Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.R308Q
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TBK1

NM_013254.4:p.R308Q

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

The genomic landscape of lung cancer in never-smokers from the Women's Health Initiative.

Moorthi S et al.

Jci Insight, 2024

39052387 (PubMed )
Supplement: jciinsight-9-174643-s252.xlsx › Table_S4

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

Zhao B et al.

European Journal of Neurology, 2023

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

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

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

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

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

30196251 (PubMed )
Supplement: jnnp-2018-318823supp001.pdf

Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.

Yu H et al.

Molecular Genetics & Genomic Medicine, 2019

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Pozzi L et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf

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

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

Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.

Tsai PC et al.

Neurobiology of Aging, 2016

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Freischmidt A et al.

Nature Neuroscience, 2015

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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."