Citations for
1STMN2, TARDBP
Loss of Stathmin-2, a hallmark of TDP-43-associated ALS, causes motor neuropathy.
Krus KL, Strickland A, Yamada Y, Devault L, Schmidt RE, Bloom AJ, Milbrandt J, DiAntonio A.
Cell Rep. Jun 28;39(13):111001. doi: 10.1016/j.celrep.2022.111001. 2022
2TARDBP
Characterization of the human TARDBP gene promoter
Baralle M, Romano M.
Sci Rep. May 17;11(1):10438. doi: 10.1038/s41598-021-89973-z. 2021
3TARDBP
TDP-43 Pathology in Alzheimer's Disease
Meneses A, Koga S, O'Leary J, Dickson DW, Bu G, Zhao N.
Mol Neurodegener. Dec 20;16(1):84. doi: 10.1186/s13024-021-00503-x. 2021
4STMN2, TARDBP
Connecting TDP-43 Pathology with Neuropathy.
Klim JR, Pintacuda G, Nash LA, Guerra San Juan I, Eggan K.
Trends Neurosci. Jun;44(6):424-440. doi: 10.1016/j.tins.2021.02.008. Epub 2021 Apr 5. 2021
5PSMG2, TARDBP
Cytoplasmic TDP-43 impairs the activity of the ubiquitin-proteasome system.
Yin P, Bai D, Zhu L, Deng F, Guo X, Li B, Chen L, Li S, Li XJ.
Exp Neurol. Nov;345:113833. doi: 10.1016/j.expneurol.2021.113833. Epub 2021 Aug 5. 2021
6PTK2, TARDBP
PTK2/FAK regulates UPS impairment via SQSTM1/p62 phosphorylation in TARDBP/TDP-43 proteinopathies
Lee S, Jeon YM, Cha SJ, Kim S, Kwon Y, Jo M, Jang YN, Lee S, Kim J, Kim SR, Lee KJ, Lee SB, Kim K, Kim HJ.
Autophagy. Aug;16(8):1396-1412. doi: 10.1080/15548627.2019.1686729. Epub 2019 Nov 5. 2020
7TARDBP
The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies
Jo M, Lee S, Jeon YM, Kim S, Kwon Y, Kim HJ.
Exp Mol Med. Oct;52(10):1652-1662. doi: 10.1038/s12276-020-00513-7. Epub 2020 Oct 13. 2020
8TARDBP
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium, Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L.
J Clin Invest. Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. 2020
9ALS10, TARDBP
Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis
Prasad A, Bharathi V, Sivalingam V, Girdhar A, Patel BK.
Front Mol Neurosci. Feb 14;12:25. doi: 10.3389/fnmol.2019.00025. 2019
10STMN2, TARDBP
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration
Melamed Z, López-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, Freyermuth F, McMahon MA, Beccari MS, Artates JW, Ohkubo T, Rodriguez M, Lin N, Wu D, Bennett CF, Rigo F, Da Cruz S, Ravits J, Lagier-Tourenne C, Cleveland DW.
Nat Neurosci. Feb;22(2):180-190. doi: 10.1038/s41593-018-0293-z. Epub 2019 Jan 14. 2019
11ATG4B, TARDBP
Cryptic exon splicing function of TARDBP interacts with autophagy in nervous tissue.
Torres P, Ramírez-Núńez O, Romero-Guevara R, Barés G, Granado-Serrano AB, Ayala V, Boada J, Fontdevila L, Povedano M, Sanchís D, Pamplona R, Ferrer I, Portero-Otín M.
Autophagy ;14(8):1398-1403. doi: 10.1080/15548627.2018.1474311. Epub 2018 Jul 28. 2018
12FMR1, TARDBP
Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP.
Majumder P, Chu JF, Chatterjee B, Swamy KB, Shen CJ.
Acta Neuropathol 132(5):721-738. Epub 2016 Aug 12. 2016
13TARDBP
The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity.
Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, Jiang S, Ma X, Jiang Z, da Rocha EL, Sheng M, Choi H, Lerou PH, Li H, Wang X.
