Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Optineurin provides a mitophagy contact site for TBK1 activation.
Yamano K et al.
The Embo Journal, 2024
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.
Zhao B et al.
European Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. Neurology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
Khatoon F et al.
3 Biotech, 2022
ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.
Harding O et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway.
Deng Z et al.
Autophagy, 2020
Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity.
Ye J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.
Lattante S et al.
Neurobiology of Aging, 2019
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.
McCombe PA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.
Yu H et al.
Molecular Genetics & Genomic Medicine, 2019
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M et al.
Neurobiology of Aging, 2018
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
TBK1: a new player in ALS linking autophagy and neuroinflammation.
Oakes JA et al.
Molecular Brain, 2017
Delineating the relationship between amyotrophic lateral sclerosis and frontotemporal dementia: Sequence and structure-based predictions.
Kumar V et al.
Biochimica Et Biophysica Acta, 2016
Human TBK1: A Gatekeeper of Neuroinflammation.
Ahmad L et al.
Trends in Molecular Medicine, 2016
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Freischmidt A et al.
Nature Neuroscience, 2015