C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice. - Wikidata - awgldk - TriplyDB

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

http://www.wikidata.org/entity/Q36691051

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There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS 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.Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Motor neuron vulnerability and resistance in amyotrophic lateral sclerosis.Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture.Loss of C9orf72 function leads to autoimmunity Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Decoding ALS: from genes to mechanism.C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.New developments in RAN translation: insights from multiple diseases.Multifaceted role of SMCR8 as autophagy regulator.Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia.RNA Misprocessing in C9orf72-Linked Neurodegeneration.The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.New insights into SMA pathogenesis: immune dysfunction and neuroinflammation.The Enigmatic Role of C9ORF72 in Autophagy Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects.Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis.Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD.Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.Differential contribution of microglia and monocytes in neurodegenerative diseases.mRNP assembly, axonal transport, and local translation in neurodegenerative diseases.Genetics: The hexanucleotide hex.Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy.Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

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C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

http://www.wikidata.org/entity/Q36691051

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C9orf72 ablation causes immune ...... glomerulonephropathy in mice.

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C9orf72 ablation causes immune ...... glomerulonephropathy in mice.

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Scientific Reports

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C9orf72 ablation causes immune ...... d glomerulonephropathy in mice

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Adelekan Oyejide

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Amanda Atanasio

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Brian Zambrowicz

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Chia-Jen Siao

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David Valenzuela

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Derek White

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Elizabeth LaRosa

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George Yancopoulos

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Gregg Warshaw

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P2860

Disturbances of apoptotic cell clearance in systemic lupus erythematosus

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

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

A review for solitary plasmacytoma of bone and extramedullary plasmacytoma

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

Role of autophagy in immunity and autoimmunity, with a special focus on systemic lupus erythematosus

Neuropsychiatric lupus: a mosaic of clinical presentations

No benefit from chronic lithium dosing in a sibling-matched, gender balanced, investigator-blinded trial using a standard mouse model of familial ALS

High-throughput engineering of the mouse genome coupled with high-resolution expression analysis

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10.1038/SREP23204

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6

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Andrew J Murphy

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2016-03-16T00:00:00Z

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298734321

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