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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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“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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Citations
Cites
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method
Livak, K. J., & Schmittgen, T. D. (2001) · Methods · doi:10.1006/meth.2001.1262 · Cited by 180,860
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Coot : model-building tools for molecular graphics
Emsley, P., & Cowtan, K. (2004) · Acta Crystallographica Section D Biological Crystallography · doi:10.1107/s0907444904019158 · Cited by 30,571
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
Li, Y., Jiang, Q. L., Cao, G.-F., Yao, J., & Yan, B. (2015) · Cellular Physiology and Biochemistry · doi:10.1159/000373980 · Cited by 16,351
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,551
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
Kuro-o, M., Matsumura, Y., Aizawa, H., Kawaguchi, H., Suga, T., Utsugi, T., Ohyama, Y., Kurabayashi, M., Kaname, T., Kume, E., et al. (1997) · Nature · doi:10.1038/36285 · Cited by 3,837
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323
Li, B., & Leal, S. M. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.024 · Cited by 1,527
Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth
Wild, P., Farhan, H., McEwan, D. G., Wagner, S., Rogov, V. V., Brady, N. R., Richter, B., Korac, J., Waidmann, O., Choudhary, C., et al. (2011) · Science · doi:10.1126/science.1205405 · Cited by 1,298
Self-citationMutations of optineurin in amyotrophic lateral sclerosis
Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., et al. (2010) · Nature · doi:10.1038/nature08971 · Cited by 1,265
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Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587
Mechanism and medical implications of mammalian autophagy
Dikic, I., & Elazar, Z. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-018-0003-4 · Cited by 2,771
Brown, R. H., & Al‐Chalabi, A. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1603471 · Cited by 2,580
Decoding ALS: from genes to mechanism
Taylor, J. P., Brown, R. H., & Cleveland, D. W. (2016) · Nature · doi:10.1038/nature20413 · Cited by 2,120
Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets
Gao, C., Jiang, J., Tan, Y., & Chen, S. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01588-0 · Cited by 1,616
Molecular mechanisms and physiological functions of mitophagy
Onishi, M., Yamano, K., Sato, M., Matsuda, N., & Okamoto, K. (2021) · The EMBO Journal · doi:10.15252/embj.2020104705 · Cited by 1,469
Amyotrophic lateral sclerosis: a clinical review
Masrori, P., & Damme, P. V. (2020) · European Journal of Neurology · doi:10.1111/ene.14393 · Cited by 1,315
Proteasomal and Autophagic Degradation Systems
Đikić, I. (2017) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-061516-044908 · Cited by 1,217
Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities
Menzies, F. M., Fleming, A., Caricasole, A., Bento, C. F., Andrews, S. P., Ashkenazi, A., Füllgrabe, J., Jackson, A., Jimenez Sanchez, M., Karabiyik, C., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.01.022 · Cited by 1,134
TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS
Yu, C.-H., Davidson, S., Harapas, C. R., Hilton, J. B., Mlodzianoski, M. J., Laohamonthonkul, P., Louis, C., Low, R. R. J., Moecking, J., De Nardo, D., et al. (2020) · Cell · doi:10.1016/j.cell.2020.09.020 · Cited by 1,019
Heo, J.-M., Ordureau, A., Paulo, J. A., Rinehart, J., & Harper, J. W. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.08.016 · Cited by 906
Strong, M. J., Abrahams, S., Goldstein, L. H., Woolley, S., Mclaughlin, P., Snowden, J., Mioshi, E., Roberts-South, A., Benatar, M., HortobáGyi, T., et al. (2017) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2016.1267768 · Cited by 909
Pharmacological modulation of autophagy: therapeutic potential and persisting obstacles
Galluzzi, L., Bravo-San Pedro, J. M., Levine, B., Green, D. R., & Kroemer, G. (2017) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2017.22 · Cited by 842
Stress granules and neurodegeneration
Wolozin, B., & Ivanov, P. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-019-0222-5 · Cited by 810
Autophagy as a promoter of longevity: insights from model organisms
Hansen, M., Rubinsztein, D. C., & Walker, D. W. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-018-0033-y · Cited by 754
Richter, B., Sliter, D. A., Herhaus, L., Stolz, A., Wang, C., Beli, P., Zaffagnini, G., Wild, P., Martens, S., Wagner, S. A., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1523926113 · Cited by 755
Self-citationC9orf72-mediated ALS and FTD: multiple pathways to disease
Balendra, R., & Isaacs, A. M. (2018) · Nature Reviews Neurology · doi:10.1038/s41582-018-0047-2 · Cited by 715
ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D., & Akkari, P. A. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.01310 · Cited by 803
Deciphering the Molecular Signals of PINK1/Parkin Mitophagy
