Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt, Axel, Wieland, Thomas, Richter, Benjamin, Ruf, Wolfgang, Schaeffer, Veronique, Müller, Kathrin, Marroquin, Nicolai, Nordin, Frida +32 more·2015·Nature Neuroscience
DOI 10.1038/nn.4000
Cited by (788)
Items 101–200 of 788
- Review: neuropathology of non-tau frontotemporal lobar degenerationNeumann, M., Mackenzie, I. R. A. · 2019 · Neuropathology and Applied Neurobiology
- The role of TBK1 in cancer pathogenesis and anticancer immunityAustin P Runde, Ryan Michael Mack, Peter Breslin, Jiwang Zhang · 2022 · Journal of Experimental & Clinical Cancer Research
- Degradation of engulfed mitochondria is rate-limiting in Optineurin-mediated mitophagy in neuronsEvans, Chantell S, Holzbaur, Erika LF · 2020 · eLife
- TDP43 nuclear export and neurodegeneration in models of amyotrophic lateral sclerosis and frontotemporal dementiaHilary C. Archbold, Kasey L. Jackson, Ayush Arora, Kaitlin Weskamp, Elizabeth M.H. Tank, Xingli Li, Roberto Miguez, Robert D. Dayton, Sharon Tamir, Ronald L. Klein et al. · 2018 · Scientific Reports
- Major review: Molecular genetics of primary open-angle glaucomaYutao Liu, R. Rand Allingham · 2017 · Experimental Eye Research
- Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell deathTaft, Justin, Markson, Michael, Legarda, Diana, Patel, Roosheel, Chan, Mark, Malle, Louise, Richardson, Ashley, Gruber, Conor, Martín-Fernández, Marta, Mancini, Grazia M.S. et al. · 2021 · Cell
- Invited Review: The role of prion‐like mechanisms in neurodegenerative diseasesZane Jaunmuktane, Sebastian Brandner · 2019 · Neuropathology and Applied Neurobiology
- The clinical spectrum of sporadic and familial forms of frontotemporal dementiaIone Woollacott, Jonathan Daniel Rohrer · 2016 · Journal of Neurochemistry
- MitophAging: Mitophagy in Aging and DiseaseDaniela Bakula, Morten Scheibye‐Knudsen · 2020 · Frontiers in Cell and Developmental Biology
- C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulationLall, Deepti, Lorenzini, Ileana, Mota, Thomas A., Bell, Shaughn, Mahan, Thomas E., Ulrich, Jason D., Davtyan, Hayk, Rexach, Jessica E., Muhammad, A.K.M. Ghulam, Shelest, Oksana et al. · 2021 · Neuron
- NEK1 mutations in familial amyotrophic lateral sclerosisDavid Brenner, Kathrin Müller, Thomas Wieland, Patrick Weydt, Sarah Böhm, Dorothée E. Lulé, Annemarie Hübers, Christoph Neuwirth, Markus Weber, Guntram Borck et al. · 2016 · Brain
- Progranulin deficiency causes impairment of autophagy and TDP-43 accumulationChang, Michael C., Srinivasan, Karpagam, Friedman, Brad A., Suto, Eric, Modrusan, Zora, Lee, Wyne P., Kaminker, Joshua S., Hansen, David V., Sheng, Morgan · 2017 · Journal of Experimental Medicine
- Emerging views of OPTN (optineurin) function in the autophagic process associated with diseaseYueping Qiu, Jincheng Wang, Hui Li, Bo Yang, Jiajia Wang, Qiaojun He, Qinjie Weng · 2021 · Autophagy
- Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathwaysAnna M. Blokhuis, Max Koppers, Ewout J. N. Groen, Dianne M. A. van den Heuvel, Stefano Dini Modigliani, Jasper J. Anink, Katsumi Fumoto, Femke van Diggelen, Anne Snelting, Peter Sodaar et al. · 2016 · Acta Neuropathologica
- Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phaseOeckl, Patrick, Weydt, Patrick, Steinacker, Petra, Anderl-Straub, Sarah, Nordin, Frida, Volk, Alexander E, Diehl-Schmid, Janine, Andersen, Peter M, Kornhuber, Johannes, Danek, Adrian et al. · 2019 · Journal of Neurology, Neurosurgery & Psychiatry
- Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and AutophagyThomas A. Ryan, David A. Tumbarello · 2018 · Frontiers in Immunology
- The basis of clinicopathological heterogeneity in TDP-43 proteinopathyIto Kawakami, Tetsuaki Arai, Masato Hasegawa · 2019 · Acta Neuropathologica
- Unconventional initiation of PINK1/Parkin mitophagy by OptineurinThanh Ngoc Nguyen, Justyna Zofia Sawa-Makarska, Grace Khuu, Wai Kit Lam, Elias Adriaenssens, Dorotea Fracchiolla, Stephen Shoebridge, Daniel Bernklau, Benjamin Scott Padman, Marvin Skulsuppaisarn et al. · 2023 · Molecular Cell
- Common Molecular Pathways in Amyotrophic Lateral Sclerosis and Frontotemporal DementiaJochen Hans Weishaupt, Tony Hyman, Ivan Đikić · 2016 · Trends in Molecular Medicine
- Autophagy-Virus Interplay: From Cell Biology to Human DiseaseLiyana Ahmad, Serge Mostowy, Vanessa Sancho‐Shimizu · 2018 · Frontiers in Cell and Developmental Biology
- Inside out: the role of nucleocytoplasmic transport in ALS and FTLDSteven Boeynaems, Elke Bogaert, Philip Van Damme, Ludo Van Den Bosch · 2016 · Acta Neuropathologica
- Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosisAlexander Erich Volk, Jochen Hans Weishaupt, Peter Munch Andersen, Albert Christian Ludolph, Christian Kubisch · 2018 · Medizinische Genetik
- Comprehensive analysis of the mutation spectrum in 301 German ALS familiesKathrin Müller, Dávid Brenner, Patrick Weydt, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Großkreutz, Joachim Schuster, Alexander Erich Volk, Guntram Borck et al. · 2018 · Journal of Neurology Neurosurgery & Psychiatry
- Immunity in amyotrophic lateral sclerosis: blurred lines between excessive inflammation and inefficient immune responsesBéland, Louis-Charles, Markovinovic, Andrea, Jakovac, Hrvoje, De Marchi, Fabiola, Bilic, Ervina, Mazzini, Letizia, Kriz, Jasna, Munitic, Ivana · 2020 · Brain Communications
- Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALSCasey N. Cook, Leonard Petrucelli · 2019 · Neuron
- C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levelsJimmy Beckers, Arun Kumar Tharkeshwar, Philip Van Damme · 2021 · Autophagy
- Frontotemporal Dementia, Where Do We Stand? A Narrative ReviewAnnibale Antonioni, Emanuela Maria Raho, Piervito Lopriore, Antonia Pia Pace, Raffaela Rita Latino, Martina Assogna, Michelangelo Mancuso, Daniela Gragnaniello, Enrico Granieri, Maura Pugliatti et al. · 2023 · International Journal of Molecular Sciences
- Significance of optineurin mutations in glaucoma and other diseasesYuriko Minegishi, Mao Nakayama, Daisuke Iejima, Kazuhide Kawase, Takeshi Iwata · 2016 · Progress in Retinal and Eye Research
- Value of systematic genetic screening of patients with amyotrophic lateral sclerosisShepheard, Stephanie R, Parker, Matthew D, Cooper-Knock, Johnathan, Verber, Nick S, Tuddenham, Lee, Heath, Paul, Beauchamp, Nick, Place, Elsie, Sollars, Elizabeth S A, Turner, Martin R et al. · 2021 · Journal of Neurology, Neurosurgery & Psychiatry
- Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteinsFaxiang Li, Xingqiao Xie, Yingli Wang, Jianping Liu, Xiaofang Cheng, Yujiao Guo, Yukang Gong, Shichen Hu, Lifeng Pan · 2016 · Nature Communications
- Mitochondria, lysosomes, and dysfunction: their meaning in neurodegenerationMatteo Audano, Anja Schneider, Nico Mitro · 2018 · Journal of Neurochemistry
- Molecular Mechanisms and Regulation of Mammalian MitophagyVinay Choubey, Akbar Zeb, Allen Kaasik · 2021 · Cells
