CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway
暂无分享,去创建一个
Shuling Guo | B. Monia | A. Revenko | Lulu Huang | M. Mense | M. Keenan | E. Sanderlin
[1] R. Green,et al. A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion , 2021, Nature Communications.
[2] C. Farinha,et al. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation. , 2021, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[3] S. Crooke,et al. Antisense technology: A review , 2021, The Journal of biological chemistry.
[4] Guramrit Singh,et al. The Branched Nature of the Nonsense-Mediated mRNA Decay Pathway. , 2020, Trends in genetics : TIG.
[5] E. Kerem. ELX-02: an investigational read-through agent for the treatment of nonsense mutation-related genetic disease , 2020, Expert opinion on investigational drugs.
[6] Yi-Tao Yu,et al. Suppression of Nonsense Mutations by New Emerging Technologies , 2020, International journal of molecular sciences.
[7] T. Hwang,et al. Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR , 2020, The Journal of physiology.
[8] Anat Frydman-Marom,et al. Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX‐02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers , 2019, Clinical pharmacology in drug development.
[9] R. Green,et al. Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides , 2019, bioRxiv.
[10] C. Merlo,et al. Decreased mRNA and protein stability of W1282X limits response to modulator therapy. , 2019, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[11] Shuling Guo,et al. Nonsense Mediated RNA Decay Pathway Inhibition Restores Expression and Function of W1282X CFTR. , 2019, American journal of respiratory cell and molecular biology.
[12] Shuling Guo,et al. Targeting Translation Termination Machinery with Antisense Oligonucleotides for Diseases Caused by Nonsense Mutations , 2019, Nucleic acid therapeutics.
[13] H. Bui,et al. Steric Inhibition of 5′ UTR Regulatory Elements Results in Upregulation of Human CFTR , 2019, Molecular therapy : the journal of the American Society of Gene Therapy.
[14] A. Sivachenko,et al. Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells. , 2019, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[15] C. Merlo,et al. Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis , 2018, PLoS genetics.
[16] E. Ziętkiewicz,et al. Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons , 2018, Molecular medicine.
[17] Shuling Guo,et al. Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations , 2018, Genome Biology.
[18] D. Bedwell,et al. Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences , 2017, Human molecular genetics.
[19] Christopher R. Sibley,et al. Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates , 2017, RNA.
[20] T. CrookeStanley. Molecular Mechanisms of Antisense Oligonucleotides. , 2017 .
[21] O. Mühlemann,et al. Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways , 2017, RNA.
[22] J. Foskett. CFTR nonsense mutations: Therapeutic benefits from clinically approved drugs? , 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[23] G. Lukács,et al. Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product*♦ , 2016, The Journal of Biological Chemistry.
[24] B. Porse,et al. UPF2-Dependent Nonsense-Mediated mRNA Decay Pathway Is Essential for Spermatogenesis by Selectively Eliminating Longer 3'UTR Transcripts , 2016, PLoS genetics.
[25] U. Wolfrum,et al. Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs) , 2016, BioDrugs.
[26] Shuling Guo,et al. Knockdown of nuclear-retained long noncoding RNAs using modified DNA antisense oligonucleotides. , 2015, Methods in molecular biology.
[27] C. Goss,et al. Cystic fibrosis , 2015, Nature Reviews Disease Primers.
[28] A. Sandelin,et al. Human nonsense-mediated RNA decay initiates widely by endonucleolysis and targets snoRNA host genes , 2014, Genes & development.
[29] L. Maquat,et al. A post-translational regulatory switch on UPF1 controls targeted mRNA degradation , 2014, Genes & development.
[30] O. Mühlemann,et al. A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD , 2014, Nucleic acids research.
[31] A. Hinzpeter,et al. Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies. , 2014, The international journal of biochemistry & cell biology.
[32] K. De Boeck,et al. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. , 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[33] E. Izaurralde,et al. The SMG5–SMG7 heterodimer directly recruits the CCR4–NOT deadenylase complex to mRNAs containing nonsense codons via interaction with POP2 , 2013, Genes & development.
[34] Osamu Onodera,et al. Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity , 2013, Proceedings of the National Academy of Sciences.
[35] M. Wilkinson,et al. Regulation of nonsense‐mediated mRNA decay , 2012, Wiley interdisciplinary reviews. RNA.
[36] M. Okoniewski,et al. Autoregulation of the nonsense-mediated mRNA decay pathway in human cells. , 2011, RNA.
[37] D. Bedwell,et al. Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases , 2011, Wiley interdisciplinary reviews. RNA.
[38] E. Stone,et al. RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD. , 2011, Molecular cell.
[39] H. Schneider,et al. Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon , 2011, Journal of Medical Genetics.
[40] M. Amaral,et al. Deletion of CFTR Translation Start Site Reveals Functional Isoforms of the Protein in CF Patients , 2009, Cellular Physiology and Biochemistry.
[41] J. Gécz,et al. A UPF3-mediated regulatory switch that maintains RNA surveillance , 2009, Nature Structural &Molecular Biology.
[42] H. Hirano,et al. SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay. , 2009, Genes & development.
[43] Matthew Mort,et al. A meta‐analysis of nonsense mutations causing human genetic disease , 2008, Human mutation.
[44] F. Bonneau,et al. NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity , 2008, Nature Structural &Molecular Biology.
[45] J. Clancy,et al. Restoration of W1282X CFTR activity by enhanced expression. , 2007, American journal of respiratory cell and molecular biology.
[46] M. Wilkinson,et al. An alternative branch of the nonsense‐mediated decay pathway , 2007, The EMBO journal.
[47] B. Kerem,et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. , 2007, The Journal of clinical investigation.
[48] M. Hentze,et al. Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements. , 2005, Molecular cell.
[49] Jean-Pierre Rousset,et al. UAG readthrough in mammalian cells: Effect of upstream and downstream stop codon contexts reveal different signals , 2001, BMC Molecular Biology.
[50] D. Bedwell,et al. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. , 2000, RNA.
[51] L. Maquat,et al. Evidence that translation reinitiation abrogates nonsense‐mediated mRNA decay in mammalian cells , 1997, The EMBO journal.
[52] D. Bedwell,et al. The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae. , 1995, Journal of molecular biology.
[53] T. Flotte,et al. Alternate Translation Initiation Codons Can Create Functional Forms of Cystic Fibrosis Transmembrane Conductance Regulator (*) , 1995, The Journal of Biological Chemistry.
[54] L. Chin,et al. CFTR expression and chloride secretion in polarized immortal human bronchial epithelial cells. , 1994, American journal of respiratory cell and molecular biology.