Tardbp

Summary

Gene Symbol: Tardbp
Description: TAR DNA binding protein
Alias: Tdp-43, TAR DNA-binding protein 43
Species: rat

Top Publications

  1. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
  2. doi TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    Jemeen Sreedharan
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
    Science 319:1668-72. 2008
  3. doi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008
  4. doi TDP-43 localizes in mRNA transcription and processing sites in mammalian neurons
    Iñigo Casafont
    Department of Anatomy and Cell Biology and Centro de Investigación Biomedica en Red sobre Enfermedades Neurodegenerativas CIBERNED, University of Cantabria, 39011 Santander, Spain
    J Struct Biol 167:235-41. 2009
  5. pmc Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes
    Chantelle F Sephton
    Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9111, USA
    J Biol Chem 286:1204-15. 2011
  6. ncbi Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Manuela Neumann
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Science 314:130-3. 2006
  7. pmc Templated Aggregation of TAR DNA-binding Protein of 43 kDa (TDP-43) by Seeding with TDP-43 Peptide Fibrils
    Shotaro Shimonaka
    From the Department of Dementia and Higher Brain Function, Tokyo Metropolitan Institute of Medical Science, Tokyo 156 8506 and the Department of Biological Science, Tokyo Metropolitan University, Tokyo 192 0397, Japan
    J Biol Chem 291:8896-907. 2016
  8. pmc Dual vulnerability of TDP-43 to calpain and caspase-3 proteolysis after neurotoxic conditions and traumatic brain injury
    Zhihui Yang
    Center for Neuroproteomics and Biomarkers Research, Department of Psychiatry and Neuroscience, University of Florida, Gainesville, Florida, USA
    J Cereb Blood Flow Metab 34:1444-52. 2014
  9. pmc ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arbor
    Liqun Liu-Yesucevitz
    Department of Pharmacology and Experimental Therapeutics and Department of Neurology, Boston University School of Medicine, Boston, Massachusetts 02118, Center for Regenerative Medicine, Boston University School of Medicine and Boston Medical Center, Boston, Massachusetts 02118, and Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224
    J Neurosci 34:4167-74. 2014
  10. pmc Profiling the genes affected by pathogenic TDP-43 in astrocytes
    Cao Huang
    Department of Anatomy and Neurobiology, School of Basic Medical Science, Central South University, Changsha, China
    J Neurochem 129:932-9. 2014

Scientific Experts

  • Stefanie H Freeman
  • Ann C McKee
  • Salvatore Oddo
  • Osamu Yokota
  • Cao Huang
  • Jianbin Tong
  • Masato Hasegawa
  • Shotaro Shimonaka
  • Liqun Liu-Yesucevitz
  • Zhihui Yang
  • Bo Huang
  • Xu Gang Xia
  • Fangfang Bi
  • Hongxia Zhou
  • Leonard Petrucelli
  • Wenzhang Wang
  • Michaeline L Hebron
  • Wanhe Li
  • Mauricio Budini
  • Robert D Dayton
  • I Piaceri
  • Charbel E H Moussa
  • Cyntia Tremblay
  • Kalavathi Dasuri
  • Vivek Swarup
  • Marialuisa Quadri
  • Veronica Dominguez
  • Giovanni Nardo
  • Chantelle F Sephton
  • Alexander M Herman
  • Victoria E Johnson
  • Kuen Jer Tsai
  • Stephen Sikkink
  • Seishi Terada
  • David M A Mann
  • Emanuele Buratti
  • Yvonne Davidson
  • Hideki Ishizu
  • Stuart Pickering-Brown
  • Polina Kokoulina
  • Haruhiko Akiyama
  • Tetsuaki Arai
  • Antonella Caccamo
  • Guy A Rouleau
  • Eileen H Bigio
  • Iñigo Casafont
  • John Q Trojanowski
  • Jemeen Sreedharan
  • Michael A Gitcho
  • Edor Kabashi
  • Manuela Neumann
  • Genjiro Suzuki
  • Takashi Nonaka
  • Shin Ichi Hisanaga
  • Amy Y Lin
  • Ya Fei Xu
  • Jufang Huang
  • George J Murphy
  • Atsushi Ebata
  • Whitney Reid
  • Fan Lin
  • Claudia S Robertson
  • Kendra Kobrin
  • Joon Y Boon
  • Linda H Yan
  • Kevin K W Wang
  • Benjamin Wolozin
  • Xionghao Liu
  • Wen Lang Lin
  • Puwakdandawe P K Weerasinghe
  • Ashot R Shekoyan
  • Kaydee Sharpe
  • Li Li
  • Qinxue Wu
  • Dennis W Dickson
  • Norah K Algarzae
  • Fang Li
  • Xinglong Wang
  • Teng Zhang
  • Irina Lonskaya
  • Lisa M Schrott
  • F Massaro
  • Francisco E Baralle
  • Lisa Prazak
  • Julio J Ramirez
  • Ying Jin
  • A Tedde
  • M Del Mastio
  • M Paganini
  • Corrado Guarnaccia