- Epigenome editing technologies for discovery and medicineSean R. McCutcheon, Dahlia Rohm, Nahid Iglesias, Charles A. Gersbach · 2024 · Nature Biotechnology
- Defending the mitochondria: The pathways of mitophagy and mitochondrial-derived vesiclesRosalind F. Roberts, Matthew Y. H. Tang, Edward A. Fon, Thomas M. Durcan · 2016 · The International Journal of Biochemistry & Cell Biology
- Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLDCyril P. Pottier, Yingxue Ren, Ralph B. Perkerson, Matt C. Baker, Gregory D. Jenkins, Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Jeroen van Rooij, Melissa Erin Murray, Elizabeth A. Christopher et al. · 2019 · Acta Neuropathologica
- Mouse models of ALS: Past, present and futureCathleen M. Lutz · 2018 · Brain Research
- Disease-modifying therapies in amyotrophic lateral sclerosisAdriano Chiò, Letizia Mazzini, Gabriele Mora · 2020 · Neuropharmacology
- The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 MiceGerbino, Valeria, Kaunga, Esther, Ye, Junqiang, Canzio, Daniele, O’Keeffe, Sean, Rudnick, Noam D., Guarnieri, Paolo, Lutz, Cathleen M., Maniatis, Tom · 2020 · Neuron
- Protein folding alterations in amyotrophic lateral sclerosisSonam Parakh, Julie D. Atkin · 2016 · Brain Research
- Tdp-43 cryptic exons are highly variable between cell typesYun Ha Jeong, Jonathan P. Ling, Sophie Z. Lin, Aneesh Donde, Kerstin E. Braunstein, Elisa Majounie, Bryan J. Traynor, Katherine D. LaClair, Thomas E. Lloyd, Philip C. Wong · 2017 · Molecular Neurodegeneration
- Autophagy as a common pathway in amyotrophic lateral sclerosisDao K.H. Nguyen, Ravi Thombre, Jiou Wang · 2018 · Neuroscience Letters
- What we know about TMEM106B in neurodegenerationAlexandra M. Nicholson, Rosa Rademakers · 2016 · Acta Neuropathologica
- TBK1, a central kinase in innate immune sensing of nucleic acids and beyondZhou, Ruyuan, Zhang, Qian, Xu, Pinglong · 2020 · Acta Biochimica et Biophysica Sinica
- Stress granules at the intersection of autophagy and ALSZachary T. Monahan, Frank P. Shewmaker, Udai Bhan Pandey · 2016 · Brain Research
- Risk factors and emerging therapies in amyotrophic lateral sclerosisNowicka, Natalia, Juranek, Jakub, Juranek, Judyta K., Wojtkiewicz, Joanna · 2019 · International Journal of Molecular Sciences
- The genetics of amyotrophic lateral sclerosis: current insightsJanine Kirby, Afnan Al Sultan, Rachel Waller, Paul Roy Heath · 2016 · Degenerative Neurological and Neuromuscular Disease
- TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral SclerosisJulie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets et al. · 2016 · Human Mutation
- Ubiquitin and Receptor-Dependent Mitophagy Pathways and Their Implication in NeurodegenerationLauren E. Fritsch, M. Elyse Moore, Shireen A. Sarraf, Alicia M. Pickrell · 2019 · Journal of Molecular Biology
- Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutationsMeixiang Huang, Erica S. Modeste, Eric B. Dammer, Paola Merino, Georgia Taylor, Duc Minh Duong, Qiudong Deng, Christopher J. Holler, Marla Gearing, Dennis W. Dickson et al. · 2020 · Acta Neuropathologica Communications
- The genetics of amyotrophic lateral sclerosisMelissa Nijs, Philip Van Damme · 2024 · Current Opinion in Neurology
- The established and emerging roles of astrocytes and microglia in amyotrophic lateral sclerosis and frontotemporal dementiaRowan A. W. Radford, Marco Morsch, Stephanie L. Rayner, Nicholas James Cole, Dean L. Pountney, Roger S. Chung · 2015 · Frontiers in Cellular Neuroscience
- Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosisPauline Vercruysse, Jérôme Sinniger, Hajer El Oussini, Jelena Scekic‐Zahirovic, Stéphane Dieterle, Reinhard Dengler, Thomas Meyer, Stephan Zierz, Jan Kassubek, Wilhelm Fischer et al. · 2016 · Brain
- Ageing as a risk factor for ALS/FTDTeresa Niccoli, Linda Partridge, Adrian M. Isaacs · 2017 · Human Molecular Genetics
- Quality Control in Neurons: Mitophagy and Other Selective Autophagy MechanismsChantell S. Evans, Erika L.F. Holzbaur · 2019 · Journal of Molecular Biology
- The effect of music and multimodal stimulation on responses of premature infants in neonatal intensive care.Jayne M. Standley · 1998 · PubMed
- Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohortVan Mossevelde, Sara, van der Zee, Julie, Gijselinck, Ilse, Engelborghs, Sebastiaan, Sieben, Anne, Van Langenhove, Tim, De Bleecker, Jan, Baets, Jonathan, Vandenbulcke, Mathieu, Van Laere, Koen et al. · 2016 · Brain
- Genome-wide CRISPR screen for PARKIN regulators reveals transcriptional repression as a determinant of mitophagyPotting, Christoph, Crochemore, Christophe, Moretti, Francesca, Nigsch, Florian, Schmidt, Isabel, Manneville, Carole, Carbone, Walter, Knehr, Judith, DeJesus, Rowena, Lindeman, Alicia et al. · 2018 · Proceedings of the National Academy of Sciences
- Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Christopher P Webster, Emma F. Smith, Pamela J. Shaw, Kurt J. De Vos · 2017 · Frontiers in Molecular Neuroscience
- Astrocytes expressing ALS‐linked mutant FUS induce motor neuron death through release of tumor necrosis factor‐alphaAzadeh Kia, Kevin J. McAvoy, Karthik Krishnamurthy, Davide Trotti, Piera Pasinelli · 2018 · Glia
- Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neuronsHalil Tekin, Sean Simmons, Beryl B. Cummings, Linyi Alex Gao, Xian Adiconis, Cynthia C. Hession, Ayan Ghoshal, Danielle Ashley Dionne, Sourav Choudhury, Volkan Yesilyurt et al. · 2018 · Nature Biomedical Engineering
- ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagyOlivia J. Harding, Chantell S. Evans, Junqiang Ye, Jonah Cheung, Tom Maniatis, Erika L.F. Holzbaur · 2021 · Proceedings of the National Academy of Sciences
- Cellular Functions of Optineurin in Health and DiseaseKarolina Slowicka, Lars Vereecke, Geert Loo · 2016 · Trends in Immunology
- Therapeutic potential of targeting TBK1 in autoimmune diseases and interferonopathiesHasan, Maroof, Yan, Nan · 2016 · Pharmacological Research
- Amyotrophic Lateral Sclerosis and Autophagy: Dysfunction and Therapeutic TargetingAzin Amin, Nirma D. Perera, Philip M. Beart, Bradley J. Turner, Fazel Shabanpoor · 2020 · Cells
- Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanismsAndrea Markovinović, Raffaello Cimbro, Tereza Ljutić, Jasna Križ, Boris Rogelj, Ivana Munitić · 2017 · Progress in Neurobiology
- Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the pictureMiller, Zachary A., Sturm, Virginia E., Camsari, Gamze Balci, Karydas, Anna, Yokoyama, Jennifer S., Grinberg, Lea T., Boxer, Adam L., Rosen, Howard J., Rankin, Katherine P., Gorno-Tempini, Maria Luisa et al. · 2016 · Neurology Neuroimmunology & Neuroinflammation
- Association of Mutations in TBK1 With Sporadic and Familial Amyotrophic Lateral Sclerosis and Frontotemporal DementiaAxel Freischmidt, Kathrin Müller, Albert Christian Ludolph, Jochen Hans Weishaupt, Peter Munch Andersen · 2016 · JAMA Neurology