Nat Med. Aug;22(8):869-78. doi: 10.1038/nm.4130. Epub 2016 Jun 27. 2016
14TARDBP
Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43
Koyama A, Sugai A, Kato T, Ishihara T, Shiga A, Toyoshima Y, Koyama M, Konno T, Hirokawa S, Yokoseki A, Nishizawa M, Kakita A, Takahashi H, Onodera O.
Nucleic Acids Res. Jul 8;44(12):5820-36. doi: 10.1093/nar/gkw499. Epub 2016 Jun 2. 2016
15ALS10, TARDBP, TTBK1, TTBK2
The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.
Liachko NF, McMillan PJ, Strovas TJ, Loomis E, Greenup L, Murrell JR, Ghetti B, Raskind MA, Montine TJ, Bird TD, Leverenz JB, Kraemer BC.
PLoS Genet LoS Genet. 2014 2014
16GSK3B, RMDN3, TARDBP
ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43
Stoica R, De Vos KJ, Paillusson S, Mueller S, Sancho RM, Lau KF, Vizcay-Barrena G, Lin WL, Xu YF, Lewis J, Dickson DW, Petrucelli L, Mitchell JC, Shaw CE, Miller CC.
Nat Commun. Jun 3;5:3996. doi: 10.1038/ncomms4996 2014
17TARDBP
Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis.
Ishihara T, Ariizumi Y, Shiga A, Kato T, Tan CF, Sato T, Miki Y, Yokoo M, Fujino T, Koyama A, Yokoseki A, Nishizawa M, Kakita A, Takahashi H, Onodera O.
Hum Mol Genet 22(20):4136-47. doi: 10.1093/hmg/ddt262. Epub 2013 Jun 4. 2013
18HDAC6, PRKN, TARDBP
Parkin ubiquitinates Tar-DNA binding protein-43 (TDP-43) and promotes its cytosolic accumulation via interaction with histone deacetylase 6 (HDAC6).
Hebron ML, Lonskaya I, Sharpe K, Weerasinghe PP, Algarzae NK, Shekoyan AR, Moussa CE.
J Biol Chem 288(6):4103-15. doi: 10.1074/jbc.M112.419945. Epub 2012 Dec 20. 2013
19TARDBP
Structural transformation of the amyloidogenic core region of TDP-43 protein initiates its aggregation and cytoplasmic inclusion
Jiang LL, Che MX, Zhao J, Zhou CJ, Xie MY, Li HY, He JH, Hu HY.
J Biol Chem. Jul 5;288(27):19614-24. doi: 10.1074/jbc.M113.463828. Epub 2013 May 20. 2013
20TARDBP
TDP-43 associates with stalled ribosomes and contributes to cell survival during cellular stress
Higashi S, Kabuta T, Nagai Y, Tsuchiya Y, Akiyama H, Wada K.
J Neurochem. Jul;126(2):288-300. doi: 10.1111/jnc.12194. Epub 2013 Mar 1 2013
21FMR1, STAU1, TARDBP
Neurodegeneration-associated TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells.
Yu Z, Fan D, Gui B, Shi L, Xuan C, Shan L, Wang Q, Shang Y, Wang Y.
J Biol Chem 287(27):22560-72. Epub 2012 May 14. 2012
22TARDBP
TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes.
Kawahara Y, Mieda-Sato A.
Proc Natl Acad Sci U S A. 109(9):3347-52. 2012
23TARDBP
Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism.
Keller BA, Volkening K, Droppelmann CA, Ang LC, Rademakers R, Strong MJ.
Acta Neuropathol. 124(5):733-47 2012
24TARDBP
Nucleus Accumbens 1, a Pox virus and Zinc finger/Bric-a-brac Tramtrack Broad protein binds to TAR DNA-binding protein 43 and has a potential role in Amyotrophic Lateral Sclerosis.
Scofield MD, Korutla L, Jackson TG, Kalivas PW, Mackler SA.
Neuroscience. 227:44-54. 2012
25TARDBP
p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions.