Detail Information

Publications32

  1. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
    ..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration...
  2. doi TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    Jemeen Sreedharan
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
    Science 319:1668-72. 2008
    ..We identified neighboring mutations in a highly conserved region of TARDBP in sporadic and familial ALS cases...
  3. doi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008
    ..These findings further corroborate that TDP-43 is involved in ALS pathogenesis...
  4. doi TDP-43 localizes in mRNA transcription and processing sites in mammalian neurons
    Iñigo Casafont
    Department of Anatomy and Cell Biology and Centro de Investigación Biomedica en Red sobre Enfermedades Neurodegenerativas CIBERNED, University of Cantabria, 39011 Santander, Spain
    J Struct Biol 167:235-41. 2009
    ..The specific localization of TDP-43 in active sites of transcription and cotranscriptional splicing is consistent with biochemical data indicating a role of TDP-43 in the regulation of transcription and alternative splicing...
  5. pmc Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes
    Chantelle F Sephton
    Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9111, USA
    J Biol Chem 286:1204-15. 2011
    ..This work thus reveals the protein and RNA components of the TDP-43-containing ribonucleoprotein complexes and provides a framework for understanding how dysregulation of TDP-43 in RNA metabolism contributes to neurodegeneration...
  6. ncbi Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Manuela Neumann
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Science 314:130-3. 2006
    ..TDP-43 represents the common pathologic substrate linking these neurodegenerative disorders...
  7. pmc Templated Aggregation of TAR DNA-binding Protein of 43 kDa (TDP-43) by Seeding with TDP-43 Peptide Fibrils
    Shotaro Shimonaka
    From the Department of Dementia and Higher Brain Function, Tokyo Metropolitan Institute of Medical Science, Tokyo 156 8506 and the Department of Biological Science, Tokyo Metropolitan University, Tokyo 192 0397, Japan
    J Biol Chem 291:8896-907. 2016
    ..e. the peptides appear to act like prion strains. ..
  8. pmc Dual vulnerability of TDP-43 to calpain and caspase-3 proteolysis after neurotoxic conditions and traumatic brain injury
    Zhihui Yang
    Center for Neuroproteomics and Biomarkers Research, Department of Psychiatry and Neuroscience, University of Florida, Gainesville, Florida, USA
    J Cereb Blood Flow Metab 34:1444-52. 2014
    ..This is the first evidence that TDP-43 might be involved in acute neuroinjury and TBI pathology, and that TDP-43 and its fragments may have biomarker utilities in TBI patients. ..
  9. pmc ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arbor
    Liqun Liu-Yesucevitz
    Department of Pharmacology and Experimental Therapeutics and Department of Neurology, Boston University School of Medicine, Boston, Massachusetts 02118, Center for Regenerative Medicine, Boston University School of Medicine and Boston Medical Center, Boston, Massachusetts 02118, and Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224
    J Neurosci 34:4167-74. 2014
    ..These findings highlight novel elements of TDP-43 biology that are affected by disease-linked mutations and suggest a neuronally selective mechanism through which TDP-43 mutations might elicit neuronal dysfunction. ..
  10. pmc Profiling the genes affected by pathogenic TDP-43 in astrocytes
    Cao Huang
    Department of Anatomy and Neurobiology, School of Basic Medical Science, Central South University, Changsha, China
    J Neurochem 129:932-9. 2014
    Mutation in TAR DNA binding protein 43 (TDP-43) is a causative factor of amyotrophic lateral sclerosis and frontotemporal lobar degeneration...
  11. pmc The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons
    Wenzhang Wang
    Department of Pathology, Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Mol Genet 22:4706-19. 2013
    ..Therefore, abnormal mitochondrial dynamics is likely a common feature of ALS which could be potential new therapeutic targets to treat ALS...
