TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Sreedharan, Jemeen, Blair, Ian P., Tripathi, Vineeta B., Hu, Xun, Vance, Caroline, Rogelj, Boris, Ackerley, Steven, Durnall, Jennifer C., Williams, Kelly L., Buratti, Emanuele, Baralle, Francisco, de Belleroche, Jacqueline, Mitchell, J. Douglas, Leigh, P. Nigel, Al-Chalabi, Ammar, Miller, Christopher C., Nicholson, Garth, Shaw, Christopher E.·2008·Science
DOI 10.1126/science.1154584

Cited by (1,011)

Items 201–300 of 1,011

  1. FUS pathology in basophilic inclusion body disease
    David G. Muñoz, Manuela Neumann, Hirofumi Kusaka, Osamu Yokota, Kenji Ishihara, Seishi Terada, Shigetoshi Kuroda, Ian R. Mackenzie · 2009 · Acta Neuropathologica
  2. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
    Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David et al. · 2012 · Nature Genetics
  3. An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis
    Melissa S. Rotunno, Daryl A. Bosco · 2013 · Frontiers in Cellular Neuroscience
  4. Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease
    Barbara Borroni, Cristian Bonvicini, Antonella Alberici, Emanuele Buratti, C. Agosti, Silvana Archetti, Alice Papetti, Cristiana Stuani, Mónica Di Luca, Massimo Gennarelli et al. · 2009 · Human Mutation
  5. Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models
    Maria Armakola, Matthew Higgins, Matthew D. Figley, Sami J. Barmada, Emily Anne Scarborough, Zamia Diaz, Xiaodong Fang, James Shorter, Nevan J. Krogan, Steven M. Finkbeiner et al. · 2012 · Nature Genetics
  6. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
    Bradley N. Smith, Simon D. Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew King, Nicola Ticozzi, Kevin Patrick Kenna, Soragia Athina Gkazi et al. · 2017 · Science Translational Medicine
  7. Mitochondrial dysfunction in ALS
    Mauro Cozzolino, Maria Teresa Carrì · 2011 · Progress in Neurobiology
  8. Emerging Roles of Disordered Sequences in RNA-Binding Proteins
    Sara Calabretta, Stéphane Richard · 2015 · Trends in Biochemical Sciences
  9. The microglial NLRP3 inflammasome is activated by amyotrophic lateral sclerosis proteins
    Deora, Vandana, Lee, John D., Albornoz, Eduardo A., McAlary, Luke, Jagaraj, Cyril J., Robertson, Avril A. B., Atkin, Julie D., Cooper, Matthew A., Schroder, Kate, Yerbury, Justin J. et al. · 2020 · Glia
  10. The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia
    Abramzon, Yevgeniya A., Fratta, Pietro, Traynor, Bryan J., Chia, Ruth · 2020 · Frontiers in Neuroscience
  11. Autophagy Induction as a Therapeutic Strategy for Neurodegenerative Diseases
    Alvin Djajadikerta, Swati Keshri, Mariana Pavel Tanasa, Ryan Prestil, Laura Ryan, David Chaim Rubinsztein · 2019 · Journal of Molecular Biology
  12. Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis
    Jessica T. Root, Paola Merino, Austin Nuckols, Michelle A. Johnson, Thomas L. Kukar · 2021 · Neurobiology of Disease
  13. A Seeding Reaction Recapitulates Intracellular Formation of Sarkosyl-insoluble Transactivation Response Element (TAR) DNA-binding Protein-43 Inclusions
    Yoshiaki Furukawa, Kumi Kaneko, Shôji Watanabe, Koji Yamanaka, Nobuyuki Nukina · 2011 · Journal of Biological Chemistry
  14. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
    John Cornelis Van Swieten, Peter Heutink · 2008 · The Lancet Neurology
  15. ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP
    Shuying Sun, Shuo‐Chien Ling, Jinsong Qiu, Claudio Ponte de Albuquerque, Yu Zhou, Seiya Tokunaga, Hairi Li, Haiyan Qiu, Anh Bui, Gene Wei-Ming Yeo et al. · 2015 · Nature Communications
  16. The Role of Sex and Sex Hormones in Neurodegenerative Diseases
    Elisabetta Vegeto, Alessandro Maria Villa, Sara Della Torre, V. Crippa, P. Rusmini, Riccardo Cristofani, M. Galbiati, Adriana C. Maggi, Angelo Poletti · 2019 · Endocrine Reviews