Tanji K, Zhang HX, Mori F, Kakita A, Takahashi H, Wakabayashi K.
J Neurosci Res. 90(10):2034-42 2012
26LGMN, TARDBP
Asparaginyl endopeptidase cleaves TDP-43 in brain.
Herskowitz JH, Gozal YM, Duong DM, Dammer EB, Gearing M, Ye K, Lah JJ, Peng J, Levey AI, Seyfried NT.
Proteomics 12(15-16):2455-63. doi: 10.1002/pmic.201200006. 2012
27EGR2, TARDBP
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
Postel-Vinay S, Véron AS, Tirode F, Pierron G, Reynaud S, Kovar H, Oberlin O, Lapouble E, Ballet S, Lucchesi C, Kontny U, González-Neira A, Picci P, Alonso J, Patino-Garcia A, de Paillerets BB, Laud K, Dina C, Froguel P, Clavel-Chapelon F, Doz F, Michon J, Chanock SJ, Thomas G, Cox DG, Delattre O.
Nat Genet 44(3):323-7. doi: 10.1038/ng.1085. 2012
28CDC37, MAPT, TARDBP
Cdc37/Hsp90 protein complex disruption triggers an autophagic clearance cascade for TDP-43 protein.
Jinwal UK, Abisambra JF, Zhang J, Dharia S, O'Leary JC, Patel T, Braswell K, Jani T, Gestwicki JE, Dickey CA.
J Biol Chem 287(29):24814-20. doi: 10.1074/jbc.M112.367268. Epub 2012 Jun 6. 2012
29ALS10, TARDBP
The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth.
Fallini C, Bassell GJ, Rossoll W.
Hum Mol Genet 21(16):3703-18. doi: 10.1093/hmg/dds205. Epub 2012 May 28. 2012
30TARDBP
The N-terminus of TDP-43 promotes its oligomerization and enhances DNA binding affinity.
Chang CK, Wu TH, Wu CY, Chiang MH, Toh EK, Hsu YC, Lin KF, Liao YH, Huang TH, Huang JJ.
Biochem Biophys Res Commun 425(2):219-24. doi: 10.1016/j.bbrc.2012.07.071. Epub 2012 Jul 23. 2012
31DBR1, TARDBP
TDP-43 toxicity and the usefulness of junk.
Sun S, Cleveland DW.
Nat Genet 44(12):1289-91. doi: 10.1038/ng.2473. 2012
32DBR1, TARDBP
Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models.
Armakola M, Higgins MJ, Figley MD, Barmada SJ, Scarborough EA, Diaz Z, Fang X, Shorter J, Krogan NJ, Finkbeiner S, Farese RV Jr, Gitler AD.
Nat Genet 44(12):1302-9. doi: 10.1038/ng.2434. Epub 2012 Oct 28. 2012
33TARDBP
Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43.
Wang IF, Guo BS, Liu YC, Wu CC, Yang CH, Tsai KJ, Shen CK.
Proc Natl Acad Sci U S A 109(37):15024-9. doi: 10.1073/pnas.1206362109. 2012
34FMR1, STAU1, TARDBP
Neurodegeneration-associated TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells.
Yu Z, Fan D, Gui B, Shi L, Xuan C, Shan L, Wang Q, Shang Y, Wang Y.
J Biol Chem 287(27):22560-72. doi: 10.1074/jbc.M112.357582. Epub 2012 May 14. 2012
35TARDBP
TDP-43 regulates its mRNA levels through a negative feedback loop.
Ayala YM, De Conti L, Avendańo-Vázquez SE, Dhir A, Romano M, D'Ambrogio A, Tollervey J, Ule J, Baralle M, Buratti E, Baralle FE.
EMBO J 30(2):277-88. Epub 2010 Dec 3. 2011
36TARDBP
Regulation of TDP-43 aggregation by phosphorylation and p62/SQSTM1.
Brady OA, Meng P, Zheng Y, Mao Y, Hu F.
J Neurochem 116(2):248-59. doi: 10.1111/j.1471-4159.2010.07098.x. Epub 2010 Dec 2. 2011
37TARDBP
TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor.
