How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD

(2019) Sujatha Jagannathan et al.   eLife

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

(2018) M. Cecilia Poli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stop codon readthrough generates a C-terminally extended variant of the human vitamin D receptor with reduced calcitriol response

(2018) Gary Loughran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Stem-Loop Structure in Potato Leafroll Virus Open Reading Frame 5 (ORF5) Is Essential for Readthrough Translation of the Coat Protein ORF Stop Codon 700 Bases Upstream

(2018) Yi Xu et al.   JOURNAL OF VIROLOGY

Beyond quality control: The role of nonsense-mediated mRNA decay (NMD) in regulating gene expression

(2018) Sofia Nasif et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

hnRNP L‐dependent protection of normal mRNAs from NMD subverts quality control in B cell lymphoma

(2018) Aparna Kishor et al.   EMBO JOURNAL

Nonsense-mediated RNA decay in the brain: emerging modulator of neural development and disease

(2018) Samie R. Jaffrey et al.   NATURE REVIEWS NEUROSCIENCE

The role of alternative splicing coupled to nonsense-mediated mRNA decay in human disease

(2017) Paulo J. da Costa et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

p38 MAPK inhibits nonsense-mediated RNA decay in response to persistent DNA damage in noncycling cells

(2017) Andrew Nickless et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins

(2017) Jieshuang Jia et al.   JOURNAL OF CELL SCIENCE

A Upf3b-mutant mouse model with behavioral and neurogenesis defects

(2017) L Huang et al.   MOLECULAR PSYCHIATRY

Phylogenetically Conserved Sequences Around Myelin P0 Stop Codon are Essential for Translational Readthrough to Produce L-MPZ

(2017) Yoshihide Yamaguchi et al.   NEUROCHEMICAL RESEARCH

Nonsense-mediated mRNA decay: a ‘nonsense’ pathway makes sense in stem cell biology

(2017) Xin Han et al.   NUCLEIC ACIDS RESEARCH

Does eIF3 promote reinitiation after translation of short upstream ORFs also in mammalian cells?

(2017) Vladislava Hronová et al.   RNA Biology

Control of gene expression through the nonsense-mediated RNA decay pathway

(2017) Andrew Nickless et al.   Cell and Bioscience

Frameshift indels introduced by genome editing can lead to in-frame exon skipping

(2017) Simon Lalonde et al.   PLoS One

NMD Classifier: A reliable and systematic classification tool for nonsense-mediated decay events

(2017) Min-Kung Hsu et al.   PLoS One

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

(2017) Aneta Ścieżyńska et al.   PLoS One

MicroRNA 433 regulates nonsense-mediated mRNA decay by targeting SMG5 mRNA

(2016) Yi Jin et al.   BMC MOLECULAR BIOLOGY

The Antagonistic Gene Paralogs Upf3a and Upf3b Govern Nonsense-Mediated RNA Decay

(2016) Eleen Y. Shum et al.   CELL

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population

(2016) Sujatha Jagannathan et al.   GENOME RESEARCH

Nonsense-mediated mRNA decay in humans at a glance

(2016) Tatsuaki Kurosaki et al.   JOURNAL OF CELL SCIENCE

The nonsense-mediated RNA decay pathway is disrupted in inflammatory myofibroblastic tumors

(2016) JingWei Lu et al.   JOURNAL OF CLINICAL INVESTIGATION

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

Inhibition of nonsense-mediated RNA decay by ER stress

(2016) Zhelin Li et al.   RNA

Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways

(2016) Martino Colombo et al.   RNA

The Meaning of NMD: Translate or Perish

(2016) Saverio Brogna et al.   TRENDS IN GENETICS

Exon Junction Complexes Show a Distributional Bias toward Alternatively Spliced mRNAs and against mRNAs Coding for Ribosomal Proteins

(2016) Christian Hauer et al.   Cell Reports

Nonsense-mediated mRNA decay: novel mechanistic insights and biological impact

(2016) Evangelos D. Karousis et al.   Wiley Interdisciplinary Reviews-RNA

Polypyrimidine tract binding protein 1 protects mRNAs from recognition by the nonsense-mediated mRNA decay pathway

