Translation matters: protein synthesis defects in inherited disease - Test2 - elhamkhani - TriplyDB

Translation matters: protein synthesis defects in inherited disease

Translation matters: protein synthesis defects in inherited disease

http://www.wikidata.org/entity/Q28239576

about

Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease Transformation of eEF1Bδ into heat-shock response transcription factor by alternative splicing Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study Upstream open reading frames: molecular switches in (patho)physiology Ribosome-based quality control of mRNA and nascent peptides Ribosome-associated protein quality control Specificity and nonspecificity in RNA-protein interactions Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Cell growth control by stable Rbg2/Gir2 complex formation under amino acid starvation.The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.Translation initiation requires cell division cycle 123 (Cdc123) to facilitate biogenesis of the eukaryotic initiation factor 2 (eIF2).Translation initiator EIF4G1 mutations in familial Parkinson disease Posttranscriptional regulation of p53 and its targets by RNA-binding proteins Trailing TRAIL Resistance: Novel Targets for TRAIL Sensitization in Cancer Cells Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability Accounting for biases in riboprofiling data indicates a major role for proline in stalling translation.Combining RNA and protein profiling data with network interactions identifies genes associated with spermatogenesis in mouse and human.The ribosomal protein Rpl22 controls ribosome composition by directly repressing expression of its own paralog, Rpl22l1 Translational control of gene expression in the gonadotrope C/EBPbetaDeltauORF mice--a genetic model for uORF-mediated translational control in mammals.Discovering gene functional relationships using FAUN (Feature Annotation Using Nonnegative matrix factorization).Omacetaxine: a protein translation inhibitor for treatment of chronic myelogenous leukemia Functional significance for a heterogenous ribonucleoprotein A18 signature RNA motif in the 3'-untranslated region of ataxia telangiectasia mutated and Rad3-related (ATR) transcript.The notorious R.N.A. in the spotlight - drug or target for the treatment of disease A novel target of action of minocycline in NGF-induced neurite outgrowth in PC12 cells: translation initiation [corrected] factor eIF4AI.Visualizing high error levels during gene expression in living bacterial cells.Evolution of alternative splicing in primate brain transcriptomes.Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene Role of 5'- and 3'-untranslated regions of mRNAs in human diseases.Annexin A2 binds RNA and reduces the frameshifting efficiency of infectious bronchitis virus.TOR signaling never gets old: aging, longevity and TORC1 activity.Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia Widespread establishment and regulatory impact of Alu exons in human genes.Broad-specificity mRNA-rRNA complementarity in efficient protein translation.Low level genome mistranslations deregulate the transcriptome and translatome and generate proteotoxic stress in yeast.Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Polysome profiling in liver identifies dynamic regulation of endoplasmic reticulum translatome by obesity and fasting.

P2860

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P2860

Translation matters: protein synthesis defects in inherited disease

http://www.wikidata.org/entity/Q28239576

description

2007 nî lūn-bûn

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2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Translation matters: protein synthesis defects in inherited disease

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Translation matters: protein synthesis defects in inherited disease

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Translation matters: protein synthesis defects in inherited disease

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type

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Translation matters: protein synthesis defects in inherited disease

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Translation matters: protein synthesis defects in inherited disease

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Translation matters: protein synthesis defects in inherited disease

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Translation matters: protein synthesis defects in inherited disease

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Translation matters: protein synthesis defects in inherited disease

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Nature Reviews Genetics

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Translation matters: protein synthesis defects in inherited disease

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P2093

Gert C Scheper

http://www.w3.org/2001/XMLSchema#string

Marjo S van der Knaap

http://www.w3.org/2001/XMLSchema#string

P2860

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

P2888

P304

711-23

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scholarly article

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3621372

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10.1038/NRG2142

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P433

9

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P478

8

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Christopher G. Proud

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2007-09-01T00:00:00Z

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6159481

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1003445704

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17680008

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