- Phosphorylation regulates the binding of autophagy receptors to FIP200 Claw domain for selective autophagy initiationZixuan Zhou, Jianping Liu, Tao Fu, Ping Wu, Chao Peng, Xinyu Gong, Yingli Wang, Mingfang Zhang, Ying Li, Yaru Wang et al. · 2021 · Nature Communications
- Constitutively active STING causes neuroinflammation and degeneration of dopaminergic neurons in miceSzego, Eva M, Malz, Laura, Bernhardt, Nadine, Rösen-Wolff, Angela, Falkenburger, Björn H, Luksch, Hella · 2022 · eLife
- Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosisSatoshi Yamashita, Yukio Ando · 2015 · Translational Neurodegeneration
- RNA binding proteins and the pathological cascade in ALS/FTD neurodegenerationDaisuke Ito, Mami Hatano, Norihiro Suzuki · 2017 · Science Translational Medicine
- Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosisFrancesca De Giorgio, Cheryl Maduro, Elizabeth Fisher, Abraham Acevedo‐Arozena · 2019 · Disease Models & Mechanisms
- Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosisKon‐Ping Lin, Pei‐Chien Tsai, Yi‐Chu Liao, Wei‐Ting Chen, Ching‐Piao Tsai, Bing‐Wen Soong, Yi‐Chung Lee · 2015 · Neurobiology of Aging
- TBK1‐mediated phosphorylation of LC3C and GABARAP‐L2 controls autophagosome shedding by ATG4 proteaseLina Herhaus, Ramachandra M. Bhaskara, Alf Håkon Lystad, Uxía Gestal Mato, Adriana Covarrubias‐Pinto, Florian Bonn, Anne Simonsen, Gerhard Hummer, Ivan Đikić · 2019 · EMBO Reports
- Parkin is a disease modifier in the mutant SOD1 mouse model of ALSGloria M. Palomo, Veronica Granatiero, Hibiki Kawamata, Csaba Konràd, Michelle J. Kim, Andrea J. Arreguin, Dazhi Zhao, Teresa A. Milner, Giovanni Manfredi · 2018 · EMBO Molecular Medicine
- The contribution of the peripheral immune system to neurodegenerationBerriat, Félix, Lobsiger, Christian S., Boillée, Séverine · 2023 · Nature Neuroscience
- Pathways to mitochondrial dysfunction in ALS pathogenesisMaria Teresa Carrı̀, Nadia D’Ambrosi, Mauro Cozzolino · 2016 · Biochemical and Biophysical Research Communications
- Toward a glutamate hypothesis of frontotemporal dementiaBenussi, Alberto, Alberici, Antonella, Buratti, Emanuele, Ghidoni, Roberta, Gardoni, Fabrizio, Di Luca, Monica, Padovani, Alessandro, Borroni, Barbara · 2019 · Frontiers in Neuroscience
- TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohortsLe Ber, Isabelle, De Septenville, Anne, Millecamps, Stéphanie, Camuzat, Agnès, Caroppo, Paola, Couratier, Philippe, Blanc, Frédéric, Lacomblez, Lucette, Sellal, François, Fleury, Marie-Céline et al. · 2015 · Neurobiology of Aging
- TDP‐43 loss of function inhibits endosomal trafficking and alters trophic signaling in neuronsBenjamin M. Schwenk, Hannelore Hartmann, Alperen Serdaroglu, Martin H. Schludi, Daniel Hornburg, Felix Meissner, Denise Orozco, Alessio Vittorio Colombo, Sabina Tahirović, Meike Michaelsen et al. · 2016 · The EMBO Journal
- Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia SpectrumKarch, Celeste M., Wen, Natalie, Fan, Chun C., Yokoyama, Jennifer S., Kouri, Naomi, Ross, Owen A., Höglinger, Gunter, Müller, Ulrich, Ferrari, Raffaele, Hardy, John et al. · 2018 · JAMA Neurology
- Genotype–phenotype links in frontotemporal lobar degenerationSara Van Mossevelde, Sebastiaan Engelborghs, Julie van der Zee, Christine Van Broeckhoven · 2018 · Nature Reviews Neurology
- Genetics of Amyotrophic Lateral SclerosisGregory, Jenna M., Fagegaltier, Delphine, Phatnani, Hemali, Harms, Matthew B. · 2020 · Current Genetic Medicine Reports
