The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs - Test2 - elhamkhani - TriplyDB

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis Discovery of new Longin and Roadblock domains that form platforms for small GTPases in Ragulator and TRAPP-II C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and Autophagy A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During Disease A perspective on stem cell modeling of amyotrophic lateral sclerosis RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis Beyond indigestion: emerging roles for lysosome-based signaling in human disease Drosophila as an In Vivo Model for Human Neurodegenerative Disease The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding A two-hybrid screen identifies an unconventional role for the intermediate filament peripherin in regulating the subcellular distribution of the SNAP25-interacting protein, SIP30 Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy The 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 Signaling C9orf72 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 disease Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis Molecular 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 C9ORF72 Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

http://www.wikidata.org/entity/Q24622048

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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

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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

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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

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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

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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

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The product of C9orf72, a gene ...... rally related to DENN Rab-GEFs

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Alberto T Gatta

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

Louise H Wong

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

Matthew J Hayes

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

Rachel D Daniels

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

Timothy P Levine

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

P2860

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells

Network organization of the human autophagy system

The HHpred interactive server for protein homology detection and structure prediction

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons

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499-503

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10.1093/BIOINFORMATICS/BTS725

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4

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29

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234161750

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23329412

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3570213

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