Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients - Wikidata - awgldk - TriplyDB

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

http://www.wikidata.org/entity/Q34766957

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Toward precision medicine in amyotrophic lateral sclerosis Frontotemporal dementia: a bridge between dementia and neuromuscular disease Engineering enhanced protein disaggregases for neurodegenerative disease 12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats Ataxin-2 modulates the levels of Grb2 and SRC but not ras signaling.Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies.The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases Ataxin-2 repeat-length variation and neurodegeneration Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis.Amyotrophic lateral sclerosis: update and new developments.Endogenous TDP-43, but not FUS, contributes to stress granule assembly via G3BP Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions.De novo mutations in ataxin-2 gene and ALS risk.Clinical neurogenetics: amyotrophic lateral sclerosis.ATXN2 trinucleotide repeat length correlates with risk of ALS.Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.RNA-binding proteins with prion-like domains in ALS and FTLD-U.Using yeast models to probe the molecular basis of amyotrophic lateral sclerosis.Local RNA translation at the synapse and in disease.Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.Amyotrophic lateral sclerosis: an update on recent genetic insights.Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.Ataxin-2 (Atxn2)-Knock-Out Mice Show Branched Chain Amino Acids and Fatty Acids Pathway Alterations.The Multiple Faces of Spinocerebellar Ataxia type 2.Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation.Retinal thinning in amyotrophic lateral sclerosis patients without ophthalmic disease.Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

http://www.wikidata.org/entity/Q34766957

description

2011 nî lūn-bûn

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2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2011 թվականի փետրվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Human Molecular Genetics

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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

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Aaron D Gitler

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Georg Auburger

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Markus Weber

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Nancy M Bonini

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Ole Gredal

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Peter M Andersen

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Suzana Gispert

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Teresa Lee

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Thomas Meyer

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Torsten Grehl

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P2860

A novel protein with RNA-binding motifs interacts with ataxin-2

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Exome sequencing reveals VCP mutations as a cause of familial ALS

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1

dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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1697-1700

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10.1093/HMG/DDR045

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9

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20

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Ole-Bjørn Tysnes

Mamede de Carvalho

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2011-02-03T00:00:00Z

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49809262

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21292779

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amyotrophic lateral sclerosis

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3071667

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