De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. - Wikidata - wikimedia - TriplyDB

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

http://www.wikidata.org/entity/Q34070072

about

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import State of play in amyotrophic lateral sclerosis genetics The complex molecular biology of amyotrophic lateral sclerosis (ALS)FUS is phosphorylated by DNA-PK and accumulates in the cytoplasm after DNA damage Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules Knockdown of the Drosophila fused in sarcoma (FUS) homologue causes deficient locomotive behavior and shortening of motoneuron terminal branches.Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Nuclear localization sequence of FUS and induction of stress granules by ALS mutants.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?A fruitful endeavor: modeling ALS in the fruit fly ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism.Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS CRESTing the ALS mountain Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function.Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis.De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules Minor intron splicing is regulated by FUS and affected by ALS-associated FUS mutants Clinical neurogenetics: amyotrophic lateral sclerosis.FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.Proteostasis and movement disorders: Parkinson's disease and amyotrophic lateral sclerosis.RNA-binding proteins with prion-like domains in ALS and FTLD-U.Progranulin axis and recent developments in frontotemporal lobar degeneration Clinical and genetic heterogeneity of amyotrophic lateral sclerosis.TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.The role of FUS gene variants in neurodegenerative diseases.Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.RNA-binding proteins as molecular links between cancer and neurodegeneration.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

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P2860

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

http://www.wikidata.org/entity/Q34070072

description

2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

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De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

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De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

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type

label

De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

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De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

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De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

@nl

prefLabel

De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

@ast

De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

@en

De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

@nl

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De novo truncating FUS gene mu ...... amyotrophic lateral sclerosis.

@en

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Aleksandra Wojtas

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Amelia Johnston

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Jannet Kocerha

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Kathleen Kennelly

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Kevin Boylan

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Matt Baker

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Neill Graff-Radford

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NiCole Finch

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Nicola Rutherford

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Pamela Desaro

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P2860

Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing

Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma

MUSCLE: multiple sequence alignment with high accuracy and high throughput

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

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

Human 75-kDa DNA-pairing protein is identical to the pro-oncoprotein TLS/FUS and is able to promote D-loop formation

Involvement of the pro-oncoprotein TLS (translocated in liposarcoma) in nuclear factor-kappa B p65-mediated transcription as a coactivator

Proto-oncoprotein TLS/FUS is associated to the nuclear matrix and complexed with splicing factors PTB, SRm160, and SR proteins

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

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

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10.1002/HUMU.21241

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5

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31

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Rosa Rademakers

Mariely DeJesus-Hernandez

Zbigniew K Wszolek

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2010-05-01T00:00:00Z

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41970075

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20232451

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amyotrophic lateral sclerosis

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2922682

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