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

doi:10.1084/jem.20221190

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Article

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

The Journal of experimental medicine - 6 May 2024

Brenner David, Sieverding Kirsten, Srinidhi Jahnavi, Zellner Susanne, Secker Christopher, Yilmaz Rüstem, Dyckow Julia, Amr Shady, Ponomarenko Anna, Tunaboylu Esra, Douahem Yasmin, Schlag Joana S, Rodríguez Martínez Lucía, Kislinger Georg, Niemann Cornelia, Nalbach Karsten, Ruf Wolfgang P, Uhl Jonathan, Hollenbeck Johanna, Schirmer Lucas, Catanese Alberto, Lobsiger Christian S, Danzer Karin M, Yilmazer-Hanke Deniz, Münch Christian, Koch Philipp, Freischmidt Axel, Fetting Martina, Behrends Christian, Parlato Rosanna, Weishaupt Jochen H

Abstract excerpt

Heterozygous mutations in the TBK1 gene can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The majority of TBK1-ALS/FTD patients carry deleterious loss-of-expression mutations, and it is still unclear which TBK1 function leads to neurodegeneration. We investigated the impact of the pathogenic TBK1 missense variant p.E696K, which does not abolish protein expression, but leads to a...

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PMID: 38517332
DOI: 10.1084/jem.20221190
PMCID: PMC10959724

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