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Mutations of optineurin in amyotrophic lateral sclerosis

Mutations of optineurin in amyotrophic lateral sclerosis

http://www.wikidata.org/entity/Q29614836

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Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseases The heritability of amyotrophic lateral sclerosis in a clinically ascertained United States research registry Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis Interaction between optineurin and the bZIP transcription factor NRL Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS From animal models to human disease: a genetic approach for personalized medicine in ALS Recent advances in amyotrophic lateral sclerosis Toward precision medicine in amyotrophic lateral sclerosis Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron Degeneration Genotype-phenotype correlations of amyotrophic lateral sclerosis Parkin Regulation and Neurodegenerative Disorders Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles TNF biology, pathogenic mechanisms and emerging therapeutic strategies Ultrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesis Clinical and genetic basis of familial amyotrophic lateral sclerosis Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS Molecular motor proteins and amyotrophic lateral sclerosis Transplantation of stem cell-derived astrocytes for the treatment of amyotrophic lateral sclerosis and spinal cord injury Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis State of play in amyotrophic lateral sclerosis genetics Sumoylation of critical proteins in amyotrophic lateral sclerosis: emerging pathways of pathogenesis Autophagy and neurodegeneration Functional analysis of optineurin and some of its disease-associated mutants Therapeutic targeting of autophagy in neurodegenerative and infectious diseases Redox regulation in amyotrophic lateral sclerosis RNA-Seq profiling of spinal cord motor neurons from a presymptomatic SOD1 ALS mouse Hyperphosphorylation as a defense mechanism to reduce TDP-43 aggregation Loss of optineurin in vivo results in elevated cell death and alters axonal trafficking dynamics Mitochondrial pathogenic mechanism and degradation in optineurin E50K mutation-mediated retinal ganglion cell degeneration Inhibitory synaptic regulation of motoneurons: a new target of disease mechanisms in amyotrophic lateral sclerosis.The GARP complex is required for cellular sphingolipid homeostasis.Sending Out an SOS: Mitochondria as a Signaling Hub

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Mutations of optineurin in amyotrophic lateral sclerosis

http://www.wikidata.org/entity/Q29614836

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2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Mutations of optineurin in amyotrophic lateral sclerosis

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Mutations of optineurin in amyotrophic lateral sclerosis

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type

label

Mutations of optineurin in amyotrophic lateral sclerosis

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Mutations of optineurin in amyotrophic lateral sclerosis

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prefLabel

Mutations of optineurin in amyotrophic lateral sclerosis

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Mutations of optineurin in amyotrophic lateral sclerosis

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Mutations of optineurin in amyotrophic lateral sclerosis

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Akihiro Kawata

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Asao Hirano

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Hidefumi Ito

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Hidemasa Kato

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Hidenori Suzuki

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Hirofumi Kusaka

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

Hiroyuki Nodera

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Kazumasa Ogasawara

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

Keitaro Kobatake

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

Koichi Hagiwara

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

P2860

Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis

Ubiquitin binding mediates the NF-kappaB inhibitory potential of ABIN proteins

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis

Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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223-226

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144399

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10.1038/NATURE08971

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7295

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465

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Hirofumi Maruyama

Shinya Matsuura

Hideshi Kawakami

Hiroyuki Morino

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2010-04-28T00:00:00Z

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43352121

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1017036214

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20428114

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amyotrophic lateral sclerosis