- Mechanisms, pathophysiological roles and methods for analyzing mitophagy – recent insightsJessica A. R. Williams, Wen‐Xing Ding · 2017 · Biological Chemistry
- Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controlsJohannes Denk, Felix Oberhauser, Johannes Kornhuber, Jens Wiltfang, Klaus C Fassbender, Matthias Leopold Schroeter, Alexander Erich Volk, Janine Diehl‐Schmid, Johannes Prudlo, Adrian Danek et al. · 2018 · PLoS ONE
- Recent advances in amyotrophic lateral sclerosisNilo Riva, Federica Agosta, Christian Lunetta, Massimo Filippi, Angelo Quattrini · 2016 · Journal of Neurology
- Mitophagy in the pathogenesis and management of diseaseWang, Qi, Sun, Yu, Li, Terytty Yang, Auwerx, Johan · 2026 · Cell Research
- Role of autophagy in the pathogenesis of amyotrophic lateral sclerosisJae Keun Lee, Jin Hee Shin, Ji Eun Lee, Eui-Ju Choi · 2015 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axisShuo‐Chien Ling, Somasish Ghosh Dastidar, Seiya Tokunaga, Wan Yun Ho, Kenneth Lim, Hristelina S. Ilieva, Philippe A. Parone, Sheue-Houy Tyan, Tsemay M. Tse, Jer‐Cherng Chang et al. · 2019 · eLife
- Proteostasis impairment in ALSCéline Ruegsegger, Smita Saxena · 2016 · Brain Research
- CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosisCarol Dobson‐Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey Ragagnin, Zac Chatterton, Francine Carew‐Jones, Claire E. Shepherd, Holly Stefen, Esmeralda Parić, Thomas Fath et al. · 2020 · Brain
- Proteotoxicity and Neurodegenerative DiseasesClara Ruz, José Luis Alcantud, Francisco Vives Montero, Raquel Durán, Sara Bandrés‐Ciga · 2020 · International Journal of Molecular Sciences
- ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamicsMinyeop Nahm, Su Min Lim, Young-Eun Kim, Jinseok Park, Min‐Young Noh, Sang-Gon Lee, Jueun Roh, Sung-Min Hwang, Chul‐Kyu Park, Yong Ho Kim et al. · 2020 · Science Translational Medicine
- Genetic screening of a large series of North American sporadic and familial frontotemporal dementia casesRamos, Eliana Marisa, Dokuru, Deepika Reddy, Van Berlo, Victoria, Wojta, Kevin, Wang, Qing, Huang, Alden Y., Deverasetty, Sandeep, Qin, Yue, van Blitterswijk, Marka, Jackson, Jazmyne et al. · 2020 · Alzheimer's & Dementia
- Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and CancerRobert Weil, Emmanuel Laplantine, Shannel Curic, Pierre Génin · 2018 · Frontiers in Immunology
- Optineurin deficiency in mice is associated with increased sensitivity to Salmonella but does not affect proinflammatory NF‐κB signalingKarolina Slowicka, Lars Vereecke, Conor Mc Guire, Mozes Sze, Jonathan Maelfait, Annasaheb B. Kolpe, Xavier Saelens, Rudi Beyaert, Geert Loo · 2015 · European Journal of Immunology
- ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D. Topp, Bradley N. Smith, Agnes Lumi Nishimura, Han-Jou Chen, Soragia Athina Gkazi, Jack W. Miller, Chun Hao Wong, Caroline A. Vance, Frank Baas et al. · 2018 · Neurobiology of Aging
- Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosisYuri Ciervo, Ke Ning, Jun Xu, Pamela J. Shaw, Richard J. Mead · 2017 · Molecular Neurodegeneration
- USP1–UAF1 deubiquitinase complex stabilizes TBK1 and enhances antiviral responsesZhongxia Yu, Hui Song, Mutian Jia, Jintao Zhang, Wenwen Wang, Qi Li, Lining Zhang, Wei Zhao · 2017 · The Journal of Experimental Medicine
- Synaptic Paths to Neurodegeneration: The Emerging Role of TDP-43 and FUS in Synaptic FunctionsShuo‐Chien Ling · 2018 · Neural Plasticity