Nonsense-mediated decay approaches the clinic (Q35851264)

10 August 2017

1 reference

title

Nonsense-mediated decay approaches the clinic (English)

1 reference

10 August 2017

3

1 reference

10 August 2017

Jill A Holbrook

1

1 reference

10 August 2017

Gabriele Neu-Yilik

series ordinal

2

1 reference

10 August 2017

Andreas E Kulozik

series ordinal

4

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 August 2004

1 reference

10 August 2017

1 reference

10 August 2017

36

1 reference

10 August 2017

801-808

1 reference

10 August 2017

8

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1403

10 August 2017

0 references

cites work

beta 0 thalassemia, a nonsense mutation in man

1 reference

7 January 2021

Interference of nonsense mutations with eukaryotic messenger RNA stability

1 reference

7 January 2021

Nonsense mutations in the alcohol dehydrogenase gene of Drosophila melanogaster correlate with an abnormal 3' end processing of the corresponding pre-mRNA.

1 reference

7 January 2021

mRNA surveillance by the Caenorhabditis elegans smg genes

1 reference

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

7 January 2021

The human intronless melanocortin 4-receptor gene is NMD insensitive

1 reference

7 January 2021

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

1 reference

7 January 2021

Splicing and 3' end formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Relationship between yeast polyribosomes and Upf proteins required for nonsense mRNA decay

1 reference

7 January 2021

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

1 reference

7 January 2021

Evidence that phosphorylation of human Upfl protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathway

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

1 reference

7 January 2021

New insights into the formation of active nonsense-mediated decay complexes.

1 reference

7 January 2021

The cycle of nonsense

1 reference

7 January 2021

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

1 reference

7 January 2021

Boundary-independent polar nonsense-mediated decay

1 reference

7 January 2021

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia

1 reference

7 January 2021

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

1 reference

7 January 2021

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

1 reference

7 January 2021

Stop making nonSense: the C. elegans smg genes

1 reference

7 January 2021

The Caenorhabditis elegans unc-49 locus encodes multiple subunits of a heteromultimeric GABA receptor.

1 reference

7 January 2021

The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decay

1 reference

7 January 2021

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

1 reference

7 January 2021

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

1 reference

7 January 2021

Competing Functions Encoded in the Allergy-Associated FcϵRIβ Gene

1 reference

7 January 2021

Nonsense surveillance in lymphocytes?

1 reference

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

7 January 2021

Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.

1 reference

7 January 2021

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.

1 reference

7 January 2021

Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues

1 reference

7 January 2021

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

1 reference

7 January 2021

Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes

1 reference

7 January 2021

Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons

1 reference

7 January 2021

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

7 January 2021

SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs

1 reference

7 January 2021

Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay

1 reference

7 January 2021

Functional conservation of the telomerase protein Est1p in humans

1 reference

7 January 2021

A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed

1 reference

7 January 2021

Nonsense-mediated mRNA decay: from vacuum cleaner to Swiss army knife

1 reference

7 January 2021

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

1 reference

7 January 2021

The host gene for intronic U17 small nucleolar RNAs in mammals has no protein-coding potential and is a member of the 5'-terminal oligopyrimidine gene family

1 reference

7 January 2021

A mammalian gene with introns instead of exons generating stable RNA products

1 reference

7 January 2021

Making sense of nonsense in yeast

1 reference

7 January 2021

Molecular basis for dominantly inherited inclusion body beta-thalassemia

1 reference

7 January 2021

Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

7 January 2021

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1 reference

7 January 2021

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

7 January 2021

mRNA and protein expression of p53 mutations in human bladder cancer cell lines

1 reference

7 January 2021

p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts

1 reference

7 January 2021

Mutant BRCA1 genes antagonize phenotype of wild-type BRCA1

1 reference

7 January 2021

Functional characterization in vivo of mutant p53 molecules derived from squamous cell carcinomas of the head and neck

1 reference

7 January 2021

WT1-mediated transcriptional activation is inhibited by dominant negative mutant proteins.

1 reference

7 January 2021

Truncated WT1 mutants alter the subnuclear localization of the wild-type protein

1 reference

7 January 2021

Alternative splicing of the p53 tumor suppressor gene in the Molt-4 T-lymphoblastic leukemia cell line

1 reference

7 January 2021

Zinc finger point mutations within the WT1 gene in Wilms tumor patients

1 reference

7 January 2021

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

1 reference

7 January 2021

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

1 reference

7 January 2021

Fidelity of the eukaryotic codon-anticodon interaction: interference by aminoglycoside antibiotics

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

1 reference

7 January 2021

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

1 reference

7 January 2021

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

1 reference

7 January 2021

Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo

1 reference

7 January 2021

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle

1 reference

7 January 2021

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

1 reference

7 January 2021

A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations

1 reference

7 January 2021

Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis

1 reference

7 January 2021

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

1 reference

7 January 2021

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A nuclear translation-like factor eIF4AIII is recruited to the mRNA during splicing and functions in nonsense-mediated decay

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1403

1 reference

Dimensions Publication ID

10 August 2017

0 references

1 reference