Misregulated RNA processing in amyotrophic lateral sclerosis

Brain Research

Volumn 1462, Issue , 2012, Pages 3-15

  Polymenidou, Magdalini ^a   Lagier Tourenne, Clotilde ^a   Hutt, Kasey R ^a   Bennett, C Frank ^b   Cleveland, Don W ^a   Yeo, Gene W ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b ISIS PHARMACEUTICALS   (United States)

Author keywords

Amyotrophic lateral sclerosis; C9orf72; Frontotemporal dementia; FUS TLS; RNA processing; TDP 43

Indexed keywords

DNA BINDING PROTEIN; RNA; RNA BINDING PROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; AUTOREGULATION; BRAIN NERVE CELL; C9ORF72 GENE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; HUMAN; NEUROPATHOLOGY; NEUROTOXICITY; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; RNA PROCESSING; SYNAPSE;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; DNA-BINDING PROTEINS; FRONTOTEMPORAL LOBAR DEGENERATION; HOMEOSTASIS; HUMANS; RNA; RNA-BINDING PROTEIN FUS; RNA-BINDING PROTEINS; TDP-43 PROTEINOPATHIES;

EID: 84862115153     PISSN: 00068993     EISSN: 18726240     Source Type: Journal    
DOI: 10.1016/j.brainres.2012.02.059     Document Type: Review

References (161)

1. M.M. Abhyankar, C. Urekar, and P.P. Reddi A novel CpG-free vertebrate insulator silences the testis-specific SP-10 gene in somatic tissues: role for TDP-43 in insulator function J. Biol. Chem. 282 2007 36143 36154
2. K.K. Acharya, C.K. Govind, A.N. Shore, M.H. Stoler, and P.P. Reddi cis-requirement for the maintenance of round spermatid-specific transcription Dev. Biol. 295 2006 781 790 (Pubitemid 43927709)
3. H. Aizawa, J. Sawada, T. Hideyama, T. Yamashita, T. Katayama, N. Hasebe, T. Kimura, O. Yahara, and S. Kwak TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2 Acta Neuropathol. 120 2010 75 84
4. S. Al-Sarraj, A. King, C. Troakes, B. Smith, S. Maekawa, I. Bodi, B. Rogelj, A. Al-Chalabi, T. Hortobagyi, and C.E. Shaw p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS Acta Neuropathol. 122 2011 691 702
5. A. Ameur, A. Zaghlool, J. Halvardson, A. Wetterbom, U. Gyllensten, L. Cavelier, and L. Feuk Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain Nat. Struct. Mol. Biol. 18 2011 1435 1440
6. M.K. Andersson, A. Stahlberg, Y. Arvidsson, A. Olofsson, H. Semb, G. Stenman, O. Nilsson, and P. Aman The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response BMC Cell Biol. 9 2008 37
7. T. Arai, M. Hasegawa, H. Akiyama, K. Ikeda, T. Nonaka, H. Mori, D. Mann, K. Tsuchiya, M. Yoshida, Y. Hashizume, and T. Oda TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Biochem. Biophys. Res. Commun. 351 2006 602 611 (Pubitemid 44708852)
8. Y.M. Ayala, L. De Conti, S.E. Avendano-Vazquez, A. Dhir, M. Romano, A. D'Ambrogio, J. Tollervey, J. Ule, M. Baralle, E. Buratti, and F.E. Baralle TDP-43 regulates its mRNA levels through a negative feedback loop EMBO J. 2011
9. A. Belly, F. Moreau-Gachelin, R. Sadoul, and Y. Goldberg Delocalization of the multifunctional RNA splicing factor TLS/FUS in hippocampal neurones: exclusion from the nucleus and accumulation in dendritic granules and spine heads Neurosci. Lett. 379 2005 152 157 (Pubitemid 40544525)
