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@ARTICLE{Lenoel:280906,
author = {Lenoel, Isadora and Ribon, Matthieu and Lorenc, Félicie
and Diebold, Aurélien and Philibert, Clementine E and
Robaldo, David and Badsi, Manel and Perronnet, Julianne and
Lameth, Julie and Berriat, Felix and Misawa, Hidemi and
Coutelier, Marie and Cassel, Raphaelle and Sarrazin, Nadège
and Jost-Mousseau, Coline and Bohl, Delphine and Millecamps,
Stéphanie and Mallat, Michel and Brenner, David and
Weishaupt, Jochen H and Boillée, Séverine and Lobsiger,
Christian S},
title = {{ALS}/{FTD}-linked {TBK}1 deficiency in microglia induces
an aged-like microglial signature and drives social
recognition deficits in mice.},
journal = {Nature Communications},
volume = {16},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Springer Nature},
reportid = {DZNE-2025-00990},
pages = {7951},
year = {2025},
abstract = {TANK-Binding Kinase 1 (TBK1) is involved in autophagy and
immune signaling. Dominant loss-of-function mutations in
TBK1 have been linked to Amyotrophic Lateral Sclerosis
(ALS), Fronto-temporal dementia (FTD), and ALS/FTD. However,
pathogenic mechanisms remain unclear, particularly the
cell-type specific disease contributions of TBK1 mutations.
Here, we show that deleting Tbk1 from mouse motor neurons
does not induce transcriptional stress, despite lifelong
signs of autophagy deregulations. Conversely, Tbk1 deletion
in microglia alters their homeostasis and reactive
responses. In both spinal cord and brain, Tbk1 deletion
leads to a pro-inflammatory, primed microglial signature
with features of ageing and neurodegeneration. While it does
not induce or modify ALS-like motor neuron damage,
microglial Tbk1 deletion is sufficient to cause early
FTD-like social recognition deficits. This phenotype is
linked to focal microglial activation and T cell
infiltration in the substantia nigra pars reticulata and
pallidum. Our results reveal that part of TBK1-linked FTD
disease originates from microglial dysfunction.},
keywords = {Animals / Protein Serine-Threonine Kinases: genetics /
Protein Serine-Threonine Kinases: deficiency / Protein
Serine-Threonine Kinases: metabolism / Microglia: metabolism
/ Microglia: pathology / Amyotrophic Lateral Sclerosis:
genetics / Amyotrophic Lateral Sclerosis: pathology /
Amyotrophic Lateral Sclerosis: metabolism / Mice /
Frontotemporal Dementia: genetics / Frontotemporal Dementia:
metabolism / Frontotemporal Dementia: pathology / Motor
Neurons: metabolism / Motor Neurons: pathology / Mice,
Knockout / Spinal Cord: pathology / Spinal Cord: metabolism
/ Male / Autophagy / Disease Models, Animal / Female / Mice,
Inbred C57BL / Aging / Brain: pathology / Brain: metabolism
/ Humans / Protein Serine-Threonine Kinases (NLM Chemicals)
/ Tbk1 protein, mouse (NLM Chemicals)},
cin = {Clinical Study Center (Ulm)},
ddc = {500},
cid = {I:(DE-2719)5000077},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40858618},
pmc = {pmc:PMC12381211},
doi = {10.1038/s41467-025-63211-w},
url = {https://pub.dzne.de/record/280906},
}