Dewey CM, Cenik B, Sephton CF, Dries DR, Mayer P 3rd, Good SK, Johnson BA, Herz J, Yu G.
Mol Cell Biol 31(5):1098-108. Epub 2010 Dec 20. 2011
38TARDBP
TDP-43: multiple targets, multiple disease mechanisms?
Sendtner M.
Nat Neurosci. 14(4):403-5. 2011
39BCL2L1, BCL2L11, TARDBP
TDP-43-induced death is associated with altered regulation of BIM and Bcl-xL and attenuated by caspase-mediated TDP-43 cleavage.
Suzuki H, Lee K, Matsuoka M.
J Biol Chem 286(15):13171-83. Epub 2011 Feb 21. 2011
40TARDBP
TDP-43 neurotoxicity and protein aggregation modulated by heat shock factor and insulin/IGF-1 signaling.
Zhang T, Mullane PC, Periz G, Wang J.
Hum Mol Genet 20(10):1952-65. Epub 2011 Feb 25. 2011
41MAP1B, TARDBP
TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization.
Godena VK, Romano G, Romano M, Appocher C, Klima R, Buratti E, Baralle FE, Feiguin F.
PLoS One 6(3):e17808. doi: 10.1371/journal.pone.0017808. 2011
42TARDBP
TDP-43 functions and pathogenic mechanisms implicated in TDP-43 proteinopathies.
Cohen TJ, Lee VM, Trojanowski JQ.
Trends Mol Med. 17(11):659-67. 2011
43TARDBP
Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43.
Nishimoto Y, Ito D, Yagi T, Nihei Y, Tsunoda Y, Suzuki N.
J Biol Chem 285(1):608-19. Epub 2009 Nov 3.PMID: 19887443 2010
44TARDBP
TDP-43 is a developmentally regulated protein essential for early embryonic development.
Sephton CF, Good SK, Atkin S, Dewey CM, Mayer P 3rd, Herz J, Yu G.
J Biol Chem 285(9):6826-34. Epub 2009 Dec 29.PMID: 20040602 2010
45ALS10, TARDBP
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.
Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, Rochefort D, Bel Hadj S, Durham HD, Vande Velde C, Rouleau GA, Drapeau P.
Hum Mol Genet 19(4):671-83. Epub 2009 Dec 3.PMID: 19959528 2010
46FUS, TARDBP
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.
Lagier-Tourenne C, Polymenidou M, Cleveland DW.
Hum Mol Genet 19(R1):R46-64. Epub 2010 Apr 15. Review.PMID: 20400460 2010
47ALS10, ALS6, FUS, TARDBP
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.
Ling SC, Albuquerque CP, Han JS, Lagier-Tourenne C, Tokunaga S, Zhou H, Cleveland DW.
Proc Natl Acad Sci U S A 107(30):13318-23. Epub 2010 Jul 12.PMID: 20624952 2010
48ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.
J Med Genet 47(8):554-60. Epub 2010 Jun 24.PMID: 20577002 2010
49ALS10, ATXN2, TARDBP
Neurodegeneration: An expansion in ALS genetics.
Lagier-Tourenne C, Cleveland DW.
Nature 466(7310):1052-3. No abstract available. 2010
50ATXN2, TARDBP
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rüb U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD.
Nature 466(7310):1069-75. 2010
51TARDBP, TBC1D1
Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism.
Chiang PM, Ling J, Jeong YH, Price DL, Aja SM, Wong PC.
Proc Natl Acad Sci U S A 107(37):16320-4. Epub 2010 Jul 26.PMID: 20660762 2010
52TARDBP
Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice.
Shan X, Chiang PM, Price DL, Wong PC.
Proc Natl Acad Sci U S A 107(37):16325-30. Epub 2010 Aug 24.PMID: 20736350 2010
53FUS, HDAC6, TARDBP
Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA.
Kim SH, Shanware NP, Bowler MJ, Tibbetts RS.