10. L. Benajiba, I. Le Ber, A. Camuzat, M. Lacoste, C. Thomas-Anterion, P. Couratier, S. Legallic, F. Salachas, D. Hannequin, M. Decousus, L. Lacomblez, E. Guedj, V. Golfier, W. Camu, B. Dubois, D. Campion, V. Meininger, and A. Brice TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration Ann. Neurol. 65 2009 470 473
11. A. Bertolotti, B. Bell, and L. Tora The N-terminal domain of human TAFII68 displays transactivation and oncogenic properties Oncogene 18 1999 8000 8010 (Pubitemid 30050561)
12. I.P. Blair, K.L. Williams, S.T. Warraich, J.C. Durnall, A.D. Thoeng, J. Manavis, P.C. Blumbergs, S. Vucic, M.C. Kiernan, and G.A. Nicholson FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis J. Neurol. Neurosurg. Psychiatry 2009
13. A. Bodansky, J.M. Kim, L. Tempest, A. Velagapudi, R. Libby, and J. Ravits TDP-43 and ubiquitinated cytoplasmic aggregates in sporadic ALS are low frequency and widely distributed in the lower motor neuron columns independent of disease spread Amyotroph Lateral Scler. 11 2010 321 327
14. S. Boillee, C. Vande Velde, and D.W. Cleveland ALS: a disease of motor neurons and their nonneuronal neighbors Neuron 52 2006 39 59 (Pubitemid 44466358)
15. B. Borroni, C. Bonvicini, A. Alberici, E. Buratti, C. Agosti, S. Archetti, A. Papetti, C. Stuani, M. Di Luca, M. Gennarelli, and A. Padovani Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease Hum. Mutat. 30 2009 E974 E983
16. D.A. Bosco, N. Lemay, H.K. Ko, H. Zhou, C. Burke, T.J. Kwiatkowski Jr., P. Sapp, D. McKenna-Yasek, R.H. Brown Jr., and L.J. Hayward Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules Hum. Mol. Genet. 19 2011 4160 4175
17. J. Brettschneider, D.J. Libon, J.B. Toledo, S.X. Xie, L. McCluskey, L. Elman, F. Geser, V.M. Lee, M. Grossman, and J.Q. Trojanowski Microglial activation and TDP-43 pathology correlate with executive dysfunction in amyotrophic lateral sclerosis Acta Neuropathol. 2012
18. L.I. Bruijn, M.K. Houseweart, S. Kato, K.L. Anderson, S.D. Anderson, E. Ohama, A.G. Reaume, R.W. Scott, and D.W. Cleveland Aggregation and motor neuron toxicity of an ALS-linked SOD1 mutant independent from wild-type SOD1 Science 281 1998 1851 1854 (Pubitemid 28450505)
19. E. Buratti, and F.E. Baralle Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9 J. Biol. Chem. 276 2001 36337 36343
20. E. Buratti, and F.E. Baralle Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease Front. Biosci. 13 2008 867 878 (Pubitemid 351594732)
21. E. Buratti, T. Dork, E. Zuccato, F. Pagani, M. Romano, and F.E. Baralle Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping EMBO J. 20 2001 1774 1784 (Pubitemid 32299413)
22. E. Buratti, L. De Conti, C. Stuani, M. Romano, M. Baralle, and F. Baralle Nuclear factor TDP-43 can affect selected microRNA levels FEBS J. 277 2010 2268 2281
23. R.J. Caselli, A.J. Windebank, R.C. Petersen, T. Komori, J.E. Parisi, H. Okazaki, E. Kokmen, R. Iverson, R.P. Dinapoli, and N.R. Graff-Radford Rapidly progressive aphasic dementia and motor neuron disease Ann. Neurol. 33 1993 200 207 (Pubitemid 23039929)
24. Y.Z. Chen, C.L. Bennett, H.M. Huynh, I.P. Blair, I. Puls, J. Irobi, I. Dierick, A. Abel, M.L. Kennerson, B.A. Rabin, G.A. Nicholson, M. Auer-Grumbach, K. Wagner, P. De Jonghe, J.W. Griffin, K.H. Fischbeck, V. Timmerman, D.R. Cornblath, and P.F. Chance DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) Am. J. Hum. Genet. 74 2004 1128 1135 (Pubitemid 38669312)
