Gene Symbol: Tardbp
Description: TAR DNA binding protein
Alias: Tdp-43, TAR DNA-binding protein 43
- TDP-43 A315T mutation in familial motor neuron diseaseMichael 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...
- TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisJemeen 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...
- TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisEdor 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...
- TDP-43 localizes in mRNA transcription and processing sites in mammalian neuronsIñigo 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...
- Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexesChantelle 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...
- Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisManuela 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...
- Templated Aggregation of TAR DNA-binding Protein of 43 kDa (TDP-43) by Seeding with TDP-43 Peptide FibrilsShotaro 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. ..
- Dual vulnerability of TDP-43 to calpain and caspase-3 proteolysis after neurotoxic conditions and traumatic brain injuryZhihui 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. ..
- ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arborLiqun 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. ..
- Profiling the genes affected by pathogenic TDP-43 in astrocytesCao Huang
Department of Anatomy and Neurobiology, School of Basic Medical Science, Central South University, Changsha, China
J Neurochem 129:932-9. 2014Mutation in TAR DNA binding protein 43 (TDP-43) is a causative factor of amyotrophic lateral sclerosis and frontotemporal lobar degeneration...
- The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neuronsWenzhang 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...
- Transposable elements in TDP-43-mediated neurodegenerative disordersWanhe 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...
- Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cellsGiovanni 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...
- Acute and chronically increased immunoreactivity to phosphorylation-independent but not pathological TDP-43 after a single traumatic brain injury in humansVictoria 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...
- Frontotemporal lobar degeneration-related proteins induce only subtle memory-related deficits when bilaterally overexpressed in the dorsal hippocampusRobert 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...
- Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in SardiniaMarialuisa Quadri
Department of Clinical Genetics, Erasmus MC, 3000 CA, Rotterdam, The Netherlands
Neurogenetics 12:203-9. 2011Mutations 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)...
- 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...
- Age-dependent changes in TDP-43 levels in a mouse model of Alzheimer disease are linked to Aβ oligomers accumulationAntonella 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...
- Expression of ALS-linked TDP-43 mutant in astrocytes causes non-cell-autonomous motor neuron death in ratsJianbin 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. ..
- Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich regionMauricio 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...
- Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosisI 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...
- Accumulation of transactive response DNA binding protein 43 in mild cognitive impairment and Alzheimer diseaseCyntia 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...
- Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragmentsVivek 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 ..
- Amino acid analog toxicity in primary rat neuronal and astrocyte cultures: implications for protein misfolding and TDP-43 regulationKalavathi 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...
- β-amyloid triggers ALS-associated TDP-43 pathology in AD modelsAlexander 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...
- Class II phosphoinositide 3-kinase regulates exocytosis of insulin granules in pancreatic beta cellsVeronica 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...
- TDP-43 proteinopathy and motor neuron disease in chronic traumatic encephalopathyAnn 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...
- Effect of topographical distribution of α-synuclein pathology on TDP-43 accumulation in Lewy body diseaseOsamu 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...
- Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-UKuen 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...
- Caspase-cleaved transactivation response DNA-binding protein 43 in Parkinson's disease and dementia with Lewy bodiesPolina Kokoulina
Department of Biology, Boise State University, Boise, Idaho, USA
Neurodegener Dis 7:243-50. 2010....
- Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsyOsamu 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...
- TAR-DNA binding protein 43 in Pick diseaseStefanie 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....