NMD: RNA biology meets human genetic medicine (Q37783315)

23 August 2017

NMD: RNA biology meets human genetic medicine (English)

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23 August 2017

3

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23 August 2017

Anna Melissa Schlitter

series ordinal

2

object named as

Anna M Schlitter

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23 August 2017

Madhuri Bhuvanagiri

1

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23 August 2017

Andreas E Kulozik

series ordinal

4

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23 August 2017

language of work or name

English

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publication date

1 September 2010

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23 August 2017

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23 August 2017

430

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23 August 2017

3

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23 August 2017

365-377

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A perfect message: RNA surveillance and nonsense-mediated decay

23 August 2017

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense-mediated decay approaches the clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The multiple lives of NMD factors: balancing roles in gene and genome regulation

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense-mediated mRNA decay in health and disease

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense surveillance in lymphocytes?

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Binary specification of nonsense codons by splicing and cytoplasmic translation

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The ever-increasing complexities of the exon junction complex

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Characterization of the biochemical properties of the human Upf1 gene product that is involved in nonsense-mediated mRNA decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Y14 and hUpf3b form an NMD-activating complex

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

A UPF3-mediated regulatory switch that maintains RNA surveillance

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

SMG-5, required for C.elegans nonsense-mediated mRNA decay, associates with SMG-2 and protein phosphatase 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

TPR proteins: the versatile helix

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

PIN domains in nonsense-mediated mRNA decay and RNAi

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Structures of the PIN domains of SMG6 and SMG5 reveal a nuclease within the mRNA surveillance complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The human intronless melanocortin 4-receptor gene is NMD insensitive

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

eIF4AIII binds spliced mRNA in the exon junction complex and is essential for nonsense-mediated decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Internal ribosome entry sequence-mediated translation initiation triggers nonsense-mediated decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Disassembly of exon junction complexes by PYM

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The role of Upf proteins in modulating the translation read-through of nonsense-containing transcripts

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

EJC-independent degradation of nonsense immunoglobulin-mu mRNA depends on 3' UTR length.

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

An alternative branch of the nonsense-mediated decay pathway

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Poly(A)-binding proteins: multifunctional scaffolds for the post-transcriptional control of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

The eukaryotic polypeptide chain releasing factor (eRF3/GSPT) carrying the translation termination signal to the 3'-Poly(A) tail of mRNA. Direct association of erf3/GSPT with polyadenylate-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Poly(A)-binding protein and eRF3 are associated in vivo in human and Xenopus cells

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

A conserved role for cytoplasmic poly(A)-binding protein 1 (PABPC1) in nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Early nonsense: mRNA decay solves a translational problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense-mediated mRNA decay in Drosophila: at the intersection of the yeast and mammalian pathways

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

mRNA surveillance of expressed pseudogenes in C. elegans.

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Yeast Upf proteins required for RNA surveillance affect global expression of the yeast transcriptome

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense-mediated mRNA decay: target genes and functional diversification of effectors

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Selenium deficiency reduces the abundance of mRNA for Se-dependent glutathione peroxidase 1 by a UGA-dependent mechanism likely to be nonsense codon-mediated decay of cytoplasmic mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Translational control during amino acid starvation

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The pioneer translation initiation complex is functionally distinct from but structurally overlaps with the steady-state translation initiation complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

The double life of UPF1 in RNA and DNA stability pathways

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Impact of nonsense-mediated mRNA decay on the global expression profile of budding yeast

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

mRNAs encoding telomerase components and regulators are controlled by UPF genes in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

DNA-activated protein kinase functions in a newly observed S phase checkpoint that links histone mRNA abundance with DNA replication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Functions of the nonsense-mediated mRNA decay pathway in Drosophila development

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Arabidopsis UPF1 RNA helicase for nonsense-mediated mRNA decay is involved in seed size control and is essential for growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Nonsense-mediated mRNA decay effectors are essential for zebrafish embryonic development and survival

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Molecular basis for dominantly inherited inclusion body beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Genetics, pathology, and clinics of familial gastric cancer

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Introducing sense into nonsense in treatments of human genetic diseases

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Comparison of X-ray crystal structure of the 30S subunit-antibiotic complex with NMR structure of decoding site oligonucleotide-paromomycin complex

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Crystal structure of paromomycin docked into the eubacterial ribosomal decoding A site

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3- secretion in cystic fibrosis bile ductular cells

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Construction of a functional human suppressor tRNA gene: an approach to gene therapy for beta-thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1042%2FBJ20100699

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

The phenotypic consequences of CFTR mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

PAX6 mutations: genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism

21 January 2018

1 reference

https://api.crossref.org/works/10.1042%2FBJ20100699

21 January 2018

Identifiers

DOI

10.1042/BJ20100699

1 reference

23 August 2017

1 reference