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Article

ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.

Proceedings of the National Academy of Sciences of the United States of America - 15 Jun 2021

Harding Olivia, Evans Chantell S, Ye Junqiang, Cheung Jonah, Maniatis Tom, Holzbaur Erika L F

Abstract excerpt

TANK-binding kinase 1 (TBK1) is a multifunctional kinase with an essential role in mitophagy, the selective clearance of damaged mitochondria. More than 90 distinct mutations in TBK1 are linked to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia, including missense mutations that disrupt the abilities of TBK1 to dimerize, associate with the mitophagy receptor optineurin (OPTN), autoactivate, or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34099552
DOI: 10.1073/pnas.2025053118
PMCID: PMC8214690

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