  17. TDP-43 condensation properties specify its RNA-binding and regulatory repertoire
    Martina Hallegger, Anob M. Chakrabarti, Flora C. Y. Lee, Bo Lim Lee, Aram Gustav Amalietti, Hana M. Odeh, Katie E. Copley, Jack D. Rubien, Bede Portz, Klara Kuret et al. · 2021 · Cell
  18. Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
    Akçimen, Fulya, Lopez, Elia R., Landers, John E., Nath, Avindra, Chiò, Adriano, Chia, Ruth, Traynor, Bryan J. · 2023 · Nature Reviews Genetics
  19. Functional Significance of TDP-43 Mutations in Disease
    Emanuele Buratti · 2015 · Advances in genetics
  20. Phosphorylation Promotes Neurotoxicity in aCaenorhabditis elegansModel of TDP-43 Proteinopathy
    Nicole F. Liachko, Chris R. Guthrie, Brian C. Kraemer · 2010 · Journal of Neuroscience
  21. Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies
    Steve Vucic, Jeffrey D. Rothstein, Matthew C. Kiernan · 2014 · Trends in Neurosciences
  22. Motor Neuron Susceptibility in ALS/FTD
    Audrey Ragagnin, Sina Shadfar, Marta Vidal, Md Shafi Jamali, Julie D. Atkin · 2019 · Frontiers in Neuroscience
  23. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
    Prudencio, Mercedes, Humphrey, Jack, Pickles, Sarah, Brown, Anna-Leigh, Hill, Sarah E., Kachergus, Jennifer M., Shi, J., Heckman, Michael G., Spiegel, Matthew R., Cook, Casey et al. · 2020 · Journal of Clinical Investigation
  24. Pathomechanisms of TDP‐43 in neurodegeneration
    Ju Gao, Luwen Wang, Mikayla L. Huntley, George L. Perry, Xinglong Wang · 2018 · Journal of Neurochemistry
  25. Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorder
    Fen‐Biao Gao, Sandra Almeida, Rodrigo Lopez‐Gonzalez · 2017 · The EMBO Journal
  26. MicroRNAs in neurodegenerative diseases and their therapeutic potential
    Junn, Eunsung, Mouradian, M. Maral · 2012 · Pharmacology & Therapeutics
  27. RNA-binding proteins in neurodegeneration: mechanisms in aggregate
    Erin G. Conlon, James L. Manley · 2017 · Genes & Development
  28. Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo
    Andrea D’Ambrogio, Emanuele Buratti, Cristiana Stuani, Corrado Guarnaccia, Maurizio Romano, Youhna M. Ayala, Francisco Ernesto Baralle · 2009 · Nucleic Acids Research
  29. Neuronal Aggregates: Formation, Clearance, and Spreading
    Junghyun Lim, Zhenyu Yue · 2015 · Developmental Cell
  30. MALAT1 long non-coding RNA in cancer
    Rei Yoshimoto, Akila Mayeda, Minoru Yoshida, Shinichi Nakagawa · 2015 · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
  31. Progressive motor weakness in transgenic mice expressing human TDP-43
    Nancy R. Stallings, Krishna Puttaparthi, Christina M. Luther, Dennis K. Burns, Jeffrey L. Elliott · 2010 · Neurobiology of Disease
  32. Genetic contribution of FUS to frontotemporal lobar degeneration
    Tim Van Langenhove, Julie van der Zee, Kristel Sleegers, Sebastiaan Engelborghs, Rik R. Vandenberghe, Ilse Gijselinck, Marleen Van den Broeck, Maria Mattheijssens, Karin Peeters, Peter P. De Deyn et al. · 2010 · Neurology
  33. Modelling amyotrophic lateral sclerosis: progress and possibilities
    Philip Van Damme, Wim Robberecht, Ludo Van Den Bosch · 2017 · Disease Models & Mechanisms
  34. Genetic mutations in RNA-binding proteins and their roles in ALS
    Katannya Kapeli, Fernando J. Martinez, Gene Wei-Ming Yeo · 2017 · Human Genetics
  35. Autophagy in aging and neurodegenerative diseases: implications for pathogenesis and therapy
    Chen‐Chen Tan, Jin‐Tai Yu, Meng‐Shan Tan, Teng Jiang, Xi‐Chen Zhu, Lan Tan · 2013 · Neurobiology of Aging
  36. FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
    Cao Huang, Hongxia Zhou, Jianbin Tong, Han Chen, Yongjian Liu, Dian Wang, Xiaotao Wei, Xu‐Gang Xia · 2011 · PLoS Genetics
