The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
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There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathThe ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune diseaseA Novel Protocol for Directed Differentiation of C9orf72-Associated Human Induced Pluripotent Stem Cells Into Contractile Skeletal Myotubes.Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patientsMolecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia.C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?RNA-protein interactions in unstable microsatellite diseases.The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disordersAberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.C9ORF72 expression and cellular localization over mouse development.C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic MiceMaturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytesGain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAsNucleocytoplasmic transport in C9orf72-mediated ALS/FTD.C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteinsMechanisms of toxicity in C9FTLD/ALS.Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.Selective vulnerability of motoneuron and perturbed mitochondrial calcium homeostasis in amyotrophic lateral sclerosis: implications for motoneurons specific calcium dysregulation.Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation.ALS: Recent Developments from Genetics Studies.ALS and FTD: an epigenetic perspective.Oligonucleotide therapies: the future of amyotrophic lateral sclerosis treatment?TBK1: a new player in ALS linking autophagy and neuroinflammation.C9orf72 is required for proper macrophage and microglial function in mice.Biological Spectrum of Amyotrophic Lateral Sclerosis Prions.Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS.Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers
P2860
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P2860
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
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2013 nî lūn-bûn
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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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name
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
@ast
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
@en
type
label
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
@ast
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
@en
prefLabel
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
@ast
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
@en
P2093
P2860
P356
P1433
P1476
The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD
@en
P2093
Asif M Maroof
Atsushi Intoh
Brandi N Davis-Dusenbery
Ian Armstrong
Kathryn Koszka
Kevin Eggan
Rob Moccia
P2860
P2888
P304
P356
10.1038/NN.3566
P407
P577
2013-11-03T00:00:00Z