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Article

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

Neurobiology of disease - 1 Nov 2022

Gurfinkel Yuval, Polain Nicole, Sonar Krushna, Nice Penelope, Mancera Ricardo L, Rea Sarah Lyn

Abstract excerpt

Mutations in the Tank-binding kinase 1 (TBK1) gene were identified in 2015 in individuals with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). They account for ∼3-4% of cases. To date, over 100 distinct mutations, including missense, nonsense, deletion, insertion, duplication, and splice-site mutations have been reported. While nonsense mutations are predicted to cause disease...

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Identifiers

PMID: 36113750
DOI: 10.1016/j.nbd.2022.105859

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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