  37. TDP-43 aggregation in neurodegeneration: Are stress granules the key?
    Colleen M. Dewey, Basar Cenik, Chantelle F. Sephton, Brett A. Johnson, Joachim Herz, Gang Yu · 2012 · Brain Research
  38. Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease
    Zachary M. March, Oliver D. King, James Shorter · 2016 · Brain Research
  39. TDP-43 and FUS: a nuclear affair
    Dorothee Dormann, Christian Haass · 2011 · Trends in Neurosciences
  40. Abnormal phosphorylation of Ser409/410 of TDP‐43 in FTLD‐U and ALS
    Yuki Inukai, Takashi Nonaka, Tetsuaki Arai, Mari Yoshida, Yoshio Hashizume, Thomas G. Beach, Emanuele Buratti, Francisco Ernesto Baralle, Haruhiko Akiyama, Shin‐ichi Hisanaga et al. · 2008 · FEBS Letters
  41. Amyotrophic Lateral Sclerosis-associated Proteins TDP-43 and FUS/TLS Function in a Common Biochemical Complex to Co-regulate HDAC6 mRNA*
    Sang Hwa Kim, Naval P. Shanware, Michael J. Bowler, Randal S. Tibbetts · 2010 · Journal of Biological Chemistry
  42. Oxidative Stress in Amyotrophic Lateral Sclerosis: Pathophysiology and Opportunities for Pharmacological Intervention
    Teresa Cunha‐Oliveira, Liliana Montezinho, Catarina Mendes, Omidreza Firuzi, Luciano Saso, Paulo Jorge Oliveira, Filomena S. G. Silva · 2020 · Oxidative Medicine and Cellular Longevity
  43. Sporadic and hereditary amyotrophic lateral sclerosis (ALS)
    Senda Ajroud‐Driss, Teepu Siddique · 2014 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  44. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
    Jianing Yan, Han‐Xiang Deng, N. A. Siddique, Faisal Fecto, W. Chen, Yuan Yang, E. Liu, Sandra C. Donkervoort, J.G. Zheng, Yongyong Shi et al. · 2010 · Neurology
  45. Dysregulated miRNA biogenesis downstream of cellular stress and ALS‐causing mutations: a new mechanism for ALS
    Emde, Anna, Eitan, Chen, Liou, Lee‐Loung, Libby, Ryan T, Rivkin, Natali, Magen, Iddo, Reichenstein, Irit, Oppenheim, Hagar, Eilam, Raya, Silvestroni, Aurelio et al. · 2015 · The EMBO Journal
  46. Inflammation in the early stages of neurodegenerative pathology
    Preeti J. Khandelwal, Alexander M. Herman, Charbel Moussa · 2011 · Journal of Neuroimmunology
  47. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
    Miguel Mitne‐Neto, Marcela Câmara Machado Costa, Maria Carolina Marchetto, Mário Henrique Bengtson, Claudio A.P. Joazeiro, Hiroshi Tsuda, Hugo Jozef Bellen, Helga Cristina Almeida da Silva, Acary Souza Bullé Oliveira, Monize Lazar et al. · 2011 · Human Molecular Genetics
  48. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
    Kelly L. Williams, Simon D. Topp, Shu Yang, Bradley N. Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie E. Farrawell, Caroline A. Vance, Xun Hu et al. · 2016 · Nature Communications
  49. Nuclear localization sequence of FUS and induction of stress granules by ALS mutants
    József Gál, Jia Yu Zhang, David M. Kwinter, Jianjun Zhai, Hongge Jia, Jianhang Jia, Haining Zhu · 2010 · Neurobiology of Aging
  50. Regulation of TDP-43 aggregation by phosphorylation andp62/SQSTM1: Regulation of TDP-43 aggregation by phosphorylation and p62
    Brady, Owen A., Meng, Peter, Zheng, Yanqiu, Mao, Yuxin, Hu, Fenghua · 2011 · Journal of Neurochemistry
  51. The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia
    Ian R. Mackenzie, Rosa Rademakers · 2008 · Current Opinion in Neurology
  52. Mitochondrial dysfunction in amyotrophic lateral sclerosis
    Ping Shi, József Gál, David M. Kwinter, Xiaoyan Liu, Haining Zhu · 2009 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  53. High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis
    Lucia Corrado, Antonia Ratti, Cinzia Gellera, Emanuele Buratti, Barbara Castellotti, Yari Carlomagno, Nicola Ticozzi, Letizia Mazzini, Lucia Testa, Franco Taroni et al. · 2009 · Human Mutation
  54. Mitochondria in Neurodegeneration
    E Lezi, Russell Howard Swerdlow · 2011 · Advances in experimental medicine and biology
  55. Mitochondria as Cellular and Organismal Signaling Hubs
    Koning Shen, Corinne L. Pender, Raz Bar‐Ziv, Hanlin Zhang, Kevin Wickham, Elizabeth Willey, Jenni Durieux, Qazi Ahmad, Andrew G. Dillin · 2022 · Annual Review of Cell and Developmental Biology
  56. Increased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosis
    Kasai, Takashi, Tokuda, Takahiko, Ishigami, Noriko, Sasayama, Hiroshi, Foulds, Penelope, Mitchell, Douglas J., Mann, David M. A., Allsop, David, Nakagawa, Masanori · 2009 · Acta Neuropathologica
  57. Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form
    Aaron Kerman, Hsueh‐Ning Liu, Sidney E. Croul, Juan M. Bilbao, Ekaterina A. Rogaeva, Lorne H. Zinman, Janice Robertson, Avijit Chakrabartty · 2010 · Acta Neuropathologica
  58. Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: Implications for TDP-43 in the physiological response to neuronal injury
    Moisse, Katie, Volkening, Kathryn, Leystra-Lantz, Cheryl, Welch, Ian, Hill, Tracy, Strong, Michael J. · 2009 · Brain Research
  59. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations
    Dirk Bäumer, D. A. Hilton, Simon Paine, Martin R. Turner, James S Lowe, Kevin Talbot, Olaf Ansorge · 2010 · Neurology
  60. A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43
    Nicholas A. Lanson, Astha Maltare, H. King, Rebecca B. Smith, J. H. Kim, J. Paul Taylor, Thomas E. Lloyd, Udai Bhan Pandey · 2011 · Human Molecular Genetics
  61. Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene
    Hongxia Zhou, Cao Huang, Han Chen, Dian Wang, Carlisle P. Landel, Pedro Yuxing Xia, Robert P. Bowser, Yong-Jian Liu, Xu‐Gang Xia · 2010 · PLoS Genetics
  62. Human TBK1: A Gatekeeper of Neuroinflammation
    Ahmad, Liyana, Zhang, Shen-Ying, Casanova, Jean-Laurent, Sancho-Shimizu, Vanessa · 2016 · Trends in Molecular Medicine
  63. A Yeast Model of FUS/TLS-Dependent Cytotoxicity
    Shulin Ju, Daniel F. Tardiff, Haesun Han, Kanneganti Divya, Quan Zhong, Lynne E. Maquat, Daryl A. Bosco, Lawrence J. Hayward, Robert H. Brown, Susan Lee Lindquist et al. · 2011 · PLoS Biology
  64. The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum
    Tim Van Langenhove, Julie van der Zee, Christine Van Broeckhoven · 2012 · Annals of Medicine
  65. The Role of Skeletal Muscle in Amyotrophic Lateral Sclerosis
    Jean‐Philippe Loeffler, Gina Picchiarelli, Luc Dupuis, José‐Luis González de Aguilar · 2016 · Brain Pathology
  66. RNA Dysregulation in Amyotrophic Lateral Sclerosis
    Zoé Butti, Shunmoogum A. Patten · 2019 · Frontiers in Genetics
  67. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
    Gábor Géza Kovács, Jill R. Murrell, Sandor Horvath, Laszlo Haraszti, Katalin Majtényi, Mária Judit Molnár, Herbert Budka, Bernardino Francesco Ghetti, Salvatore Spina · 2009 · Movement Disorders
  68. Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis
    Karin Forsberg, Peter Munch Andersen, Stefan L. Marklund, Thomas Brännström · 2011 · Acta Neuropathologica
  69. RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations
    J. Gavin Daigle, Nicholas A. Lanson, Rebecca B. Smith, Ian Casci, Astha Maltare, J. Monaghan, Charles David Nichols, Dmitry S. Kryndushkin, Frank P. Shewmaker, Udai Bhan Pandey · 2012 · Human Molecular Genetics