25. S.W. Chi, J.B. Zang, A. Mele, and R.B. Darnell Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps Nature 460 2009 479 486
26. C. Colombrita, E. Zennaro, C. Fallini, M. Weber, A. Sommacal, E. Buratti, V. Silani, and A. Ratti TDP-43 is recruited to stress granules in conditions of oxidative insult J. Neurochem. 111 2009 1051 1061
27. J. Couthouis, M.P. Hart, J. Shorter, M. Dejesus-Hernandez, R. Erion, R. Oristano, A.X. Liu, D. Ramos, N. Jethava, D. Hosangadi, J. Epstein, A. Chiang, Z. Diaz, T. Nakaya, F. Ibrahim, H.J. Kim, J.A. Solski, K.L. Williams, J. Mojsilovic-Petrovic, C. Ingre, K. Boylan, N.R. Graff-Radford, D.W. Dickson, D. Clay-Falcone, L. Elman, L. McCluskey, R. Greene, R.G. Kalb, V.M. Lee, J.Q. Trojanowski, A. Ludolph, W. Robberecht, P.M. Andersen, G.A. Nicholson, I.P. Blair, O.D. King, N.M. Bonini, V. Van Deerlin, R. Rademakers, Z. Mourelatos, and A.D. Gitler Feature article: from the cover: a yeast functional screen predicts new candidate ALS disease genes Proc. Natl. Acad. Sci. U. S. A. 108 2011 20881 20890
28. M. Cushman, B.S. Johnson, O.D. King, A.D. Gitler, and J. Shorter Prion-like disorders: blurring the divide between transmissibility and infectivity J. Cell Sci. 123 2010 1191 1201
29. R. Dahm, M. Kiebler, and P. Macchi RNA localisation in the nervous system Semin. Cell Dev. Biol. 18 2007 216 223 (Pubitemid 46756364)
30. H. Daoud, and G.A. Rouleau A role for ubiquilin 2 mutations in neurodegeneration Nat. Rev. Neurol. 7 2011 599 600
31. M. DeJesus-Hernandez, I.R. Mackenzie, B.F. Boeve, A.L. Boxer, M. Baker, N.J. Rutherford, A.M. Nicholson, N.A. Finch, H. Flynn, J. Adamson, N. Kouri, A. Wojtas, P. Sengdy, G.Y. Hsiung, A. Karydas, W.W. Seeley, K.A. Josephs, G. Coppola, D.H. Geschwind, Z.K. Wszolek, H. Feldman, D.S. Knopman, R.C. Petersen, B.L. Miller, D.W. Dickson, K.B. Boylan, N.R. Graff-Radford, and R. Rademakers Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS Neuron 72 2011 245 256
32. R. Del Bo, C. Tiloca, V. Pensato, L. Corrado, A. Ratti, N. Ticozzi, S. Corti, B. Castellotti, L. Mazzini, G. Soraru, C. Cereda, S. D'Alfonso, C. Gellera, G.P. Comi, and V. Silani Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis J. Neurol. Neurosurg. Psychiatry 82 2011 1239 1243
33. H.X. Deng, W. Chen, S.T. Hong, K.M. Boycott, G.H. Gorrie, N. Siddique, Y. Yang, F. Fecto, Y. Shi, H. Zhai, H. Jiang, M. Hirano, E. Rampersaud, G.H. Jansen, S. Donkervoort, E.H. Bigio, B.R. Brooks, K. Ajroud, R.L. Sufit, J.L. Haines, E. Mugnaini, M.A. Pericak-Vance, and T. Siddique Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Nature 477 2011 211 215
34. C.M. Dewey, B. Cenik, C.F. Sephton, D.R. Dries, P. Mayer III, S.K. Good, B.A. Johnson, J. Herz, and G. Yu TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor Mol. Cell. Biol. 31 2011 1098 1108
35. J.T. Dimos, K.T. Rodolfa, K.K. Niakan, L.M. Weisenthal, H. Mitsumoto, W. Chung, G.F. Croft, G. Saphier, R. Leibel, R. Goland, H. Wichterle, C.E. Henderson, and K. Eggan Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons Science 321 2008 1218 1221