Nguyen, T. N., Padman, B. S., & Lazarou, M. (2016) · Trends in Cell Biology · doi:10.1016/j.tcb.2016.05.008 · Cited by 758
TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD
Ling, J. P., Pletniková, O., Troncoso, J. C., & Wong, P. C. (2015) · Science · doi:10.1126/science.aab0983 · Cited by 697
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B., Nalls, M. A., Keagle, P. J., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.02.027 · Cited by 686
Building and decoding ubiquitin chains for mitophagy
Harper, J. W., Ordureau, A., & Heo, J. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.129 · Cited by 689
Mackenzie, I. R., Nicholson, A. M., Sarkar, M., Messing, J., Purice, M. D., Pottier, C. P., Annu, K., Baker, M. C., Perkerson, R. B., Kurti, A., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.07.025 · Cited by 642
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications
Chia, R., Chiò, A., & Traynor, B. J. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30401-5 · Cited by 592
PARALS Registry, van Rheenen, W., SLALOM Group, SLAP Registry, NNIPPS Study Group, Shatunov, A., Dekker, A. M., McLaughlin, R. L., Diekstra, F. P., Pulit, S. L., et al. (2016) · Nature Genetics · doi:10.1038/ng.3622 · Cited by 573
Self-citationThe role of mitochondria in amyotrophic lateral sclerosis
Smith, E. F., Shaw, P. J., & Vos, K. J. D. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2017.06.052 · Cited by 579
van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00973-1 · Cited by 542
Self-citationC9orf72 is required for proper macrophage and microglial function in mice
O’Rourke, J. G., Bogdanik, L., Yáñez, A., Lall, D., Wolf, A. J., Muhammad, A. K. M. G., Ho, R., Carmona, S., Vit, J. P., Zarrow, J., et al. (2016) · Science · doi:10.1126/science.aaf1064 · Cited by 550
Mead, R. J., Shan, N., Reiser, H. J., Marshall, F., & Shaw, P. J. (2023) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00612-2 · Cited by 505
Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target
Mifflin, L., Ofengeim, D., & Yuan, J. (2020) · Nature Reviews Drug Discovery · doi:10.1038/s41573-020-0071-y · Cited by 505
PINK1/PARKIN signalling in neurodegeneration and neuroinflammation
Quinn, P. M. J., Moreira, P. I., Ambrósio, A. F., & Alves, C. H. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-01062-w · Cited by 503
Cellular functions of cGAS-STING signaling
Chen, C., & Xu, P. (2022) · Trends in Cell Biology · doi:10.1016/j.tcb.2022.11.001 · Cited by 474
The role of TDP-43 mislocalization in amyotrophic lateral sclerosis
Suk, T. R., & Rousseaux, M. W. C. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00397-1 · Cited by 483
Yao, R.-Q., Ren, C., Xia, Z.-F., & Yao, Y.-M. (2021) · Autophagy · doi:10.1080/15548627.2020.1725377 · Cited by 441
Sellier, C., Campanari, M., Julie Corbier, C., Gaucherot, A., Kolb‐Cheynel, I., Oulad‐Abdelghani, M., Ruffenach, F., Page, A., Ciura, S., Kabashi, E., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201593350 · Cited by 414
Olney, N. T., Spina, S., & Miller, B. L. (2017) · Neurologic Clinics · doi:10.1016/j.ncl.2017.01.008 · Cited by 419
A clinicopathological approach to the diagnosis of dementia
Elahi, F. M., & Miller, B. L. (2017) · Nature Reviews Neurology · doi:10.1038/nrneurol.2017.96 · Cited by 425
Targeting RIPK1 for the treatment of human diseases
Degterev, A., Ofengeim, D., & Yuan, J. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1901179116 · Cited by 415
ALS Genetics: Gains, Losses, and Implications for Future Therapies
Kim, G., Gautier, O., Tassoni-Tsuchida, E., Ma, X. R., & Gitler, A. D. (2020) · Neuron · doi:10.1016/j.neuron.2020.08.022 · Cited by 370
Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies
Beers, D. R., & Appel, S. H. (2019) · The Lancet Neurology · doi:10.1016/s1474-4422(18)30394-6 · Cited by 396
PINK1/Parkin-mediated mitophagy in neurodegenerative diseases
Li, J., Yang, D., Li, Z., Zhao, M., Wang, D., Sun, Z., Wen, P., Dai, Y., Gou, F., Ji, Y., et al. (2022) · Ageing Research Reviews · doi:10.1016/j.arr.2022.101817 · Cited by 406
Mackenzie, I. R., & Neumann, M. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13588 · Cited by 409
Selective autophagy as a potential therapeutic target for neurodegenerative disorders
Scrivo, A., Bourdenx, M., Pampliega, O., & Cuervo, A. M. (2018) · The Lancet Neurology · doi:10.1016/s1474-4422(18)30238-2 · Cited by 355
Moore, A. S., & Holzbaur, E. L. F. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1523810113 · Cited by 362
TBK1: a new player in ALS linking autophagy and neuroinflammation
Oakes, J. A., Davies, M. C., & Collins, M. O. (2017) · Molecular Brain · doi:10.1186/s13041-017-0287-x · Cited by 319
Stavoe, A. K. H., & Holzbaur, E. L. F. (2019) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100818-125242 · Cited by 328
“…that OPTN and TBK1 are involved in mitophagy downstream from PINK1 and Parkin, is particularly interesting because mutations in both OPTN and TBK1 are causative for rare forms of familial amyotrophic lateral sclerosis (ALS) (Cirulli et al. 2015, Freischmidt et al. 2015, Maruyama et al. 2010).”