(2016) Zhiyun Ge et al.   eLife

Harnessing short poly(A)-binding protein-interacting peptides for the suppression of nonsense-mediated mRNA decay

(2016) Tobias Fatscher et al.   Scientific Reports

NMD: At the crossroads between translation termination and ribosome recycling

(2015) Alper Celik et al.   BIOCHIMIE

Nonsense suppression therapies in ocular genetic diseases

(2015) Xia Wang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mechanism, factors, and physiological role of nonsense-mediated mRNA decay

(2015) Tobias Fatscher et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Smg6/Est1 licenses embryonic stem cell differentiation via nonsense-mediated mRNA decay

(2015) T. Li et al.   EMBO JOURNAL

RNA degradation drives stem cell differentiation

(2015) C.-H. Lou et al.   EMBO JOURNAL

The unfolded protein response is shaped by the NMD pathway

(2015) R. Karam et al.   EMBO REPORTS

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

(2015) Amanda M. Rickard et al.   HUMAN MOLECULAR GENETICS

Translational readthrough-promoting drugs enhance pseudoknot-mediated suppression of the stop codon at the Moloney murine leukemia virus gag–pol junction

(2015) Lisa Green et al.   JOURNAL OF GENERAL VIROLOGY

Antisense oligonucleotide–directed inhibition of nonsense-mediated mRNA decay

(2015) Tomoki T Nomakuchi et al.   NATURE BIOTECHNOLOGY

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity

(2015) Francisco J.C. Pereira et al.   NUCLEIC ACIDS RESEARCH

Identification of elements in human long 3′ UTRs that inhibit nonsense-mediated decay

(2015) Kalodiah G. Toma et al.   RNA

Attenuation of nonsense-mediated mRNA decay facilitates the response to chemotherapeutics

(2015) Maximilian W. Popp et al.   Nature Communications

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

(2015) Qing Feng et al.   eLife

Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors

(2014) Theo J. M. Hulsebos et al.   ACTA NEUROPATHOLOGICA

Therapeutics Based on Stop Codon Readthrough

(2014) Kim M. Keeling et al.   Annual Review of Genomics and Human Genetics

The unfolded protein response affects readthrough of premature termination codons

(2014) Y. S. Oren et al.   EMBO Molecular Medicine

Nonsense-mediated decay in genetic disease: Friend or foe?

(2014) Jake N. Miller et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma

(2014) Chen Liu et al.   NATURE MEDICINE

Evidence of efficient stop codon readthrough in four mammalian genes

(2014) Gary Loughran et al.   NUCLEIC ACIDS RESEARCH

The interaction of cytoplasmic poly(A)-binding protein with eukaryotic initiation factor 4G suppresses nonsense-mediated mRNA decay

(2014) Tobias Fatscher et al.   RNA

Long Open Reading Frame Transcripts Escape Nonsense-Mediated mRNA Decay in Yeast

(2014) Laurence Decourty et al.   Cell Reports

Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway

(2014) Chih H. Lou et al.   Cell Reports

3′ UTR Length and Messenger Ribonucleoprotein Composition Determine Endocleavage Efficiencies at Termination Codons

(2014) Volker Boehm et al.   Cell Reports

Ribosomal Readthrough at a Short UGA Stop Codon Context Triggers Dual Localization of Metabolic Enzymes in Fungi and Animals

(2014) Alina C. Stiebler et al.   PLoS Genetics

LQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation

(2013) Matthew R. Stump et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

MicroRNA 125 represses nonsense-mediated mRNA decay by regulating SMG1 expression

(2013) Gang Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Global analyses of UPF1 binding and function reveal expanded scope of nonsense-mediated mRNA decay

(2013) J. A. Hurt et al.   GENOME RESEARCH

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

(2013) Lachlan A. Jolly et al.   HUMAN MOLECULAR GENETICS

The Upf Factor Complex Interacts with Aberrant Products Derived from mRNAs Containing a Premature Termination Codon and Facilitates Their Proteasomal Degradation

