Nonsense-mediated mRNA decay: inter-individual variability and human disease (Q27015298)

Crossref

language of work or name

1 reference

October 2014

1 reference

Neuroscience & Biobehavioral Reviews

published in

1 reference

volume

46 Pt 2

1 reference

page(s)

175-86

1 reference

Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decay

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SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay

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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

21 March 2017

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SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells

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SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan

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Upf1 phosphorylation triggers translational repression during nonsense-mediated mRNA decay

21 March 2017

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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

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The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context

21 March 2017

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Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

21 March 2017

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Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay

21 March 2017

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

21 March 2017

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SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway

21 March 2017

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Mammalian Staufen1 recruits Upf1 to specific mRNA 3'UTRs so as to elicit mRNA decay

21 March 2017

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An eIF4AIII-containing complex required for mRNA localization and nonsense-mediated mRNA decay

21 March 2017

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eIF4A3 is a novel component of the exon junction complex

21 March 2017

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Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7

21 March 2017

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Structure of the Y14-Magoh core of the exon junction complex

21 March 2017

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A novel mode of RBD-protein recognition in the Y14–Mago complex

21 March 2017

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Y14 and hUpf3b form an NMD-activating complex

21 March 2017

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Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1.

21 March 2017

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The exon junction complex is detected on CBP80-bound but not eIF4E-bound mRNA in mammalian cells: dynamics of mRNP remodeling

21 March 2017

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Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon-exon junction complex

21 March 2017

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Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1

21 March 2017

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Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex

21 March 2017

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Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay

21 March 2017

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Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein

21 March 2017

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Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon

21 March 2017

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The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions

21 March 2017

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Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)

21 March 2017

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Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes

21 March 2017

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Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm

21 March 2017

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MAGOH interacts with a novel RNA-binding protein

21 March 2017

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SMG-2 is a phosphorylated protein required for mRNA surveillance in Caenorhabditis elegans and related to Upf1p of yeast

21 March 2017

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Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein

21 March 2017

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Mammalian orthologues of a yeast regulator of nonsense transcript stability

21 March 2017

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Molecular insights into the interaction of PYM with the Mago-Y14 core of the exon junction complex

21 March 2017

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Crystal structure of theDrosophilaMago nashi–Y14 complex

21 March 2017

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The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames

21 March 2017

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Upf1p control of nonsense mRNA translation is regulated by Nmd2p and Upf3p

21 March 2017

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Identification of a novel component of the nonsense-mediated mRNA decay pathway by use of an interacting protein screen

21 March 2017

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Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities

21 March 2017

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Variation and genetic control of protein abundance in humans

21 March 2017

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Distant N- and C-terminal domains are required for intrinsic kinase activity of SMG-1, a critical component of nonsense-mediated mRNA decay

21 March 2017

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The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3

21 March 2017

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A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays

21 March 2017

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Overexpression of the c-myc oncogene inhibits nonsense-mediated RNA decay in B lymphocytes

21 March 2017

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21 March 2017

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21 March 2017

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The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay

7 April 2017

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

7 April 2017

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

7 April 2017

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Comparison of EJC-enhanced and EJC-independent NMD in human cells reveals two partially redundant degradation pathways

7 April 2017

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28 September 2017

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Regulation of nonsense-mediated mRNA decay: implications for physiology and disease

28 September 2017

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Nonsense-mediated mRNA decay - mechanisms of substrate mRNA recognition and degradation in mammalian cells

28 September 2017

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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

28 September 2017

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Staufen2 functions in Staufen1-mediated mRNA decay by binding to itself and its paralog and promoting UPF1 helicase but not ATPase activity

28 September 2017

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Identification of hundreds of novel UPF1 target transcripts by direct determination of whole transcriptome stability

28 September 2017

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Regulation of nonsense-mediated mRNA decay

28 September 2017

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Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

28 September 2017

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Mammalian tissues defective in nonsense-mediated mRNA decay display highly aberrant splicing patterns

28 September 2017

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Patterns of cis regulatory variation in diverse human populations

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28 September 2017

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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

28 September 2017

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

28 September 2017

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Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression

28 September 2017

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

28 September 2017

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Diversity of animal small RNA pathways and their biological utility

28 September 2017

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

28 September 2017

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

28 September 2017

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N- and C-terminal Upf1 phosphorylations create binding platforms for SMG-6 and SMG-5:SMG-7 during NMD

28 September 2017

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RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD.