BackgroundInflammation in ALS/FTD pathogenesis
McCauley, M. E., & Baloh, R. H. (2019) · Acta Neuropathologica · doi:10.1007/s00401-018-1933-9 · Cited by 341
Amyotrophic Lateral Sclerosis: An Update for 2018
Oskarsson, B., Gendron, T. F., & Staff, N. P. (2018) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2018.04.007 · Cited by 338
Pottier, C., Bieniek, K. F., Finch, N., van de Vorst, M., Baker, M., Perkersen, R., Brown, P., Ravenscroft, T., van Blitterswijk, M., Nicholson, A. M., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1436-x · Cited by 312
The identity and function of microglia in neurodegeneration
Song, W. M., & Colonna, M. (2018) · Nature Immunology · doi:10.1038/s41590-018-0212-1 · Cited by 308
ALS Genes in the Genomic Era and their Implications for FTD
Nguyen, H. P., Broeckhoven, C. V., & van der Zee, J. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.03.001 · Cited by 314
Neuroinflammation in frontotemporal dementia
Bright, F., Werry, E. L., Dobson-Stone, C., Piguet, O., Ittner, L. M., Halliday, G. M., Hodges, J. R., Kiernan, M. C., Loy, C. T., Kassiou, M., et al. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0231-z · Cited by 280
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Al-Chalabi, A., van den Berg, L. H., & Veldink, J. (2017) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.182 · Cited by 287
Bailey, J. N. C., Loomis, S. J., Kang, J. H., Allingham, R. R., Gharahkhani, P., Khor, C. C., Burdon, K. P., Aschard, H., Chasman, D. I., Igo, R. P., et al. (2016) · Nature Genetics · doi:10.1038/ng.3482 · Cited by 275
TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD
White, M. A., Kim, E., Duffy, A., Adalbert, R., Phillips, B. U., Peters, O. M., Stephenson, J., Yang, S., Massenzio, F., Lin, Z., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0113-5 · Cited by 288
Mitophagy in Alzheimer’s Disease and Other Age-Related Neurodegenerative Diseases
Cai, Q., & Jeong, Y. Y. (2020) · Cells · doi:10.3390/cells9010150 · Cited by 270
Genetics of Amyotrophic Lateral SclerosisPreprint
Ghasemi, M., & Brown, R. H. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024125 · Cited by 292
Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H.-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Gkazi, S. A., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aad9157 · Cited by 251
The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia
Abramzon, Y. A., Fratta, P., Traynor, B. J., & Chia, R. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00042 · Cited by 244
The Dual Role of Microglia in ALS: Mechanisms and Therapeutic Approaches
Geloso, M. C., Corvino, V., Marchese, E., Serrano, A., Michetti, F., & D’Ambrosi, N. (2017) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2017.00242 · Cited by 254
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Akçimen, F., Lopez, E. R., Landers, J. E., Nath, A., Chiò, A., Chia, R., & Traynor, B. J. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00592-y · Cited by 234
Root, J. T., Merino, P., Nuckols, A., Johnson, M. A., & Kukar, T. L. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105360 · Cited by 243
Autophagy Receptors and Neurodegenerative Diseases
Deng, Z., Purtell, K., Lachance, V., Wold, M. S., Chen, S., & Yue, Z. (2017) · Trends in Cell Biology · doi:10.1016/j.tcb.2017.01.001 · Cited by 243
Autophagy Induction as a Therapeutic Strategy for Neurodegenerative Diseases
Djajadikerta, A., Keshri, S., Tanasa, M. P., Prestil, R., Ryan, L., & Rubinsztein, D. C. (2019) · Journal of Molecular Biology · doi:10.1016/j.jmb.2019.12.035 · Cited by 243
Detection and Clearance of Damaged Lysosomes by the Endo-Lysosomal Damage Response and Lysophagy
Papadopoulos, C., & Meyer, H. (2017) · Current Biology · doi:10.1016/j.cub.2017.11.012 · Cited by 230
