Literature DB >> 20795950

NMD: RNA biology meets human genetic medicine.

Madhuri Bhuvanagiri1, Anna M Schlitter, Matthias W Hentze, Andreas E Kulozik.   

Abstract

NMD (nonsense-mediated mRNA decay) belongs to the best-studied mRNA surveillance systems of the cell, limiting the synthesis of truncated and potentially harmful proteins on the one hand and playing an initially unexpected role in the regulation of global gene expression on the other hand. In the present review, we briefly discuss the factors involved in NMD, the different models proposed for the recognition of PTCs (premature termination codons), the diverse physiological roles of NMD, the involvement of this surveillance pathway in disease and the current strategies for medical treatment of PTC-related diseases.

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Year:  2010        PMID： 20795950     DOI： 10.1042/BJ20100699

Source DB:  PubMed          Journal:  Biochem J        ISSN： 0264-6021            Impact factor:   3.857


  104 in total

1.  A conserved microRNA/NMD regulatory circuit controls gene expression.

Authors:  Rachid Karam; Miles Wilkinson
Journal:  RNA Biol       Date:  2012-01-01       Impact factor: 4.652

2.  Reactivation of nonsense-mediated mRNA decay protects against C9orf72 dipeptide-repeat neurotoxicity.

Authors:  Wangchao Xu; Puhua Bao; Xin Jiang; Haifang Wang; Meiling Qin; Ruiqi Wang; Tao Wang; Yi Yang; Ileana Lorenzini; Lujian Liao; Rita Sattler; Jin Xu
Journal:  Brain       Date:  2019-05-01       Impact factor: 13.501

3.  Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.

Authors:  Giulia Falivelli; Antonella De Jaco; Flores Lietta Favaloro; Hyuck Kim; Jennifer Wilson; Noga Dubi; Mark H Ellisman; Brett S Abrahams; Palmer Taylor; Davide Comoletti
Journal:  Hum Mol Genet       Date:  2012-08-07       Impact factor: 6.150

4.  Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.

Authors:  Gabriele Neu-Yilik; Beate Amthor; Niels H Gehring; Sharif Bahri; Helena Paidassi; Matthias W Hentze; Andreas E Kulozik
Journal:  RNA       Date:  2011-03-09       Impact factor: 4.942

5.  The unfolded protein response is shaped by the NMD pathway.

Authors:  Rachid Karam; Chih-Hong Lou; Heike Kroeger; Lulu Huang; Jonathan H Lin; Miles F Wilkinson
Journal:  EMBO Rep       Date:  2015-03-25       Impact factor: 8.807

6.  Implication of non-coding PAX6 mutations in aniridia.

Authors:  Julie Plaisancié; M Tarilonte; P Ramos; C Jeanton-Scaramouche; V Gaston; H Dollfus; D Aguilera; J Kaplan; L Fares-Taie; F Blanco-Kelly; C Villaverde; C Francannet; A Goldenberg; I Arroyo; J M Rozet; C Ayuso; N Chassaing; P Calvas; M Corton
Journal:  Hum Genet       Date:  2018-10-05       Impact factor: 4.132

Review 7.  Therapeutics based on stop codon readthrough.

Authors:  Kim M Keeling; Xiaojiao Xue; Gwen Gunn; David M Bedwell
Journal:  Annu Rev Genomics Hum Genet       Date:  2014-04-18       Impact factor: 8.929

8.  Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Authors:  Claudia Pamela Radic; Liliana Carmen Rossetti; Miguel Martín Abelleyro; Miguel Candela; Raúl Pérez Bianco; Miguel de Tezanos Pinto; Irene Beatriz Larripa; Anne Goodeve; Carlos Daniel De Brasi
Journal:  Thromb Haemost       Date:  2012-10-23       Impact factor: 5.249

9.  Integrin α3β1 controls mRNA splicing that determines Cox-2 mRNA stability in breast cancer cells.

Authors:  Sita Subbaram; Scott P Lyons; Kimberly B Svenson; Sean L Hammond; Lorena G McCabe; Sridar V Chittur; C Michael DiPersio
Journal:  J Cell Sci       Date:  2014-01-16       Impact factor: 5.285

10.  A physical, genetic and functional sequence assembly of the barley genome.

Authors:  Klaus F X Mayer; Robbie Waugh; John W S Brown; Alan Schulman; Peter Langridge; Matthias Platzer; Geoffrey B Fincher; Gary J Muehlbauer; Kazuhiro Sato; Timothy J Close; Roger P Wise; Nils Stein
Journal:  Nature       Date:  2012-10-17       Impact factor: 49.962
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