36. D. Dormann, R. Rodde, D. Edbauer, E. Bentmann, I. Fischer, A. Hruscha, M.E. Than, I.R. Mackenzie, A. Capell, B. Schmid, M. Neumann, and C. Haass ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import EMBO J. 29 2011 2841 2857
37. B.K. Dredge, G. Stefani, C.C. Engelhard, and R.B. Darnell Nova autoregulation reveals dual functions in neuronal splicing EMBO J. 24 2005 1608 1620 (Pubitemid 40646450)
38. A.C. Elden, H.J. Kim, M.P. Hart, A.S. Chen-Plotkin, B.S. Johnson, X. Fang, M. Armakola, F. Geser, R. Greene, M.M. Lu, A. Padmanabhan, D. Clay-Falcone, L. McCluskey, L. Elman, D. Juhr, P.J. Gruber, U. Rub, G. Auburger, J.Q. Trojanowski, V.M. Lee, V.M. Van Deerlin, N.M. Bonini, and A.D. Gitler Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS Nature 466 2010 1069 1075
39. G. Elvira, S. Wasiak, V. Blandford, X.K. Tong, A. Serrano, X. Fan, M. del Rayo Sanchez-Carbente, F. Servant, A.W. Bell, D. Boismenu, J.C. Lacaille, P.S. McPherson, L. DesGroseillers, and W.S. Sossin Characterization of an RNA granule from developing brain Mol. Cell Proteomic. 5 2006 635 651
40. F. Feiguin, V.K. Godena, G. Romano, A. D'Ambrogio, R. Klima, and F.E. Baralle Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior FEBS Lett. 583 2009 1586 1592
41. F.C. Fiesel, S.S. Weber, J. Supper, A. Zell, and P.J. Kahle TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR Nucleic Acids Res. 2011
42. B.D. Freibaum, R.K. Chitta, A.A. High, and J.P. Taylor Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery J. Proteome Res. 9 2010 1104 1120
43. C. Fugier, A.F. Klein, C. Hammer, S. Vassilopoulos, Y. Ivarsson, A. Toussaint, V. Tosch, A. Vignaud, A. Ferry, N. Messaddeq, Y. Kokunai, R. Tsuburaya, P. de la Grange, D. Dembele, V. Francois, G. Precigout, C. Boulade-Ladame, M.C. Hummel, A.L. de Munain, N. Sergeant, A. Laquerriere, C. Thibault, F. Deryckere, D. Auboeuf, L. Garcia, P. Zimmermann, B. Udd, B. Schoser, M.P. Takahashi, I. Nishino, G. Bassez, J. Laporte, D. Furling, and N. Charlet-Berguerand Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy Nat. Med. 17 2011 720 725
44. R. Fujii, S. Okabe, T. Urushido, K. Inoue, A. Yoshimura, T. Tachibana, T. Nishikawa, G.G. Hicks, and T. Takumi The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology Curr. Biol. 15 2005 587 593 (Pubitemid 40413401)
45. K. Fujita, H. Ito, S. Nakano, Y. Kinoshita, R. Wate, and H. Kusaka Immunohistochemical identification of messenger RNA-related proteins in basophilic inclusions of adult-onset atypical motor neuron disease Acta Neuropathol. 116 2008 439 445
46. J. Gal, J. Zhang, D.M. Kwinter, J. Zhai, H. Jia, J. Jia, and H. Zhu Nuclear localization sequence of FUS and induction of stress granules by ALS mutants Neurobiol. Aging 32 2323 2011 e27 e40
47. I. Gijselinck, T. Van Langenhove, J. van der Zee, K. Sleegers, S. Philtjens, G. Kleinberger, J. Janssens, K. Bettens, C. Van Cauwenberghe, S. Pereson, S. Engelborghs, A. Sieben, P. De Jonghe, R. Vandenberghe, P. Santens, J. De Bleecker, G. Maes, V. Baumer, L. Dillen, G. Joris, I. Cuijt, E. Corsmit, E. Elinck, J. Van Dongen, S. Vermeulen, M. Van den Broeck, C. Vaerenberg, M. Mattheijssens, K. Peeters, W. Robberecht, P. Cras, J.J. Martin, P.P. De Deyn, M. Cruts, and C. Van Broeckhoven A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study Lancet Neurol. 11 2011 54 65