Expanding the ubiquitin code through post‐translational modification
Herhaus, L., & Đikić, I. (2015) · EMBO Reports · doi:10.15252/embr.201540891 · Cited by 240
Autophagy in the eye: Development, degeneration, and aging
Boya, P., Esteban‐Martínez, L., Serrano‐Puebla, A., Gómez‐Sintes, R., & Villarejo‐Zori, B. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2016.08.001 · Cited by 236
Deng, Z., Lim, J., Wang, Q., Purtell, K., Wu, S., Palomo, G. M., Tan, H., Manfredi, G., Zhao, Y., Peng, J., et al. (2019) · Autophagy · doi:10.1080/15548627.2019.1644076 · Cited by 237
Evolving and Expanding the Roles of Mitophagy as a Homeostatic and Pathogenic Process
Gustafsson, Å. B., & Dorn, G. W. (2018) · Physiological Reviews · doi:10.1152/physrev.00005.2018 · Cited by 235
Hot-spot KIF5A mutations cause familial ALS
Brenner, D., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Großkreutz, J., Weydt, P., Ruf, W. P., Neuwirth, C., et al. (2017) · Brain · doi:10.1093/brain/awx370 · Cited by 237
Self-citationHuman TBK1: A Gatekeeper of Neuroinflammation
Ahmad, L., Zhang, S.-Y., Casanova, J.-L., & Sancho-Shimizu, V. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.04.006 · Cited by 208
Gao, F., Almeida, S., & Lopez‐Gonzalez, R. (2017) · The EMBO Journal · doi:10.15252/embj.201797568 · Cited by 229
Rare-variant collapsing analyses for complex traits: guidelines and applications
Povysil, G., Petrovski, S., Hostyk, J. A., Aggarwal, V. S., Allen, A. S., & Goldstein, D. B. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0177-4 · Cited by 208
Motor Neuron Susceptibility in ALS/FTD
Ragagnin, A., Shadfar, S., Vidal, M., Jamali, M. S., & Atkin, J. D. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00532 · Cited by 232
Mechanisms of Selective Autophagy in Normal Physiology and Cancer
Mancias, J. D., & Kimmelman, A. C. (2016) · Journal of Molecular Biology · doi:10.1016/j.jmb.2016.02.027 · Cited by 196
Modelling amyotrophic lateral sclerosis: progress and possibilities
Damme, P. V., Robberecht, W., & Bosch, L. V. D. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.029058 · Cited by 225
Therapeutic targeting of autophagy in neurodegenerative and infectious diseases
Rubinsztein, D. C., Bento, C. F., & Deretic, V. (2015) · Journal of Experimental Medicine · doi:10.1084/jem.20150956 · Cited by 202
Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease
Nedelsky, N. B., & Taylor, J. P. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0157-5 · Cited by 201
Truban, D., Hou, X., Caulfield, T. R., Fiesel, F. C., & Springer, W. (2016) · Journal of Parkinson’s Disease · doi:10.3233/jpd-160989 · Cited by 237
Autophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189
“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].”
BackgroundProteostasis Failure in Neurodegenerative Diseases: Focus on Oxidative Stress
Höhn, A., Tramutola, A., & Cascella, R. (2020) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2020/5497046 · Cited by 208
ALS: A bucket of genes, environment, metabolism and unknown ingredients
Zufiría, M., Gil-Bea, F. J., Fernández‐Torrón, R., Poza, J. J., Muñoz-Blanco, J. L., Rojas‐García, R., Riancho, J., & de Munaín, A. L. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.05.004 · Cited by 204
Association Between Autophagy and Neurodegenerative Diseases
Fujikake, N., Shin, M., & Shimizu, S. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00255 · Cited by 197
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Boylan, K. (2015) · Neurologic Clinics · doi:10.1016/j.ncl.2015.07.001 · Cited by 193
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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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