J Biol Chem 285(44):34097-105. Epub 2010 Aug 18. 2010
54TARDBP
Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6.
Fiesel FC, Voigt A, Weber SS, Van den Haute C, Waldenmaier A, Görner K, Walter M, Anderson ML, Kern JV, Rasse TM, Schmidt T, Springer W, Kirchner R, Bonin M, Neumann M, Baekelandt V, Alunni-Fabbroni M, Schulz JB, Kahle PJ.
EMBO J. 29(1):209-21. 2010
55ALS6, FUS, TARDBP
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.
Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.
Science 323(5918):1205-8. 2009
56ALS6, FUS, TARDBP
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.
Science 323(5918):1208-11. 2009
57ALS6, FUS, TARDBP
Rethinking ALS: the FUS about TDP-43.
Lagier-Tourenne C, Cleveland DW.
Cell 136(6):1001-4. Review. 2009
58TARDBP
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity.
Zhang YJ, Xu YF, Cook C, Gendron TF, Roettges P, Link CD, Lin WL, Tong J, Castanedes-Casey M, Ash P, Gass J, Rangachari V, Buratti E, Baralle F, Golde TE, Dickson DW, Petrucelli L.
Proc Natl Acad Sci U S A 106(18):7607-12. Epub 2009 Apr 21. 2009
59ALS10, TARDBP
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.
Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau GA.
J Med Genet 46(2):112-4. Epub 2008 Oct 17. 2009
60TARDBP
TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases.
Iguchi Y, Katsuno M, Niwa J, Yamada S, Sone J, Waza M, Adachi H, Tanaka F, Nagata K, Arimura N, Watanabe T, Kaibuchi K, Sobue G.
J Biol Chem 284(33):22059-66. Epub 2009 Jun 17.PMID: 19535326 2009
61ALS10, FTLD, TARDBP
Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis.
Pesiridis GS, Lee VM, Trojanowski JQ.
Hum Mol Genet 18(R2):R156-62. Review.PMID: 19808791 2009
62TARDBP
Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1.
Kim SH, Shi Y, Hanson KA, Williams LM, Sakasai R, Bowler MJ, Tibbetts RS.
J Biol Chem. 284(12):8083-92. 2009
63GRN, FTDU17, TARDBP
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.
Shankaran SS, Capell A, Hruscha AT, Fellerer K, Neumann M, Schmid B, Haass C.
J Biol Chem 283(3):1744-53. Epub 2007 Nov 5. 2008
64TARDBP, ALS10
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.
Science 319(5870):1668-72. Epub 2008 Feb 28. 2008
65TARDBP, CDK6
TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression.
Ayala YM, Misteli T, Baralle FE.
Proc Natl Acad Sci U S A 105(10):3785-9. Epub 2008 Feb 27. 2008
66TARDBP, GRN
Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration.
Chen-Plotkin AS, Geser F, Plotkin JB, Clark CM, Kwong LK, Yuan W, Grossman M, Van Deerlin VM, Trojanowski JQ, Lee VM.
Hum Mol Genet 17(10):1349-62. Epub 2008 Jan 25. 2008
67TARDBP, ALS10
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.
Nat Genet 40(5):572-4. Epub 2008 Mar 30. 2008
68SMN2, TARDBP
TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing.
Bose JK, Wang IF, Hung L, Tarn WY, Shen CK.
J Biol Chem 283(43):28852-9. Epub 2008 Aug 14. 2008
69ALS10, TARDBP, TDP-43, TDP43
TDP-43: an emerging new player in neurodegenerative diseases
I-Fan Wang*, Lien-Szu Wu* and C-K. James Shen
Trends in Molecular Medicine 14(11):479-85 2008
70ALS10, TARDBP
TDP-43 A315T mutation in familial motor neuron disease.
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ.
Ann Neurol 63(4):535-8.PMID: 18288693 2008
71TARDBP
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease.
Buratti E, Baralle FE.
Front Biosci. 13:867-78. 2008
72ALS10, FTLD, TARDBP
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.
