Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
about
Rett Syndrome: Crossing the Threshold to Clinical TranslationTargeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromesRett Syndrome: Reaching for Clinical TrialsA novel use of gentamicin in the ROS-mediated sensitization of NCI-H460 lung cancer cells to various anticancer agentsEx vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutationsFemale Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.Preclinical research in Rett syndrome: setting the foundation for translational success.Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.Effect of Sarizotan, a 5-HT1a and D2-like receptor agonist, on respiration in three mouse models of Rett syndromeSynthetic aminoglycosides efficiently suppress cystic fibrosis transmembrane conductance regulator nonsense mutations and are enhanced by ivacaftorRespiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.New trends in aminoglycosides use.Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutationsNonsense-mediated decay in genetic disease: friend or foe?Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.Complexities of Rett syndrome and MeCP2Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgeneSuppression of nonsense mutations as a therapeutic approach to treat genetic diseases.Rescue of Methyl-CpG Binding Protein 2 Dysfunction-induced Defects in Newborn Neurons by Pentobarbital.The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.Suppression of premature termination codons as a therapeutic approach.A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapiesWild-type microglia do not reverse pathology in mouse models of Rett syndromeA comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutationThe molecular basis of variable phenotypic severity among common missense mutations causing Rett syndromeDevelopment of generic immunoassay for the detection of a series of aminoglycosides with 6'-OH group for the treatment of genetic diseases in biological samples.A review of patents (2011-2015) towards combating resistance to and toxicity of aminoglycosidesNeuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation.Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment OptionsRescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation.Designer aminoglycosides that selectively inhibit cytoplasmic rather than mitochondrial ribosomes show decreased ototoxicity: a strategy for the treatment of genetic diseases.Therapeutics based on stop codon readthrough.Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Translational research: Rett syndrome and tuberous sclerosis complex.Rett syndrome and MeCP2.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).The chemical compound PTC124 does not affect cellular electrophysiology of cardiac ventricular myocytes.When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy.Defects in brainstem neurons associated with breathing and motor function in the Mecp2R168X/Y mouse model of Rett syndrome.
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P2860
Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
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2010 nî lūn-bûn
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2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Readthrough of nonsense mutati ...... eneration of a new mouse model
@ast
Readthrough of nonsense mutati ...... eneration of a new mouse model
@en
Readthrough of nonsense mutati ...... eneration of a new mouse model
@nl
type
label
Readthrough of nonsense mutati ...... eneration of a new mouse model
@ast
Readthrough of nonsense mutati ...... eneration of a new mouse model
@en
Readthrough of nonsense mutati ...... eneration of a new mouse model
@nl
prefLabel
Readthrough of nonsense mutati ...... eneration of a new mouse model
@ast
Readthrough of nonsense mutati ...... eneration of a new mouse model
@en
Readthrough of nonsense mutati ...... eneration of a new mouse model
@nl
P2093
P2860
P1476
Readthrough of nonsense mutati ...... eneration of a new mouse model
@en
P2093
Cornelia Brendel
Igor Nudelman
Jutta Gärtner
Peter Huppke
Timor Baasov
Valery Belakhov
P2860
P2888
P304
P356
10.1007/S00109-010-0704-4
P577
2010-12-01T00:00:00Z
P5875
P6179
1038025680