(2013) Kazushige Kuroha et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Translation-dependent displacement of UPF1 from coding sequences causes its enrichment in 3′ UTRs

(2013) David Zünd et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Nonsense-mediated mRNA decay: Inter-individual variability and human disease

(2013) Lam Son Nguyen et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Rules that govern UPF1 binding to mRNA 3′ UTRs

(2013) Tatsuaki Kurosaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

L-MPZ, a Novel Isoform of Myelin P0, Is Produced by Stop Codon Readthrough

(2012) Yoshihide Yamaguchi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation

(2012) Matthew R. Stump et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

(2012) Hui-Ling Rose Lee et al.   PHARMACOLOGY & THERAPEUTICS

RNA surveillance is required for endoplasmic reticulum homeostasis

(2012) K. Sakaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A conserved microRNA/NMD regulatory circuit controls gene expression

(2012) Rachid Karam et al.   RNA Biology

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

Inhibition of Nonsense-Mediated RNA Decay by the Tumor Microenvironment Promotes Tumorigenesis

(2011) D. Wang et al.   MOLECULAR AND CELLULAR BIOLOGY

RNA Homeostasis Governed by Cell Type-Specific and Branched Feedback Loops Acting on NMD

(2011) Lulu Huang et al.   MOLECULAR CELL

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

(2011) L S Nguyen et al.   MOLECULAR PSYCHIATRY

Converting nonsense codons into sense codons by targeted pseudouridylation

(2011) John Karijolich et al.   NATURE

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

(2011) G. Neu-Yilik et al.   RNA

Characterization of the stop codon readthrough signal of Colorado tick fever virus segment 9 RNA

(2011) S. Napthine et al.   RNA

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

(2011) H. Yepiskoposyan et al.   RNA

Translation Reinitiation Relies on the Interaction between eIF3a/TIF32 and Progressively Folded cis-Acting mRNA Elements Preceding Short uORFs

(2011) Vanda Munzarová et al.   PLoS Genetics

Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases

(2011) Kim M. Keeling et al.   Wiley Interdisciplinary Reviews-RNA

Upf1 Senses 3′UTR Length to Potentiate mRNA Decay

(2010) J. Robert Hogg et al.   CELL

Transcripts from a novelBMPR2termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension

(2010) R Hamid et al.   CLINICAL GENETICS

Translational competence of ribosomes released from a premature termination codon is modulated by NMD factors

(2010) S. Ghosh et al.   RNA

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Upf1 stimulates degradation of the product derived from aberrant messenger RNA containing a specific nonsense mutation by the proteasome

(2009) Kazushige Kuroha et al.   EMBO REPORTS

A UPF3-mediated regulatory switch that maintains RNA surveillance

(2009) Wai-Kin Chan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Global analysis of alternative splicing uncovers developmental regulation of nonsense-mediated decay in C. elegans

(2009) S. Barberan-Soler et al.   RNA

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues

(2008) Almoutassem B Zetoune et al.   BMC GENETICS

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

(2008) Pavel V Ivanov et al.   EMBO JOURNAL

SMD and NMD are competitive pathways that contribute to myogenesis: effects on PAX3 and myogenin mRNAs

(2008) C. Gong et al.   GENES & DEVELOPMENT

Upf1 potentially serves as a RING-related E3 ubiquitin ligase via its association with Upf3 in yeast

(2008) S. Takahashi et al.   RNA

A Competition between Stimulators and Antagonists of Upf Complex Recruitment Governs Human Nonsense-Mediated mRNA Decay

(2008) Guramrit Singh et al.   PLOS BIOLOGY

Posttranscriptional Gene Regulation by Spatial Rearrangement of the 3′ Untranslated Region

(2008) Andrea B Eberle et al.   PLOS BIOLOGY

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

(2007) Olga Anczuków et al.   HUMAN MUTATION