Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers.

Journal of neurology - 1 Jun 2022

Khoshnood Behzad, Ullgren Abbe, Laffita-Mesa Jose, Öijerstedt Linn, Patra Kalicharan, Nennesmo Inger, Graff Caroline

Abstract excerpt

BACKGROUND: Frontotemporal dementia (FTD) is a neurodegenerative disease, resulting in progressive problems in language and/or behaviour and is often diagnosed before 65 years of age. Ubiquitin positive protein aggregates in the brain are among the key pathologic hallmarks of frontotemporal lobar degeneration (FTLD) postmortem. The TANK-binding kinase 1 gene (TBK1) is on the list of genes that can contribute to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Frontotemporal Dementia

Share to Haploinsufficiency

Share to Neurodegenerative Diseases

Share to Protein Serine-Threonine Kinases

Share to Ubiquitination

Source

Open in PubMed Open full text

Identifiers

PMID: 34800171
DOI: 10.1007/s00415-021-10887-x
PMCID: PMC9120096

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers.PMID 34800171Read ↗

A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes.Semantic proximity Read ↗

Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.Semantic proximity Read ↗

TDP-43 subcellular mislocalisation is correlated with loss of optineurin binding for frontotemporal dementia and amyotrophic lateral sclerosis associated <i>TBK1</i> missense variantsSemantic proximity Read ↗

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Mechanistic Insights into Impaired Autophagy and Proteostatic Failure.Semantic proximity Read ↗

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes.Semantic proximity Read ↗

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.Semantic proximity Read ↗

Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.Semantic proximity Read ↗

ALS-associated TBK1 variant p.G175S is defective in phosphorylation of p62 and impacts TBK1-mediated signalling and TDP-43 autophagic degradation.Semantic proximity Read ↗

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionSemantic proximity Read ↗

ALS and FTD-associated missense mutations in TBK1 differentially disrupt mitophagySemantic proximity Read ↗

TBK1 interacts with tau and enhances neurodegeneration in tauopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.