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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees. No enrichment of LoF mutations was observed in a targeted mutation screen of 1,010 sporadic ALS and 650 additional control individuals. Linkage analysis in four families gave an aggregate LOD score of 4.6. In vitro experiments confirmed the loss of expression of TBK1 LoF mutant alleles, or loss of interaction of the C-terminal TBK1 coiled-coil domain (CCD2) mutants with the TBK1 adaptor protein optineurin, which has been shown to be involved in ALS pathogenesis. We conclude that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
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In the citing paper
“Neuropathological analysis of CNS tissue from ALS patients with TBK1 mutations shows SQSTM1- and TARDBP-positive inclusions in motor neurons and glia [206,210,211], along with reduced TBK1 mRNA and protein, suggesting haploinsufficiency mechanisms [205,206].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [206]
In the citing paper
“Whole exome sequencing studies revealed that mutations in TBK1 are also responsible for ~1% of patients with familial or otherwise sporadic ALS [205,206].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [206]
In the citing paper
“Consistent with this, most ALS-associated TBK1 mutations affect the kinase and the coiled-coiled domains, both of which are vital for TBK1 function [206].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [206]
In the citing paper
“ALS-associated mutations in TBK1, OPTN, SQSTM1, and VCP all affect autophagy as well as microglial function and innate immunity [192,205,206,441–443].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [206]
In the citing paper
“Additionally, mutations in TBK1 are associated with developing FTD,317,318”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [318]
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OPTN：a promising target of autophagy to treat autophagy defective diseasesPreprint
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Minimized combinatorial CRISPR screens identify genetic interactions in autophagy
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Metadata
- Authors
- Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., Pinto, S., Press, R., Millecamps, S., Molko, N., Bernard, E., Desnuelle, C., Soriani, M.-H., Dorst, J., Graf, E., Nordström, U., Feiler, M. S., Putz, S., Boeckers, T. M., Meyer, T., Winkler, A. S., Winkelman, J., de Carvalho, M., Thal, D. R., Otto, M., Brännström, T., Volk, A. E., Kursula, P., Danzer, K. M., Lichtner, P., Dikic, I., Meitinger, T., Ludolph, A. C., Strom, T. M., Andersen, P. M., & Weishaupt, J. H.
- Affiliations
- Universität Ulm (DE)
- Helmholtz Munich (DE)
- Goethe University Frankfurt (DE)
- Umeå University (SE)
- University of Lisbon (PT)
- Karolinska University Hospital (SE)
- Centre National de la Recherche Scientifique (FR)
- Centre Hospitalier Territorial de Nouvelle-Calédonie (NC)
- Hôpital Pierre Wertheimer (FR)
- Centre Hospitalier Universitaire de Nice (FR)
- Humboldt-Universität zu Berlin (DE)
- Technical University of Munich (DE)
- University of Bergen (NO)
- Corresponding author
- Andersen, Peter M
- Weishaupt, Jochen H
- ORCID
- Freischmidt, Axel
- Wieland, Thomas
- Richter, Benjamin
- Ruf, Wolfgang
- Müller, Kathrin
- Marroquin, Nicolai
- Hübers, Annemarie
- Weydt, Patrick
- Pinto, Susana
- Millecamps, Stéphanie
- Bernard, Emilien
- Desnuelle, Claude
- Dorst, Johannes
- Graf, Elisabeth
- Nordström, Ulrika
- Boeckers, Tobias M
- Meyer, Thomas
- Winkler, Andrea S
- Thal, Dietmar R
- Otto, Markus
- Brännström, Thomas
- Volk, Alexander E
- Kursula, Petri
- Danzer, Karin M
- Lichtner, Peter
- Meitinger, Thomas
- Ludolph, Albert C
- Andersen, Peter M
- Weishaupt, Jochen H
- Venue
- Nature Neuroscience
- Published
- 2015-03-24
- Volume
- 18
- Issue
- 5
- Pages
- 631-636
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- OpenAlex
- W2156054547
- Cited by
- 786
- References
- 35
- Citations by year
- 2026: 29 · 2025: 50 · 2024: 48 · 2023: 47 · 2022: 69 · 2021: 75 · 2020: 100 · 2019: 79 · 2018: 88 · 2017: 78 · 2016: 89 · 2015: 32
- FWCI
- 67.45
- Type
- journal article
- Language
- en
- Open access
- green
- lirias.kuleuven.be
- Licence
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- Lirias (KU Leuven) (submittedVersion, other-oa)
- HAL (submittedVersion, other-oa)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion)
- Funders
- Brain Research Foundation
- Ulla-Carin Lindquists stiftelse för ALS-forskning
- Bundesministerium für Bildung und Forschung (01GI0704)
- Knut och Alice Wallenbergs Stiftelse
- Vetenskapsrådet
- Fondation Charcot
- Bertil Hållstens Forskningsstiftelse
- Swedish Brain Power
- German Network for Motor Neuron Diseases
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- TBK1, haploinsufficiency, familial ALS, frontotemporal dementia, optineurin, loss-of-function mutations, coiled-coil domain, autophagy, neuroinflammation, neurodegeneration, genetic linkage, motor neuron degeneration
- MeSH terms
- Alleles, Amyotrophic Lateral Sclerosis, Cells, Cultured, DNA Mutational Analysis, Europe, Female, Gene Frequency, Humans, Male, Pedigree, Protein Serine-Threonine Kinases, Sequence Analysis, DNA, Protein Structure, Tertiary, Codon, Nonsense, Genetic Heterogeneity, Cell Cycle Proteins, Mutation, Missense, Membrane Transport Proteins, Transcription Factor TFIIIA, Genome-Wide Association Study, Frontotemporal Dementia, Exome
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