Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
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Duchenne Muscular Dystrophy: From Diagnosis to TherapyTranslational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequenceThe novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapyNonsense-mediated mRNA decay in humans at a glanceEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesChemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiaeAminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.Toward a rationale for the PTC124 (Ataluren) promoted readthrough of premature stop codons: a computational approach and GFP-reporter cell-based assay5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Negamycin induces translational stalling and miscoding by binding to the small subunit head domain of the Escherichia coli ribosome.Nonsense-mediated decay in genetic disease: friend or foe?A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay.Rules of UGA-N decoding by near-cognate tRNAs and analysis of readthrough on short uORFs in yeastNonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Long-term nonsense suppression therapy moderates MPS I-H disease progression.Therapeutics based on stop codon readthrough.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Therapeutic targets associated to E-cadherin dysfunction in gastric cancer.Recent advances in the genetics and management of harlequin ichthyosis.Nonsense suppression therapies in ocular genetic diseases.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).A flow cytometry-based reporter assay identifies macrolide antibiotics as nonsense mutation read-through agents.The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.Synthesis and activity of a novel inhibitor of nonsense-mediated mRNA decayFactor VIII Antigen, Activity, and Mutations in Hemophilia A.Aminoglycoside interactions and impacts on the eukaryotic ribosome.A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells.Managing Bardet–Biedl Syndrome—Now and in the Future.Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.Variants: Association With Cardiac Disorders
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P2860
Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
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type
label
Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
@en
prefLabel
Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
@en
P1476
Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
@en
P2093
Hui-Ling Rose Lee
Joseph P Dougherty
P304
P356
10.1016/J.PHARMTHERA.2012.07.007
P577
2012-07-20T00:00:00Z