  12. pmc Transposable elements in TDP-43-mediated neurodegenerative disorders
    Wanhe Li
    Graduate Program in Molecular and Cellular Biology, Stony Brook University, Stony Brook, New York, United States of America
    PLoS ONE 7:e44099. 2012
    ..Third, we discovered that a large fraction of the TEs to which TDP-43 binds become de-repressed in mouse TDP-43 disease models. We propose the hypothesis that TE mis-regulation contributes to TDP-43 related neurodegenerative diseases...
  13. pmc Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cells
    Giovanni Nardo
    Dulbecco Telethon Institute, Milano, Italy
    PLoS ONE 6:e25545. 2011
    ..Specific molecular biomarkers are urgently needed to facilitate clinical studies and speed up the development of effective treatments...
  14. pmc Acute and chronically increased immunoreactivity to phosphorylation-independent but not pathological TDP-43 after a single traumatic brain injury in humans
    Victoria E Johnson
    Department of Neurosurgery, Penn Center for Brain Injury and Repair, University of Pennsylvania, Philadelphia, PA 19104, USA
    Acta Neuropathol 122:715-26. 2011
    ..Moreover, while single TBI can induce multiple long-term neurodegenerative changes, the absence of TDP-43 proteinopathy may indicate a fundamental difference in the processes induced following single TBI from those of repetitive TBI...
  15. pmc Frontotemporal lobar degeneration-related proteins induce only subtle memory-related deficits when bilaterally overexpressed in the dorsal hippocampus
    Robert D Dayton
    Department of Pharmacology, Toxicology, and Neuroscience, Louisiana State University Health Sciences Center, 1501 Kings Hwy, Shreveport, LA 71130, USA
    Exp Neurol 233:807-14. 2012
    ..The models could be of value for studying mechanisms of FTLD and other diseases with tau and TDP-43 pathology in the hippocampus including Alzheimer's disease, with relevance to early stage mild impairment...
  16. pmc Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
    Marialuisa Quadri
    Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 12:203-9. 2011
    Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson's disease (PD)...
  17. pmc Parkin ubiquitinates Tar-DNA binding protein-43 (TDP-43) and promotes its cytosolic accumulation via interaction with histone deacetylase 6 (HDAC6)
    Michaeline L Hebron
    Department of Neuroscience, Georgetown University Medical Center, Washington, D C 20007, USA
    J Biol Chem 288:4103-15. 2013
    ..Parkin and TDP-43 formed a multiprotein complex with HDAC6, perhaps to mediate TDP-43 translocation. In conclusion, Parkin ubiquitinates TDP-43 and facilitates its cytosolic accumulation through a multiprotein complex with HDAC6...
  18. pmc Age-dependent changes in TDP-43 levels in a mouse model of Alzheimer disease are linked to Aβ oligomers accumulation
    Antonella Caccamo
    Department of Physiology and The Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229 3900, USA
    Mol Neurodegener 5:51. 2010
    ..The role of TDP-43 in AD and its relation with Aβ and tau pathology, the two neuropathological hallmarks of AD, remains to be elucidated...
  19. pmc Expression of ALS-linked TDP-43 mutant in astrocytes causes non-cell-autonomous motor neuron death in rats
    Jianbin Tong
    Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
    EMBO J 32:1917-26. 2013
    ..This motor neuron death likely involves deficiency in neuroprotective genes and induction of neurotoxic genes in astrocytes. ..
  20. pmc Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region
    Mauricio Budini
    International Centre for Genetic Engineering and Biotechnology, 34012 Trieste, Italy
    J Biol Chem 287:7512-25. 2012
    ..In addition, it will be a powerful tool to test novel therapeutic strategies/effectors aimed at preventing/reducing this phenomenon...
  21. doi Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis
    I Piaceri
    Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy
    Clin Genet 82:83-7. 2012
    ..Mutations in Cu/Zn superoxide dismutase (SOD1) and the TAR DNA-binding protein (TARDBP) gene are the most commonly known cause of ALS...
  22. pmc Accumulation of transactive response DNA binding protein 43 in mild cognitive impairment and Alzheimer disease
