Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
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Inside out: the role of nucleocytoplasmic transport in ALS and FTLDRecent advances in amyotrophic lateral sclerosisImpaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron DegenerationThe Function of Autophagy in Neurodegenerative DiseasesExpanding the ubiquitin code through post-translational modificationBrain-Specific Cytoskeletal Damage Markers in Cerebrospinal Fluid: Is There a Common Pattern between Amyotrophic Lateral Sclerosis and Primary Progressive Multiple Sclerosis?Analysis of protein-coding genetic variation in 60,706 humansTherapeutic targeting of autophagy in neurodegenerative and infectious diseasesThe TBK1-binding domain of optineurin promotes type I interferon responsesDynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagyLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathFrontotemporal Dementia.Charting Frontotemporal Dementia: From Genes to Networks.Neuroinflammation - using big data to inform clinical practice.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosisProtein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumModelling amyotrophic lateral sclerosis: progress and possibilitiesIdentification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.Optineurin regulates the interferon response in a cell cycle-dependent mannerWhole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.SQSTM1 Mutations and Glaucoma.The PINK1-PARKIN Mitochondrial Ubiquitylation Pathway Drives a Program of OPTN/NDP52 Recruitment and TBK1 Activation to Promote MitophagyLoss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutaseGenome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD.Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria.Mechanisms of Selective Autophagy in Normal Physiology and CancerSemantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathwaysDefective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD.Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture.Tdp-43 cryptic exons are highly variable between cell types.PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?
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P2860
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
description
2015 nî lūn-bûn
@nan
2015 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@ast
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en-gb
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@nl
type
label
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@ast
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en-gb
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@nl
prefLabel
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@ast
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en-gb
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@nl
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P2860
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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
@en
P2093
Alexander E Volk
Andrea S Winkler
Annemarie Hübers
Axel Freischmidt
Benjamin Richter
Claude Desnuelle
Elisabeth Graf
Emilien Bernard
Frida Nordin
Jochen H Weishaupt
P2860
P2888
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P356
10.1038/NN.4000
P407
P50
P577
2015-05-01T00:00:00Z
P6179
1012262606