The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
about
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingRNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense interventionC9orf72 expansions are the most common genetic cause of Huntington disease phenocopiesUnconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALSThere has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSGolgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport VesiclesAutophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALSPathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisDiscovery of new Longin and Roadblock domains that form platforms for small GTPases in Ragulator and TRAPP-IIC9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and AutophagyA Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During DiseaseA perspective on stem cell modeling of amyotrophic lateral sclerosisRNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosisBeyond indigestion: emerging roles for lysosome-based signaling in human diseaseDrosophila as an In Vivo Model for Human Neurodegenerative DiseaseThe FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug bindingA two-hybrid screen identifies an unconventional role for the intermediate filament peripherin in regulating the subcellular distribution of the SNAP25-interacting protein, SIP30Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulatorLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathA C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagyThe ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB SignalingC9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.DENND2B activates Rab13 at the leading edge of migrating cells and promotes metastatic behavior.Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune diseaseBioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumHippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansionTargeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansionC9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysisMolecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia.The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?RNA-protein interactions in unstable microsatellite diseases.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegansThe Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.
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P2860
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
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2013 nî lūn-bûn
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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
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2013 թվականի փետրվարին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@ast
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@en
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
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The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@ast
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@en
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@nl
prefLabel
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@ast
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@en
The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@nl
P2093
P2860
P3181
P356
P1433
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The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs
@en
P2093
Alberto T Gatta
Louise H Wong
Matthew J Hayes
Rachel D Daniels
Timothy P Levine
P2860
P304
P3181
P356
10.1093/BIOINFORMATICS/BTS725
P407
P577
2013-02-15T00:00:00Z