48. M.T. Giordana, M. Piccinini, S. Grifoni, G. De Marco, M. Vercellino, M. Magistrello, A. Pellerino, B. Buccinna, E. Lupino, and M.T. Rinaudo TDP-43 redistribution is an early event in sporadic amyotrophic lateral sclerosis Brain Pathol. 2009
49. M.A. Gitcho, R.H. Baloh, S. Chakraverty, K. Mayo, J.B. Norton, D. Levitch, K.J. Hatanpaa, C.L. White III, E.H. Bigio, R. Caselli, M. Baker, M.T. Al-Lozi, J.C. Morris, A. Pestronk, R. Rademakers, A.M. Goate, and N.J. Cairns TDP-43 A315T mutation in familial motor neuron disease Ann. Neurol. 63 2008 535 538 (Pubitemid 351614720)
50. M.A. Gitcho, E.H. Bigio, M. Mishra, N. Johnson, S. Weintraub, M. Mesulam, R. Rademakers, S. Chakraverty, C. Cruchaga, J.C. Morris, A.M. Goate, and N.J. Cairns TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy Acta Neuropathol. 118 2009 633 645
51. M.J. Greenway, P.M. Andersen, C. Russ, S. Ennis, S. Cashman, C. Donaghy, V. Patterson, R. Swingler, D. Kieran, J. Prehn, K.E. Morrison, A. Green, K.R. Acharya, R.H. Brown Jr., and O. Hardiman ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis Nat. Genet. 38 2006 411 413
52. R.I. Gregory, K.P. Yan, G. Amuthan, T. Chendrimada, B. Doratotaj, N. Cooch, and R. Shiekhattar The Microprocessor complex mediates the genesis of microRNAs Nature 432 2004 235 240 (Pubitemid 39545855)
53. W. Guo, Y. Chen, X. Zhou, A. Kar, P. Ray, X. Chen, E.J. Rao, M. Yang, H. Ye, L. Zhu, J. Liu, M. Xu, Y. Yang, C. Wang, D. Zhang, E.H. Bigio, M. Mesulam, Y. Shen, Q. Xu, K. Fushimi, and J.Y. Wu An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity Nat. Struct. Mol. Biol. 18 2011 822 830
54. M.E. Gurney, H. Pu, A.Y. Chiu, M.C. Dal Canto, C.Y. Polchow, D.D. Alexander, J. Caliendo, A. Hentati, Y.W. Kwon, and H.X. Deng Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation Science 264 1994 1772 1775 (Pubitemid 24227760)
55. M. Hafner, M. Landthaler, L. Burger, M. Khorshid, J. Hausser, P. Berninger, A. Rothballer, M. Ascano Jr., A.C. Jungkamp, M. Munschauer, A. Ulrich, G.S. Wardle, S. Dewell, M. Zavolan, and T. Tuschl Transcriptome-wide identification of RNA-binding protein and microRNA target sites by PAR-CLIP Cell 141 2010 129 141
56. P.J. Hagerman, and R.J. Hagerman The fragile-X premutation: a maturing perspective Am. J. Hum. Genet. 74 2004 805 816 (Pubitemid 38568956)
57. S.S. Han, L.A. Williams, and K.C. Eggan Constructing and deconstructing stem cell models of neurological disease Neuron 70 2011 626 644
58. Y. Hirose, and J.L. Manley RNA polymerase II and the integration of nuclear events Genes Dev. 14 2000 1415 1429 (Pubitemid 30421835)
59. J.I. Hoell, E. Larsson, S. Runge, J.D. Nusbaum, S. Duggimpudi, T.A. Farazi, M. Hafner, A. Borkhardt, C. Sander, and T. Tuschl RNA targets of wild-type and mutant FET family proteins Nat. Struct. Mol. Biol. 18 2011 1428 1431
60. C. Huang, P.Y. Xia, and H. Zhou Sustained expression of TDP-43 and FUS in motor neurons in rodent's lifetime Int. J. Biol. Sci. 6 2010 396 406
61. L.M. Igaz, L.K. Kwong, E.B. Lee, A. Chen-Plotkin, E. Swanson, T. Unger, J. Malunda, Y. Xu, M.J. Winton, J.Q. Trojanowski, and V.M. Lee Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice J. Clin. Invest. 2011
