Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. - Wikidata - wikimedia - TriplyDB

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

http://www.wikidata.org/entity/Q35752114

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Recent advances in amyotrophic lateral sclerosis Expanding the ubiquitin code through post-translational modification Therapeutic targeting of autophagy in neurodegenerative and infectious diseases Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death Frontotemporal Dementia.Charting Frontotemporal Dementia: From Genes to Networks.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.Genetics and ALS: Cause for Optimism.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.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.Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria.Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture.Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.Iron and Neurodegeneration: Is Ferritinophagy the Link?New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.Genetics of FTLD: overview and what else we can expect from genetic studies.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.ALS: Recent Developments from Genetics Studies.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Human TBK1: A Gatekeeper of Neuroinflammation Further development of biomarkers in amyotrophic lateral sclerosis.Review: Induced pluripotent stem cell models of frontotemporal dementia.Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation.What we know about TMEM106B in neurodegeneration.TBK1: a new player in ALS linking autophagy and neuroinflammation.LRRK2 and the Immune System.Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia.TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

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Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

http://www.wikidata.org/entity/Q35752114

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Whole-genome sequencing reveal ...... without motor neuron disease.

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Whole-genome sequencing reveal ...... without motor neuron disease.

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Whole-genome sequencing reveal ...... without motor neuron disease.

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Whole-genome sequencing reveal ...... without motor neuron disease.

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Whole-genome sequencing reveal ...... without motor neuron disease.

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Whole-genome sequencing reveal ...... without motor neuron disease.

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Whole-genome sequencing reveal ...... without motor neuron disease.

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NIH Image to ImageJ: 25 years of image analysis

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

The genetics and neuropathology of frontotemporal lobar degeneration

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

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

Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

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