28 September 2017

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Gene expression studies in autism: moving from the genome to the transcriptome and beyond

28 September 2017

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Out-of-frame T cell receptor beta transcripts are eliminated by multiple pathways in vivo

28 September 2017

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Influence of sex and genetic variability on expression of X-linked genes in human monocytes.

28 September 2017

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Inhibition of nonsense-mediated RNA decay by the tumor microenvironment promotes tumorigenesis

28 September 2017

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Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay

28 September 2017

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The exon junction complex differentially marks spliced junctions

28 September 2017

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Phenotypic variability and genetic susceptibility to genomic disorders

28 September 2017

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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

28 September 2017

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Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay

28 September 2017

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A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.

28 September 2017

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The exon junction complex component Magoh controls brain size by regulating neural stem cell division.

28 September 2017

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Nonsense-mediated RNA decay regulation by cellular stress: implications for tumorigenesis.

28 September 2017

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Gene expression networks: competing mRNA decay pathways in mammalian cells

28 September 2017

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Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Long 3'-UTRs target wild-type mRNAs for nonsense-mediated mRNA decay in Saccharomyces cerevisiae.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Introducing sense into nonsense in treatments of human genetic diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Inter-kingdom conservation of mechanism of nonsense-mediated mRNA decay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Hypoxic inhibition of nonsense-mediated RNA decay regulates gene expression and the integrated stress response

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Staufen1 regulates diverse classes of mammalian transcripts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

PTC124 targets genetic disorders caused by nonsense mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Mechanistic insights and identification of two novel factors in the C. elegans NMD pathway.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

An alternative branch of the nonsense-mediated decay pathway

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Nonsense-mediated mRNA decay factors act in concert to regulate common mRNA targets

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

SMG7 acts as a molecular link between mRNA surveillance and mRNA decay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Nonsense-mediated decay approaches the clinic

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Efficient downregulation of immunoglobulin mu mRNA with premature translation-termination codons requires the 5'-half of the VDJ exon

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Genome-wide analysis of mRNAs regulated by the nonsense-mediated and 5' to 3' mRNA decay pathways in yeast

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Boundary-independent polar nonsense-mediated decay

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

The Y14 protein communicates to the cytoplasm the position of exon-exon junctions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

smg-7 is required for mRNA surveillance in Caenorhabditis elegans.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

A new kind of informational suppression in the nematode Caenorhabditis elegans

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Gene products that promote mRNA turnover in Saccharomyces cerevisiae

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

An EJC factor RBM8a regulates anxiety behaviors.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

A UPF3-mediated regulatory switch that maintains RNA surveillance

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

The upstream open reading frame of the Arabidopsis AtMHX gene has a strong impact on transcript accumulation through the nonsense-mediated mRNA decay pathway

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

CBP80 promotes interaction of Upf1 with Upf2 during nonsense-mediated mRNA decay in mammalian cells.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Upf1p, a highly conserved protein required for nonsense-mediated mRNA decay, interacts with the nuclear pore proteins Nup100p and Nup116p

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4021004

A quality control pathway that down-regulates aberrant T-cell receptor (TCR) transcripts by a mechanism requiring UPF2 and translation

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24239855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CLIP-seq of eIF4AIII reveals transcriptome-wide mapping of the human exon junction complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/24239855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

mRNA surveillance by the Caenorhabditis elegans smg genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/24239855

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUBIOREV.2013.10.016

1 reference

1139213

1139213

1 reference

1 reference

1 reference