Seelaar H, Schelhaas HJ, Azmani A, Küsters B, Rosso S, Majoor-Krakauer D, de Rijik MC, Rizzu P, ten Brummelhuis M, van Doorn PA, Kamphorst W, Willemsen R, van Swieten JC.
Brain 130(Pt 5):1375-85. Epub 2007 Mar 14. 2007
73ALS10, ALSPD, FTLD, TARDBP
TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.
Hasegawa M, Arai T, Akiyama H, Nonaka T, Mori H, Hashimoto T, Yamazaki M, Oyanagi K.
Brain 130(Pt 5):1386-94. Epub 2007 Apr 17. 2007
74FTLD, TARDBP, VCP
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.
Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis VE, Forman MS.
J Neuropathol Exp Neurol 66(2):152-7. 2007
75NEFL, TARDBP
TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein.
Strong MJ, Volkening K, Hammond R, Yang W, Strong W, Leystra-Lantz C, Shoesmith C.
Mol Cell Neurosci 35(2):320-7. Epub 2007 Mar 20. 2007
76TARDBP, GRN
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM.
Science 314(5796):130-3. 2006
77TARDBP
Structural diversity and functional implications of the eukaryotic TDP gene family.
Wang HY, Wang IF, Bose J, Shen CK.
Genomics 83(1):130-9. 2004
78TARDBP
Structural diversity and functional implications of the eukaryotic TDP gene family.
Wang HY, Wang IF, Bose J, Shen CK.
Genomics 83(1):130-9. 2004
79ANGPTL7, EXOSC10, MASP2, TARDBP
The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.
Stover C, Endo Y, Takahashi M, Lynch NJ, Constantinescu C, Vorup-Jensen T,Thiel S, Friedl H, Hankeln T, Hall R, Gregory S, Fujita T, Schwaeble W.
Genes Immun 2(3):119-27. 2001
80TARDBP
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9.
Buratti E, Baralle FE.
J Biol Chem 276(39):36337-43. Epub 2001 Jul 24. 2001
81AIF1L, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1B, APOLD1, ARMC4, ATXN10, C10orf10, C10orf10, C10orf118, C2orf14, C2orf16, C6orf60, C6orf62, C8orf71, CALCOCO1, CAMKK1, CCDC113, CCDC135, CCDC9, CCDC90B, CCNB2, CD99L2, CHPF, CLIC4, CLPB, CRELD1, CYBRD1, DDX47, DHRS7B, ESPN, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GOLT1B, GPS2, GRIPAP1, HIGD1A, IER3IP1, KIF18A, KIRREL2, KLC2, LHX6, LMAN2L, MAF1, MED23, MIS12, MOB4, MYCBPAP, NCALD, NELF, NELFB, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, PCBD2, PMFBP1, PRPF31, PRSS23, QRSL1, RGMA, RGMB, RNF123, RNF146, RWDD3, SAMHD1, SECISBP2, SEMA4F, SERBP1, SERP1, SH3BP5L, SLC25A24, SLC25A39, SLC37A3, SLC41A2, SLC6A16, SMC6, SPEF1, STMN2, TARDBP, TBC1D3, TBL2, TFIP11, TIGD6, TIMMDC1, TMEM117, TMEM186, TNB, TRAF7, TRAPPC8, TSC22D3, TSPAN14, TWF2, UBA5, UNC50, WDR24, WDR37, WDR91, WSB1, YIPF3, ZC3H13, ZMYND12, ZMYND15, ZRANB3
Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A.
Genome Res 11(3):422-35. 2001
82ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W.
Genome Res 10(5):703-13. 2000
83KIF22, TARDBP
Kid, a novel kinesin-like DNA binding protein, is localized to chromosomes and the mitotic spindle.
Tokai N, Fujimoto-Nishiyama A, Toyoshima Y, Yonemura S, Tsukita S, InoueJ, Yamamota T.
EMBO J 15(3):457-67. 1996
84TARDBP
Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs.
Ou SH, Wu F, Harrich D, Garcia-Martinez LF, Gaynor RB.
J Virol 69(6):3584-96. 1995