The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. - Wikidata - wikimedia - TriplyDB

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

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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 The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine 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 Ribosomal frameshifting and transcriptional slippage: From genetic steganography and cryptography to adventitious use Architecture of the symmetric core of the nuclear pore Defective control of pre-messenger RNA splicing in human disease 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 Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.RNA phase transitions in repeat expansion disorders.Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition A Novel Protocol for Directed Differentiation of C9orf72-Associated Human Induced Pluripotent Stem Cells Into Contractile Skeletal Myotubes.Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis.Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis.Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 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.The tyrosine kinase receptor Tyro3 enhances lifespan and neuropeptide Y (Npy) neuron survival in the mouse anorexia (anx) mutation.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 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 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.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 Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8•(GGCCCC)8 repeat: effect of CpG methylation.

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

http://www.wikidata.org/entity/Q29871482

description

2015 nî lūn-bûn

@nan

2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

@ast

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

@en

type

label

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

@ast

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

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prefLabel

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

@ast

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

@en

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Aaron R Haeusler

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

Ingie Hong

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

James B Machamer

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

Jeffrey D Rothstein

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

Jiou Wang

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

Jonathan C Grima

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

Ke Zhang

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

Lyle W Ostrow

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

Michael A Thomas

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

Peter Steinwald

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

P2860

Human RanGTPase-activating protein RanGAP1 is a homologue of yeast Rna1p involved in mRNA processing and transport

NTF2 mediates nuclear import of Ran.

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

RanGAP1 induces GTPase activity of nuclear Ras-related Ran

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

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10.1038/NATURE14973

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7567

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525

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Michael J. Matunis

Thomas E. Lloyd

Christopher Donnelly

Kathleen M Cunningham

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2015-08-26T00:00:00Z

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1050532957

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26308891

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Ran GTPase activating protein 1

RAN, member RAS oncogene family

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4800742

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