  70. Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration
    Agnes Lumi Nishimura, Vera Župunski, Claire Troakes, Claudia Kathe, Pietro Fratta, Michael T. Howell, Jean‐Marc Gallo, Tibor Hortobágyi, Christopher E. Shaw, Boris Rogelj · 2010 · Brain
  71. Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism
    Laura Ferraiuolo, Kathrin Meyer, Thomas W. Sherwood, Jonathan S. Vick, Shibi B. Likhite, Ashley Frakes, Carlos J. Miranda, Lyndsey Braun, Paul Roy Heath, Ricardo Pineda et al. · 2016 · Proceedings of the National Academy of Sciences
  72. FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis
    Edor Kabashi, Valérie Bercier, Alexandra Lissouba, Meijiang Liao, Edna Brustein, Guy Armand Rouleau, Pierre Drapeau · 2011 · PLoS Genetics
  73. Oral Treatment with CuII(atsm) Increases Mutant SOD1 In Vivo but Protects Motor Neurons and Improves the Phenotype of a Transgenic Mouse Model of Amyotrophic Lateral Sclerosis
    Blaine Russell Roberts, Nastasia K.-H. Lim, Erin J. McAllum, Paul S. Donnelly, Dominic James Hare, Philip Doble, Bradley J. Turner, KL Price, SinChun Lim, Brett M. Paterson et al. · 2014 · Journal of Neuroscience
  74. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases
    Matthew E.R. Butchbach · 2016 · Frontiers in Molecular Biosciences
  75. ALS: A bucket of genes, environment, metabolism and unknown ingredients
    Mónica Zufiría, Francisco Javier Gil-Bea, Roberto Fernández‐Torrón, Juan José Poza, José Luís Muñoz-Blanco, Ricard Rojas‐García, Javier Riancho, Adolfo López de Munaín · 2016 · Progress in Neurobiology
  76. Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
    Ferguson, Cole J., Lenk, Guy M., Meisler, Miriam H. · 2009 · Human Molecular Genetics
  77. Prion-like Properties of Tau Protein: The Importance of Extracellular Tau as a Therapeutic Target
    Holmes, Brandon B., Diamond, Marc I. · 2014 · Journal of Biological Chemistry
  78. Loss of TDP-43 causes age-dependent progressive motor neuron degeneration
    Yohei Iguchi, Masahisa Katsuno, Jun-ichi Niwa, Shinnosuke Takagi, Shinsuke Ishigaki, Kensuke Ikenaka, Kaori Kawai, Hirohisa Watanabe, Koji Yamanaka, Ryōsuke Takahashi et al. · 2013 · Brain
  79. Gene therapy for ALS: A review
    Defne A. Amado, Beverly L. Davidson · 2021 · Molecular Therapy
  80. The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids
    P.H. Kuo, Cho‐Han Chiang, Y.-T. Wang, Lyudmila G. Doudeva, Hanna S. Yuan · 2014 · Nucleic Acids Research
  81. Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration–motor neuron disease
    Agnes A. Luty, John B. Kwok, Carol Dobson‐Stone, Clement T. Loy, Kirsten Coupland, Helena Karlström, Tomasz Sobów, Joanna Tchorzewska, Aleksandra Maruszak, Maria Barcikowska et al. · 2010 · Annals of Neurology
  82. Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease
    Natalia B. Nedelsky, J. Paul Taylor · 2019 · Nature Reviews Neurology
  83. TDP-43 in Cerebrospinal Fluid of Patients With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
    Steinacker, Petra, Hendrich, Corinna, Sperfeld, Anne D., Jesse, Sarah, von Arnim, Christine A. F., Lehnert, Stefan, Pabst, Alice, Uttner, Ingo, Tumani, Hayrettin, Lee, Virginia M.-Y. et al. · 2008 · Archives of Neurology
  84. TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity
    Aaron Voigt, David Herholz, Fabienne C. Fiesel, Kavita Kaur, Daniel Müller, Peter Karsten, Stephanie S. Weber, Philipp J. Kahle, Till Marquardt, Jörg Bernhard Schulz · 2010 · PLoS ONE
  85. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
