Maria Vingolo   +3 more
doaj   +1 more source

Beyond the bench: Revitalizing ataluren development for rare genetic disorders. [PDF]

Mol Ther
Bezzerri V, Cipolli M.
europepmc   +3 more sources

Off-Label Use of Ataluren in Four Non-ambulatory Patients With Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength

Frontiers in Pediatrics, 2018
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Stop codon read-through therapy is available with the drug Ataluren (Translarna® by PTC
Daniel Ebrahimi-Fakhari, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Hashim Abdul-Khaliq, Mohammed Ghiath Shamdeen, Bernhard Mischo, Michael Zemlin, Sascha Meyer   +8 more
doaj   +1 more source

A High-Throughput Assay for In Vitro Determination of Release Factor-Dependent Peptide Release from a Pretermination Complex by Fluorescence Anisotropy—Application to Nonsense Suppressor Screening and Mechanistic Studies

Biomolecules, 2023
Premature termination codons (PTCs) account for ~12% of all human disease mutations. Translation readthrough-inducing drugs (TRIDs) are prominent among the several therapeutic approaches being used to overcome PTCs.
Mikel D. Ghelfi, Saleem Y. Bhat, Hong Li, Barry S. Cooperman   +3 more
doaj   +1 more source