Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. - Wikidata - awgldk - TriplyDB

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

http://www.wikidata.org/entity/Q42925023

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Inside out: the role of nucleocytoplasmic transport in ALS and FTLD There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Dysregulated axonal RNA translation in amyotrophic lateral sclerosis Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles ALS Patient Stem Cells for Unveiling Disease Signatures of Motoneuron Susceptibility: Perspectives on the Deadly Mitochondria, ER Stress and Calcium Triad Architecture of the symmetric core of the nuclear pore Drosophila as an In Vivo Model for Human Neurodegenerative Disease Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration Are aberrant phase transitions a driver of cellular aging?Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers.Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis.Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.Altered nucleocytoplasmic proteome and transcriptome distributions in an in vitro model of amyotrophic lateral sclerosis Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus.Loss of Ranbp2 in motoneurons causes disruption of nucleocytoplasmic and chemokine signaling, proteostasis of hnRNPH3 and Mmp28, and development of amyotrophic lateral sclerosis-like syndromes Modelling amyotrophic lateral sclerosis: progress and possibilities A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha Dysregulation of RNA Binding Protein Aggregation in Neurodegenerative Disorders.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.TDP-43 and FUS en route from the nucleus to the cytoplasm.ALS biomarkers for therapy development: State of the field and future directions.GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Nucleocytoplasmic transport in C9orf72-mediated ALS/FTD.Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways Forward Genetic Screen in Caenorhabditis elegans Suggests F57A10.2 and acp-4 As Suppressors of C9ORF72 Related Phenotypes.

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P2860

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

http://www.wikidata.org/entity/Q42925023

description

2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Modifiers of C9orf72 dipeptide ...... transport defects to FTD/ALS.

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Modifiers of C9orf72 dipeptide ...... transport defects to FTD/ALS.

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type

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Modifiers of C9orf72 dipeptide ...... transport defects to FTD/ALS.

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Modifiers of C9orf72 dipeptide ...... transport defects to FTD/ALS.

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prefLabel

Modifiers of C9orf72 dipeptide ...... transport defects to FTD/ALS.

@en

Modifiers of C9orf72 dipeptide ...... transport defects to FTD/ALS.

@nl

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Nature Neuroscience

P1476

Modifiers of C9orf72 dipeptide ...... c transport defects to FTD/ALS

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Aaron D Gitler

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

Ana Jovičić

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

Elke Bogaert

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

Fred H Gage

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

Gregor Bieri

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

Joseph R Herdy

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

Joseph W Paul

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

Noori Chai

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

Shizuka B Yamada

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

Shuying Sun

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

P2860

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

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

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

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

Systematic genetic analysis with ordered arrays of yeast deletion mutants

A strategy for extracting and analyzing large-scale quantitative epistatic interaction data.

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS

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1226-1229

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scholarly article

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10.1038/NN.4085

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9

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18

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Ludo Van Den Bosch

Nicholas J Kramer

Steven Boeynaems

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2015-09-01T00:00:00Z

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1037662758

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26308983

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amyotrophic lateral sclerosis

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4552077

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