62. A. Iida, N. Hosono, M. Sano, T. Kamei, S. Oshima, T. Tokuda, M. Kubo, Y. Nakamura, and S. Ikegawa Optineurin mutations in Japanese amyotrophic lateral sclerosis J. Neurol. Neurosurg. Psychiatry 2011
63. H. Ilieva, M. Polymenidou, and D.W. Cleveland Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond J. Cell Biol. 187 2009 761 772
64. D. Ito, M. Seki, Y. Tsunoda, H. Uchiyama, and N. Suzuki Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS Ann. Neurol. 69 2011 152 162
65. C.K. Iwahashi, D.H. Yasui, H.J. An, C.M. Greco, F. Tassone, K. Nannen, B. Babineau, C.B. Lebrilla, R.J. Hagerman, and P.J. Hagerman Protein composition of the intranuclear inclusions of FXTAS Brain 129 2006 256 271 (Pubitemid 43063776)
66. Y.M. Jiang, M. Yamamoto, Y. Kobayashi, T. Yoshihara, Y. Liang, S. Terao, H. Takeuchi, S. Ishigaki, M. Katsuno, H. Adachi, J. Niwa, F. Tanaka, M. Doyu, M. Yoshida, Y. Hashizume, and G. Sobue Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis Ann. Neurol. 57 2005 236 251 (Pubitemid 40179862)
67. P. Jin, R. Duan, A. Qurashi, Y. Qin, D. Tian, T.C. Rosser, H. Liu, Y. Feng, and S.T. Warren Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome Neuron 55 2007 556 564 (Pubitemid 47223639)
68. B.S. Johnson, D. Snead, J.J. Lee, J.M. McCaffery, J. Shorter, and A.D. Gitler TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity J. Biol. Chem. 284 2009 20329 20339
69. E. Kabashi, P.N. Valdmanis, P. Dion, D. Spiegelman, B.J. McConkey, C. Vande Velde, J.P. Bouchard, L. Lacomblez, K. Pochigaeva, F. Salachas, P.F. Pradat, W. Camu, V. Meininger, N. Dupre, and G.A. Rouleau TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis Nat. Genet. 40 2008 572 574 (Pubitemid 351601218)
70. S. Kameoka, P. Duque, and M.M. Konarska p54(nrb) associates with the 5′ splice site within large transcription/splicing complexes EMBO J. 23 2004 1782 1791 (Pubitemid 38649641)
71. R.N. Kanadia, K.A. Johnstone, A. Mankodi, C. Lungu, C.A. Thornton, D. Esson, A.M. Timmers, W.W. Hauswirth, and M.S. Swanson A muscleblind knockout model for myotonic dystrophy Science 302 2003 1978 1980 (Pubitemid 37523508)
72. Y. Kanai, N. Dohmae, and N. Hirokawa Kinesin transports RNA: isolation and characterization of an RNA-transporting granule Neuron 43 2004 513 525 (Pubitemid 39094678)
73. Y. Kawahara, K. Ito, H. Sun, H. Aizawa, I. Kanazawa, and S. Kwak Glutamate receptors: RNA editing and death of motor neurons Nature 427 2004 801
74. S. Kindler, H. Wang, D. Richter, and H. Tiedge RNA transport and local control of translation Annu. Rev. Cell Dev. Biol. 21 2005 223 245 (Pubitemid 41740634)
75. G.G. Kovacs, J.R. Murrell, S. Horvath, L. Haraszti, K. Majtenyi, M.J. Molnar, H. Budka, B. Ghetti, and S. Spina TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea Mov. Disord. 24 2009 1843 1847
76. B.C. Kraemer, T. Schuck, J.M. Wheeler, L.C. Robinson, J.Q. Trojanowski, V.M. Lee, and G.D. Schellenberg Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis Acta Neuropathol. 2010
77. P.H. Kuo, L.G. Doudeva, Y.T. Wang, C.K. Shen, and H.S. Yuan Structural insights into TDP-43 in nucleic-acid binding and domain interactions Nucleic Acids Res. 37 2009 1799 1808
