Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.D135N
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TBK1

NM_013254.4:p.D135N

Associated Papers

Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.

Chatterjee M et al.

Nature Medicine, 2024

38890531 (PubMed )
Supplement: 41591_2024_2937_MOESM3_ESM.pdf

N4BP1 coordinates ubiquitin-dependent crosstalk within the IκB kinase family to limit Toll-like receptor signaling and inflammation.

Gitlin AD et al.

Immunity, 2024

Optineurin provides a mitophagy contact site for TBK1 activation.

Yamano K et al.

The Embo Journal, 2024

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 2023

Unconventional initiation of PINK1/Parkin mitophagy by Optineurin.

Nguyen TN et al.

Molecular Cell, 2023

Specific association of TBK1 with the trans-Golgi network following STING stimulation.

Kemmoku H et al.

Cell Structure and Function, 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

Structural basis of STING binding with and phosphorylation by TBK1.

Zhang C et al.

Nature, 2019

TBK1 and IKKε prevent TNF-induced cell death by RIPK1 phosphorylation.

Lafont E et al.

Nature Cell Biology, 2018

Crystal structure and mechanism of activation of TANK-binding kinase 1.

Larabi A et al.

Cell Reports, 2013

Structure and ubiquitination-dependent activation of TANK-binding kinase 1.

Tu D et al.

Cell Reports, 2013

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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."