The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 Mice
Open accessAbstract
DNA sequence variants in the TBK1 gene associate with or cause sporadic or familial amyotrophic lateral sclerosis (ALS). Here we show that mice bearing human ALS-associated TBK1 missense loss-of-function mutations, or mice in which the Tbk1 gene is selectively deleted in motor neurons, do not display a neurodegenerative disease phenotype. However, loss of TBK1 function in motor neurons of the SOD1 G93A mouse model of ALS impairs autophagy, increases SOD1 aggregation, and accelerates early disease onset without affecting lifespan. By contrast, point mutations that decrease TBK1 kinase activity in all cells also accelerate disease onset but extend the lifespan of SOD1 mice. This difference correlates with the failure to activate high levels of expression of interferon-inducible genes in glia. We conclude that loss of TBK1 kinase activity impacts ALS disease progression through distinct pathways in different spinal cord cell types and further implicate the importance of glia in neurodegeneration.
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Tbk1 haploinsufficiency impairs motor neuron autophagy and accelerates clinical phenotypes as well as the accumulation of mutant SOD1 in transgenic ALS mouse models.
“Tbk1 haploinsufficiency impairs motor neuron autophagy and accelerates clinical phenotypes as well as the accumulation of mutant SOD1 in transgenic ALS mouse models [214,215].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [215]
Impaired autophagy sensitizes the nervous system to key pathogenic events occurring early in ALS pathogenesis.
“These findings not only suggest that impaired autophagy sensitizes the nervous system to key pathogenic events occurring early in ALS pathogenesis”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [215]
Neuroinflammation is important in ALS disease progression.
“but also highlight the importance of neuroinflammation in disease progression [215].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [215]
Ubiquitous expression of ALS-related TBK1 mutations, heterozygous TBK1 deletion, or motor neuron-specific TBK1 deletion result in loss of function phenotypes but are insufficient to produce ALS-related neurodegeneration in mice.
“Ubiquitous expression of ALS-related TBK1 mutations, heterozygous TBK1 deletion, or motor neuron-specific TBK1 deletion result in loss of function phenotypes but are insufficient to produce ALS-related neurodegeneration in mice [214,215].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [215]
Loss of TBK1 activity in SOD1G93A mouse models of ALS curtails autophagy and accelerates the clinical manifestation of ALS.
“Of note, loss of TBK1 activity in SOD1G93A mouse models of ALS curtails autophagy and accelerates the clinical manifestation of ALS (Gerbino et al, 2020).”
From Autophagy in major human diseases (2021) · cites this paper as Gerbino et al, 2020
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“accumulation of mutant SOD1 in transgenic ALS mouse models [214,215].”
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- Authors
- Gerbino, V., Kaunga, E., Ye, J., Canzio, D., O’Keeffe, S., Rudnick, N. D., Guarnieri, P., Lutz, C. M., & Maniatis, T.
- Affiliations
- Mortimer B. Zuckerman Mind Brain Behavior Institute (US)
- Columbia University (US)
- Jackson Laboratory (US)
- New York Genome Center (US)
- Corresponding author
- Maniatis, Tom
- ORCID
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2020-06
- Volume
- 106
- Issue
- 5
- Pages
- 789-805.e5
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W3013449576
- Cited by
- 102
- References
- 71
- Citations by year
- 2026: 11 · 2025: 16 · 2024: 14 · 2023: 10 · 2022: 22 · 2021: 20 · 2020: 9
- FWCI
- 6.60
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Funders
- Amyotrophic Lateral Sclerosis Association
- Takeda Pharmaceuticals U.S.A.
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, SOD1 G93A mice, motor neurons, autophagy, SOD1 aggregation, interferon-stimulated genes, glia, disease onset, lifespan, neurodegeneration
- MeSH terms
- Superoxide Dismutase-1, Loss of Function Mutation, Amyotrophic Lateral Sclerosis, Animals, Autophagy, Disease Models, Animal, Inflammation, Motor Neurons, Neuromuscular Junction, Survival Rate, Protein Serine-Threonine Kinases, Microglia, Age of Onset, Mice, Knockout, Disease Progression, Mutation, Missense, Mice, Gene Knock-In Techniques
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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