78. T.J. Kwiatkowski, J.D. Bosco, A.D. LeClerc, E. Tamrazian, C.R. Van den Berg, C. Russ, A. Davis, J. Gilchrist, E.J. Kasarskis, T. Munsat, P.N. Valdmanis, G.A. Rouleau, B.A. Hosler, P. Cortelli, P.J. de Jong, Y. Yoshinaga, J.L. Haines, M. Pericak-Vance, J. Yan, N. Ticozza, T. Siddique, D. McKenna-Yasek, P.C. Sapp, H.R. Horvitz, J.E. Landers, and R.H. Brown Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis Science 2009
79. C. Lagier-Tourenne, M. Polymenidou, and D.W. Cleveland TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration Hum. Mol. Genet. 19 2010 R46 R64
80. A.S. Lalmansingh, C.J. Urekar, and P.P. Reddi TDP-43 is a transcriptional repressor: the testis-specific mouse acrv1 gene is a TDP-43 target in vivo J. Biol. Chem. 286 2011 10970 10982
81. L.F. Lareau, M. Inada, R.E. Green, J.C. Wengrod, and S.E. Brenner Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements Nature 446 2007 926 929 (Pubitemid 46633161)
82. W.J. Law, K.L. Cann, and G.G. Hicks TLS, EWS and TAF15: a model for transcriptional integration of gene expression Brief. Funct. Genomic Proteomic. 5 2006 8 14 (Pubitemid 46402988)
83. E.B. Lee, V.M. Lee, and J.Q. Trojanowski Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration Nat. Rev. Neurosci. 13 2012 38 50
84. S. Li, and G.F. Hu Angiogenin-mediated rRNA transcription in cancer and neurodegeneration Int. J. Biochem. Mol. Biol. 1 2011 26 35
85. D.D. Licatalosi, A. Mele, J.J. Fak, J. Ule, M. Kayikci, S.W. Chi, T.A. Clark, A.C. Schweitzer, J.E. Blume, X. Wang, J.C. Darnell, and R.B. Darnell HITS-CLIP yields genome-wide insights into brain alternative RNA processing Nature 456 2008 464 469 (Pubitemid 352759008)
86. P. Lillo, S. Savage, E. Mioshi, M.C. Kiernan, and J.R. Hodges Amyotrophic lateral sclerosis and frontotemporal dementia: a behavioural and cognitive continuum Amyotroph. Lateral Scler. 13 2012 102 109
87. C.L. Lin, L.A. Bristol, L. Jin, M. Dykes-Hoberg, T. Crawford, L. Clawson, and J.D. Rothstein Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis Neuron 20 1998 589 602 (Pubitemid 28153087)
88. S. Lin, G. Coutinho-Mansfield, D. Wang, S. Pandit, and X.D. Fu The splicing factor SC35 has an active role in transcriptional elongation Nat. Struct. Mol. Biol. 15 2008 819 826
89. S.C. Ling, C.P. Albuquerque, J.S. Han, C. Lagier-Tourenne, S. Tokunaga, H. Zhou, and D.W. Cleveland ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS Proc. Natl. Acad. Sci. U. S. A. 107 2010 13318 13323
90. L. Liu-Yesucevitz, A. Bilgutay, Y.J. Zhang, T. Vanderwyde, A. Citro, T. Mehta, N. Zaarur, A. McKee, R. Bowser, M. Sherman, L. Petrucelli, and B. Wolozin Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue PLoS One 5 2010 e13250
91. C. Lomen-Hoerth, T. Anderson, and B. Miller The overlap of amyotrophic lateral sclerosis and frontotemporal dementia Neurology 59 2002 1077 1079
92. Y. Lu, J. Ferris, and F.B. Gao Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching Mol. Brain. 2 2009 30
93. A. Malaspina, N. Kaushik, and J. de Belleroche Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays J. Neurochem. 77 2001 132 145 (Pubitemid 32245087)
94. A. Mankodi, E. Logigian, L. Callahan, C. McClain, R. White, D. Henderson, M. Krym, and C.A. Thornton Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat Science 289 2000 1769 1773
