Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 - Wikidata - awgldk - TriplyDB

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

http://www.wikidata.org/entity/Q28236805

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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion Military service, deployments, and exposures in relation to amyotrophic lateral sclerosis etiology and survival Treatment for familial amyotrophic lateral sclerosis/motor neuron disease Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Dynamics of axonal mRNA transport and implications for peripheral nerve regeneration Altered ribostasis: RNA-protein granules in degenerative disorders Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis Integrative analysis of the melanoma transcriptome Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Cholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72 Exome sequencing reveals VCP mutations as a cause of familial ALS Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD The pathobiology of splicing Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS A new subtype of frontotemporal lobar degeneration with FUS pathology TLS inhibits RNA polymerase III transcription From animal models to human disease: a genetic approach for personalized medicine in ALS The hnRNP family: insights into their role in health and disease Inside out: the role of nucleocytoplasmic transport in ALS and FTLD Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis Recent advances in amyotrophic lateral sclerosis Quo vadis motor neuron disease?Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease Toward precision medicine in amyotrophic lateral sclerosis Immunoprecipitation and mass spectrometry defines an extensive RBM45 protein-protein interaction network FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium Triad Alterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?RNA-Binding Proteins in the Regulation of miRNA Activity: A Focus on Neuronal Functions

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

http://www.wikidata.org/entity/Q28236805

description

2009 nî lūn-bûn

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2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2009 թվականի փետրվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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type

label

Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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prefLabel

Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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SCIENCE.1165942

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Mutations in FUS, an RNA proce ...... ophic lateral sclerosis type 6

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Deborah Ruddy

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Garth Nicholson

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Jackie de Belleroche

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Jeban Ganesalingam

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Jemeen Sreedharan

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P Nigel Leigh

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Safa Al-Saraj

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Tibor Hortobágyi

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Vineeta Tripathi

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Xun Hu

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P2860

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

TLS, EWS and TAF15: a model for transcriptional integration of gene expression

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Role of axonal transport in neurodegenerative diseases

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kinesin transports RNA: isolation and characterization of an RNA-transporting granule

Onset and progression in inherited ALS determined by motor neurons and microglia

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

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10.1126/SCIENCE.1165942

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5918

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323

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Ammar Al-Chalabi

Agnes Lumi Nishimura

Bradley N. Smith

Kelly L Williams

Christopher C. Miller

Jean-Marc Gallo

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2009-02-01T00:00:00Z

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24146166

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amyotrophic lateral sclerosis

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