Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. - Wikidata - awgldk - TriplyDB

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

http://www.wikidata.org/entity/Q35063153

about

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD Architecture of the symmetric core of the nuclear pore THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis.GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.Cytoplasmic hGle1A regulates stress granules by modulation of translation.Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.TDP-43 and FUS en route from the nucleus to the cytoplasm.A role for Gle1, a regulator of DEAD-box RNA helicases, at centrosomes and basal bodies Control of mammalian gene expression by selective mRNA export.Mutant Huntingtin Disrupts the Nuclear Pore Complex.Nucleoporin genes in human diseases.Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia.ALS: Recent Developments from Genetics Studies.Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.Integration of mRNP formation and export.Structure and Function of the Nuclear Pore Complex Cytoplasmic mRNA Export Platform.Calpain-dependent disruption of nucleo-cytoplasmic transport in ALS motor neurons.Chronically stressed or stress-preconditioned neurons fail to maintain stress granule assembly.An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.Age-Dependent TDP-43-Mediated Motor Neuron Degeneration Requires GSK3, hat-trick, and xmas-2.TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.Artificial intelligence in neurodegenerative disease research: use of IBM Watson to identify additional RNA-binding proteins altered in amyotrophic lateral sclerosis.ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases.The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.Nup42 and IP6 coordinate Gle1 stimulation of Dbp5/DDX19B for mRNA export in yeast and human cells.RNA Nuclear Export: From Neurological Disorders to Cancer.Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.Gle1 regulates RNA binding of the DEAD-box helicase Ded1 in its complex role in translation initiation.Ageing as a risk factor for ALS/FTD.MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport.Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.Structural and functional analysis of mRNA export regulation by the nuclear pore complex.Depletion of mRNA export regulator DBP5/DDX19, GLE1 or IPPK that is a key enzyme for the production of IP6, resulting in differentially altered cytoplasmic mRNA expression and specific cell defect.

P2860

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P2860

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

http://www.wikidata.org/entity/Q35063153

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

@zh-hk

2014年論文

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2014年論文

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2014年论文

@wuu

name

Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

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Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

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type

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Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

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Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

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prefLabel

Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

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Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

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P1433

Human Molecular Genetics

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Deleterious mutations in the e ...... amyotrophic lateral sclerosis.

@en

P2093

Andrew W Folkmann

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

Anna Szuto

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

Anne Noreau

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

Annie Levert

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

Catherine André-Guimont

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

Claire S Leblond

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

Daniel Rochefort

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

Hannah M Kaneb

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

Hussein Daoud

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

Li-En Jao

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

P2860

Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease

The mRNA export factor Gle1 and inositol hexakisphosphate regulate distinct stages of translation

Interaction between the shuttling mRNA export factor Gle1 and the nucleoporin hCG1: a conserved mechanism in the export of Hsp70 mRNA.

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

An essential role for hGle1 nucleocytoplasmic shuttling in mRNA export.

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Control of mRNA export and translation termination by inositol hexakisphosphate requires specific interaction with Gle1.

The Snf1 protein kinase and its activating subunit, Snf4, interact with distinct domains of the Sip1/Sip2/Gal83 component in the kinase complex.

Genomic libraries and a host strain designed for highly efficient two-hybrid selection in yeast

The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155

P304

1363-1373

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scholarly article

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10.1093/HMG/DDU545

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5

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24

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Jean-Pierre Bouchard

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2014-10-24T00:00:00Z

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267747273

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25343993

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P921

amyotrophic lateral sclerosis

P932

4321443

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