Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.R134H
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TBK1

NM_013254.4:p.R134H

Associated Papers

PRMT1 (protein arginine methyltransferase 1) is essential for neuromuscular junction and mitochondrial homeostasis via mitophagy regulation.

Bae JH et al.

Autophagy, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › Novel_variants_

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.

Zhao B et al.

European Journal of Neurology, 2023

Prospects for gene replacement therapies in amyotrophic lateral sclerosis.

Giovannelli I et al.

Nature Reviews. Neurology, 2023

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Nel M et al.

Neurology. Genetics, 2022

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

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

de Majo M et al.

Neurobiology of Aging, 2018

TBK1: a new player in ALS linking autophagy and neuroinflammation.

Oakes JA et al.

Molecular Brain, 2017

28148298 (PubMed )
Supplement: 13041_2017_287_MOESM1_ESM.pdf

Human TBK1: A Gatekeeper of Neuroinflammation.

Ahmad L et al.

Trends in Molecular Medicine, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."