Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.
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Reawakening retrocyclins: ancestral human defensins active against HIV-1Aminoglycosides and other nonsense suppression therapies for the treatment of dystrophinopathyNew approaches to treatment of primary immunodeficiencies: fixing mutations with chemicalsCodon-biased translation can be regulated by wobble-base tRNA modification systems during cellular stress responsesTherapeutic suppression of premature termination codons: mechanisms and clinical considerations (review)SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic modelsAntiviral activity of geneticin against dengue virus.ATM-dependent MiR-335 targets CtIP and modulates the DNA damage responseEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesA novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.New trends in aminoglycosides use.Mass spectrometry-based tissue imaging of small moleculesRapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.Ataluren treatment of patients with nonsense mutation dystrophinopathy.Nonsense-mediated decay in genetic disease: friend or foe?SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin.Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsTranslational infidelity-induced protein stress results from a deficiency in Trm9-catalyzed tRNA modifications.Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients.Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VIRead-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophyA review of patents (2011-2015) towards combating resistance to and toxicity of aminoglycosidesTranslational read-through of a nonsense mutation causing Bartter syndrome.Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.Stably integrated luxCDABE for assessment of Salmonella invasion kinetics.Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Nonaminoglycoside compounds induce readthrough of nonsense mutations.Ataluren as an agent for therapeutic nonsense suppression.Primary immunodeficiencies associated with DNA-repair disorders.Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.Small molecules as therapeutic agents for inborn errors of metabolism.
P2860
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P2860
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 21 October 2004
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Correction of ATM gene functio ...... premature termination codons.
@en
Correction of ATM gene functio ...... premature termination codons.
@nl
type
label
Correction of ATM gene functio ...... premature termination codons.
@en
Correction of ATM gene functio ...... premature termination codons.
@nl
prefLabel
Correction of ATM gene functio ...... premature termination codons.
@en
Correction of ATM gene functio ...... premature termination codons.
@nl
P2093
P2860
P356
P1476
Correction of ATM gene functio ...... premature termination codons.
@en
P2093
Chih-Hung Lai
Helen H Chun
Kristin M Gamo
Midori Mitui
Richard A Gatti
Shareef A Nahas
P2860
P304
15676-15681
P356
10.1073/PNAS.0405155101
P407
P577
2004-10-21T00:00:00Z