Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. - Wikidata - awgldk - TriplyDB

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.

http://www.wikidata.org/entity/Q41840137

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Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment Nonsense-mediated mRNA decay: inter-individual variability and human disease A combined proteomics/genomics approach links hepatitis C virus infection with nonsense-mediated mRNA decay Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations Novel small molecules potentiate premature termination codon readthrough by aminoglycosides Antagonistic factors control the unproductive splicing of SC35 terminal intron.Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues.The unfolded protein response affects readthrough of premature termination codons Heritability in the efficiency of nonsense-mediated mRNA decay in humans.Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.New trends in aminoglycosides use.Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis When a ribosome encounters a premature termination codon.Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator Class 1 CF Mutations The genetic basis of non-syndromic intellectual disability: a review Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.Nonsense-mediated decay in genetic disease: friend or foe?A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation.Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.Activation of Type 1 CRH receptor isoforms induces serotonin release from human carcinoid BON-1N cells: an enterochromaffin cell model.A whole-genome analysis of premature termination codons.The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.Suppression of premature termination codons as a therapeutic approach.A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies A system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay.Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

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P2860

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.

http://www.wikidata.org/entity/Q41840137

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Nonsense-mediated mRNA decay a ...... brosis patients to gentamicin.

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Nonsense-mediated mRNA decay a ...... brosis patients to gentamicin.

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Nonsense-mediated mRNA decay a ...... brosis patients to gentamicin.

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Journal of Clinical Investigation

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Nonsense-mediated mRNA decay a ...... brosis patients to gentamicin.

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P2093

Andreas E Kulozik

http://www.w3.org/2001/XMLSchema#string

Batsheva Kerem

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Dov Virgilis

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Eitan Kerem

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Gabriele Neu-Yilik

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Liat Linde

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Malka Nissim-Rafinia

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Michael Wilschanski

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Stephanie Boelz

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Yasmin Yaacov

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P2860

Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro

Y14 and hUpf3b form an NMD-activating complex

Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements

Alternative splicing and nonsense-mediated mRNA decay regulate mammalian ribosomal gene expression.

Molecular basis for dominantly inherited inclusion body beta-thalassemia

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon

Nonsense-mediated mRNA decay in health and disease

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683-692

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10.1172/JCI28523

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3

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117

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17290305

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cystic fibrosis

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1783999

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