Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.E696K
Back to variants list

TBK1

NM_013254.4:p.E696K

Associated Papers

TBK1 activity regulates the directionality of axonal transport of signalling endosomes.

Villarroel-Campos D et al.

Life Science Alliance, 2026

OPTN deficiency through CRISPR/Cas9 downregulates autophagy and mitophagy in a SOD1-G93A-expressing transgenic cell line.

Wen D et al.

Ibro Neuroscience Reports, 2025

Phospho-proteome profiling in human neurons reveals targets of TBK1 in ALS/FTD-associated autophagy networks.

Smeyers J et al.

Cell Reports, 2025

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Ghayal NB et al.

Acta Neuropathologica, 2025

Exploring TANK-Binding Kinase 1 in Amyotrophic Lateral Sclerosis: From Structural Mechanisms to Machine Learning-Guided Therapeutics.

Anjum F et al.

Life (basel, Switzerland), 2025

Inborn errors of canonical autophagy in neurodegenerative diseases.

Freisem D et al.

Human Molecular Genetics, 2025

ALS/FTD-linked TBK1 deficiency in microglia induces an aged-like microglial signature and drives social recognition deficits in mice.

Lenoel I et al.

Nature Communications, 2025

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Ghayal NB et al.

Biorxiv : the Preprint Server for Biology, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

TBK1 is involved in programmed cell death and ALS-related pathways in novel zebrafish models.

Raas Q et al.

Cell Death Discovery, 2025

The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Beckers J et al.

Autophagy Reports, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.

Dafsari HS et al.

Autophagy Reports, 2025

The Underestimated Role of Iron in Frontotemporal Dementia: A Narrative Review.

Ferretti S et al.

International Journal of Molecular Sciences, 2024

Control of mitophagy initiation and progression by the TBK1 adaptors NAP1 and SINTBAD.

Adriaenssens E et al.

Nature Structural & Molecular Biology, 2024

Lysosomal TBK1 responds to amino acid availability to relieve Rab7-dependent mTORC1 inhibition.

Talaia G et al.

The Embo Journal, 2024

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Nan H et al.

Alzheimer's Research & Therapy, 2024

A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice.

Brenner D et al.

The Journal of Experimental Medicine, 2024

Lysosomal TBK1 Responds to Amino Acid Availability to Relieve Rab7-Dependent mTORC1 Inhibition.

Talaia G et al.

Biorxiv : the Preprint Server for Biology, 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

Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder.

De Marchi F et al.

Biomedicines, 2023

Unconventional initiation of PINK1/Parkin mitophagy by Optineurin.

Nguyen TN et al.

Molecular Cell, 2023

Gefitinib facilitates PINK1/Parkin-mediated mitophagy by enhancing mitochondrial recruitment of OPTN.

Li N et al.

Fundamental Research, 2022

Autophagy Dysfunction in ALS: from Transport to Protein Degradation.

Cozzi M et al.

Journal of Molecular Neuroscience : Mn, 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

ALS Genetics: Gains, Losses, and Implications for Future Therapies.

Kim G et al.

Neuron, 2020

ALS-Related Mutant SOD1 Aggregates Interfere with Mitophagy by Sequestering the Autophagy Receptor Optineurin.

Tak YJ et al.

International Journal of Molecular Sciences, 2020

ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway.

Deng Z et al.

Autophagy, 2020

Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis.

Weinreich M et al.

Neuropathology and Applied Neurobiology, 2020

Mendelian neurodegenerative disease genes involved in autophagy.

Stamatakou E et al.

Cell Discovery, 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

The role of mitochondria in amyotrophic lateral sclerosis.

Smith EF et al.

Neuroscience Letters, 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

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Optineurin Functions for Optimal Immunity.

Slowicka K et al.

Frontiers in Immunology, 2018

Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.

Ryan TA et al.

Frontiers in Immunology, 2018

Properties of LINE-1 proteins and repeat element expression in the context of amyotrophic lateral sclerosis.

Pereira GC et al.

Mobile Dna, 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

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

Autophagy-Independent Lysosomal Targeting Regulated by ULK1/2-FIP200 and ATG9.

Goodwin JM et al.

Cell Reports, 2017

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.

Markovinovic A et al.

Progress in Neurobiology, 2017

Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway?

Khalil B et al.

Neural Regeneration Research, 2017

28852382 (PubMed )
Supplement: NRR-12-1052_Suppl1.pdf

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

Oakes JA et al.

Molecular Brain, 2017

1–50 of 59 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."