    Cyntia Tremblay
    Faculte de Pharmacie, Université Laval and Centre Hospitalier de l Université Laval Research Center, Quebec, Canada
    J Neuropathol Exp Neurol 70:788-98. 2011
    ..These data indicate that abnormalities of TDP-43 occur in an important subset of MCI and AD patients and that they correlate with the clinical and neuropathologic features of AD...
  23. doi Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments
    Vivek Swarup
    Centre de Recherche du Centre Hospitalier Universitaire de Québec, Pavillon CHUL, 2705 Boulevard Laurier, Quebec, QC G1V 4G2, Canada
    Brain 134:2610-26. 2011
    ..Yet, mutations in TARDBP, the gene encoding these inclusions are associated with only 3% of sporadic and familial amyotrophic lateral ..
  24. pmc Amino acid analog toxicity in primary rat neuronal and astrocyte cultures: implications for protein misfolding and TDP-43 regulation
    Kalavathi Dasuri
    Pennington Biomedical Research Center, Louisiana State University System, Baton Rouge, LA 70808 4124, USA
    J Neurosci Res 89:1471-7. 2011
    ..Taken together, these data indicate that neurons exhibit preferential toxicity and alterations in TDP-43 in response to increased protein misfolding compared with astrocytes...
  25. pmc β-amyloid triggers ALS-associated TDP-43 pathology in AD models
    Alexander M Herman
    Department of Biochemistry Molecular and Cell Biology, Georgetown University Medical Center, Washington, DC 20007, USA
    Brain Res 1386:191-9. 2011
    ..These data indicate an overlap in TDP-43 pathology between AD and ALS-FTLD and suggest that Aβ triggers modifications of TDP-43...
  26. pmc Class II phosphoinositide 3-kinase regulates exocytosis of insulin granules in pancreatic beta cells
    Veronica Dominguez
    From the Queen Mary University of London, Barts and the London School of Medicine and Dentistry, Blizard Institute of Cell and Molecular Science, Centre for Diabetes, London E1 2AT, United Kingdom
    J Biol Chem 286:4216-25. 2011
    ..Our results reveal a critical role for PI3K-C2α in β cells and suggest that down-regulation of PI3K-C2α may be a feature of type 2 diabetes...
  27. pmc TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathy
    Ann C McKee
    Geriatric Research Education Clinical Center, Bedford Veterans Administration Hospital, Bedford, Massachusetts 01730, USA
    J Neuropathol Exp Neurol 69:918-29. 2010
    ..This is the first pathological evidence that repetitive head trauma experienced in collision sports might be associated with the development of a motor neuron disease...
  28. doi Effect of topographical distribution of α-synuclein pathology on TDP-43 accumulation in Lewy body disease
    Osamu Yokota
    Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, UK
    Acta Neuropathol 120:789-801. 2010
    ..In the amygdala, TDP-43 was often colocalized with α-synuclein or tau. Given these findings, we suggest that α-synuclein pathology is associated with TDP-43 accumulation in LBD cases...
  29. pmc Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U
    Kuen Jer Tsai
    Institute of Clinical Medicine, National Cheng Kung University, Tainan 704, Taiwan
    J Exp Med 207:1661-73. 2010
    ..This FTLD-U mouse model should be valuable for the mechanistic analysis of the role of TDP-43 in the pathogenesis of FTLD-U and for the design of effective therapeutic approaches of the disease...
  30. pmc Caspase-cleaved transactivation response DNA-binding protein 43 in Parkinson's disease and dementia with Lewy bodies
    Polina Kokoulina
    Department of Biology, Boise State University, Boise, Idaho, USA
    Neurodegener Dis 7:243-50. 2010
    ....
  31. pmc Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsy
    Osamu Yokota
    Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, UK
    Acta Neuropathol 120:55-66. 2010
    ..These findings suggest that (1) although PSP is nominally a tauopathy, pathological TDP-43 can accumulate in the limbic system in some cases, and (2) TDP-43 pathology may be concurrent with HS...
  32. ncbi TAR-DNA binding protein 43 in Pick disease
    Stefanie H Freeman
    Department of Pathology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA
    J Neuropathol Exp Neurol 67:62-7. 2008
    ....