    Hussein Daoud, Paul N. Valdmanis, Edor Kabashi, Patrick A. Dion, Nicolas Dupré, William Camu, Vincent Meininger, Guy Armand Rouleau · 2008 · Journal of Medical Genetics
  86. Tau-mediated disruption of the spliceosome triggers cryptic rna splicing and neurodegeneration in Alzheimer's Disease
    Hsieh, Yi-Chen, Guo, Caiwei, Yalamanchili, Hari K., Abreha, Measho, Al-Ouran, Rami, Li, Yarong, Dammer, Eric B., Lah, James J., Levey, Allan I., Bennett, David A. et al. · 2019 · Cell Reports
  87. Long non‐coding RNA gadd7 interacts with TDP‐43 and regulates Cdk6 mRNA decay
    Xuefeng Liu, Dan Li, Weimin Zhang, Mingzhou Guo, Qimin Zhan · 2012 · The EMBO Journal
  88. The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)
    Michael Joseph Strong · 2009 · Journal of the Neurological Sciences
  89. Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases
    Felix Geser, Maria Martinez‐Lage, Linda K. Kwong, Virginia M.‐Y. Lee, John Q. Trojanowski · 2009 · Journal of Neurology
  90. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: A spectrum of TDP-43 proteinopathies
    Geser, Felix, Lee, Virginia M.-Y., Trojanowski, John Q. · 2010 · Neuropathology
  91. Expression of ALS‐linked TDP‐43 mutant in astrocytes causes non‐cell‐autonomous motor neuron death in rats
    Jianbin Tong, Cao Huang, Fangfang Bi, Qinxue Wu, Bo Huang, Xionghao Liu, Fang Li, Hongxia Zhou, Xu‐Gang Xia · 2013 · The EMBO Journal
  92. Familial Amyotrophic Lateral Sclerosis
    Khrista Boylan · 2015 · Neurologic Clinics
  93. The Pathobiology of TDP-43 C-Terminal Fragments in ALS and FTLD
    Britt A. Berning, Adam K. Walker · 2019 · Frontiers in Neuroscience
  94. ALS-Associated TDP-43 Induces Endoplasmic Reticulum Stress, Which Drives Cytoplasmic TDP-43 Accumulation and Stress Granule Formation
    Adam K. Walker, Kai Ying Soo, Vinod Sundaramoorthy, Sonam Parakh, Yi Ma, Manal A. Farg, Robyn H. Wallace, Peter John Crouch, Bradley J. Turner, Malcolm Kenneth Horne et al. · 2013 · PLoS ONE
  95. Therapeutic promise of carotenoids as antioxidants and anti-inflammatory agents in neurodegenerative disorders
    Md. Tanvir Kabir, Md. Habibur Rahman, Muddaser Shah, Mohd. Raeed Jamiruddin, Debasish Basak, Ahmed Al‐Harrasi, Saurabh Bhatia, Ghulam Md Ashraf, Agnieszka Najda, Attalla Farag El-kott et al. · 2022 · Biomedicine & Pharmacotherapy
  96. Alternative splicing in neurodegenerative disease and the promise of RNA therapies
    David Nikom, Sika Zheng · 2023 · Nature reviews. Neuroscience
  97. Reduced expression of the Kinesin-Associated Protein 3 ( KIFAP3 ) gene increases survival in sporadic amyotrophic lateral sclerosis
    John E. Landers, Judith Melki, Vincent Meininger, Jonathan D. Glass, Leonard H. van den Berg, Michael A. van Es, Peter C. Sapp, Paul W.J. van Vught, Diane M. McKenna-Yasek, Hylke M. Blauw et al. · 2009 · Proceedings of the National Academy of Sciences
  98. Autophagy and ALS: mechanistic insights and therapeutic implications
    Chua, Jason P., De Calbiac, Hortense, Kabashi, Edor, Barmada, Sami J. · 2022 · Autophagy
  99. Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice
    Ya-Fei Xu, Yong‐Jie Zhang, Wen-Lang Lin, Xiangkun Cao, Caroline T. Stetler, Dennis W. Dickson, Jada M. Lewis, Leonard Petrucelli · 2011 · Molecular Neurodegeneration
  100. Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis
    Chunxing Yang, Hongyan Wang, Tao Qiao, Bin Yang, Leonardo Aliaga, Linghua Qiu, Weijia Tan, Johnny S. Salameh, Diane M. McKenna-Yasek, Thomas Smith et al. · 2014 · Proceedings of the National Academy of Sciences