C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
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From animal models to human disease: a genetic approach for personalized medicine in ALSInside out: the role of nucleocytoplasmic transport in ALS and FTLDQuo vadis motor neuron disease?There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSNeurodegenerative diseases: expanding the prion conceptNew insights into nucleolar structure and functionReversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.Impaired neurodevelopment by the low complexity domain of CPEB4 reveals a convergent pathway with neurodegeneration.C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and AutophagyTDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Non-coding RNA in neural function, disease, and agingEmerging mechanisms of molecular pathology in ALSRNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosisG-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptomeDrosophila as an In Vivo Model for Human Neurodegenerative DiseaseGlycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegenerationLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathInitiation of Quality Control during Poly(A) Translation Requires Site-Specific Ribosome UbiquitinationA C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagyLoss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB SignalingC9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein depositionToxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers.Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degenerationC9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Modelling amyotrophic lateral sclerosis: progress and possibilitiesPoly-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 DementiaSRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndromeHypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Opposing roles of p38 and JNK in a Drosophila model of TDP-43 proteinopathy reveal oxidative stress and innate immunity as pathogenic components of neurodegeneration.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.A fruitful endeavor: modeling ALS in the fruit flyLinking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 07 August 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
C9orf72 repeat expansions caus ...... through arginine-rich proteins
@en
C9orf72 repeat expansions caus ...... hrough arginine-rich proteins.
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type
label
C9orf72 repeat expansions caus ...... through arginine-rich proteins
@en
C9orf72 repeat expansions caus ...... hrough arginine-rich proteins.
@nl
prefLabel
C9orf72 repeat expansions caus ...... through arginine-rich proteins
@en
C9orf72 repeat expansions caus ...... hrough arginine-rich proteins.
@nl
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C9orf72 repeat expansions caus ...... through arginine-rich proteins
@en
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Adrian M Isaacs
Andrew J Nicoll
Charlotte E Ridler
Elizabeth M C Fisher
Frances E Norona
Jacqueline Dols
Julian Pietrzyk
Karen Cleverley
Melissa Cabecinha
Oliver Hendrich
P2860
P304
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10.1126/SCIENCE.1256800
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P50
P577
2014-08-07T00:00:00Z