95. A. Mankodi, P. Teng-Umnuay, M. Krym, D. Henderson, M. Swanson, and C.A. Thornton Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2 Ann. Neurol. 54 2003 760 768 (Pubitemid 37498959)
96. J.M. Margolis, B.G. Schoser, M.L. Moseley, J.W. Day, and L.P. Ranum DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression Hum. Mol. Genet. 15 2006 1808 1815 (Pubitemid 43821771)
97. H. Maruyama, H. Morino, H. Ito, Y. Izumi, H. Kato, Y. Watanabe, Y. Kinoshita, M. Kamada, H. Nodera, H. Suzuki, O. Komure, S. Matsuura, K. Kobatake, N. Morimoto, K. Abe, N. Suzuki, M. Aoki, A. Kawata, T. Hirai, T. Kato, K. Ogasawara, A. Hirano, T. Takumi, H. Kusaka, K. Hagiwara, R. Kaji, and H. Kawakami Mutations of optineurin in amyotrophic lateral sclerosis Nature 465 2010 223 226
98. K.K. McDonald, A. Aulas, L. Destroismaisons, S. Pickles, E. Beleac, W. Camu, G.A. Rouleau, and C. Vande Velde TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1 Hum. Mol. Genet. 20 2011 1400 1410
99. J. Meyerowitz, S.J. Parker, L.J. Vella, D. Ng, K.A. Price, J.R. Liddell, A. Caragounis, Q.X. Li, C.L. Masters, T. Nonaka, M. Hasegawa, M.A. Bogoyevitch, K.M. Kanninen, P.J. Crouch, and A.R. White C-Jun N-terminal kinase controls TDP-43 accumulation in stress granules induced by oxidative stress Mol. Neurodegener. 6 2011 57
100. S. Millecamps, S. Boillee, E. Chabrol, W. Camu, C. Cazeneuve, F. Salachas, P.F. Pradat, V. Danel-Brunaud, N. Vandenberghe, P. Corcia, N. Le Forestier, L. Lacomblez, G. Bruneteau, D. Seilhean, A. Brice, J. Feingold, V. Meininger, and E. LeGuern Screening of OPTN in French familial amyotrophic lateral sclerosis Neurobiol. Aging 32 557 2011 e11 e13
101. S. Millecamps, P. Corcia, C. Cazeneuve, S. Boillee, D. Seilhean, V. Danel-Brunaud, N. Vandenberghe, P.F. Pradat, N. Le Forestier, L. Lacomblez, G. Bruneteau, W. Camu, A. Brice, V. Meininger, E. Leguern, and F. Salachas Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis Neurobiol. Aging 2011
102. J.W. Miller, C.R. Urbinati, P. Teng-Umnuay, M.G. Stenberg, B.J. Byrne, C.A. Thornton, and M.S. Swanson Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy EMBO J. 19 2000 4439 4448
103. K. Moisse, K. Volkening, C. Leystra-Lantz, I. Welch, T. Hill, and M.J. Strong Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: implications for TDP-43 in the physiological response to neuronal injury Brain Res. 1249 2009 202 211
104. F. Morohoshi, Y. Ootsuka, K. Arai, H. Ichikawa, S. Mitani, N. Munakata, and M. Ohki Genomic structure of the human RBP56/hTAFII68 and FUS/TLS genes Gene 221 1998 191 198 (Pubitemid 29023746)
105. M.E. Murray, M. Dejesus-Hernandez, N.J. Rutherford, M. Baker, R. Duara, N.R. Graff-Radford, Z.K. Wszolek, T.J. Ferman, K.A. Josephs, K.B. Boylan, R. Rademakers, and D.W. Dickson Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 Acta Neuropathol. 122 2011 673 690
106. D. Neary, J.S. Snowden, L. Gustafson, U. Passant, D. Stuss, S. Black, M. Freedman, A. Kertesz, P.H. Robert, M. Albert, K. Boone, B.L. Miller, J. Cummings, and D.F. Benson Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria Neurology 51 1998 1546 1554
107. D. Neary, J.S. Snowden, and D.M. Mann Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) J. Neurol. Sci. 180 2000 15 20
108. M. Neumann, D.M. Sampathu, L.K. Kwong, A.C. Truax, M.C. Micsenyi, T.T. Chou, J. Bruce, T. Schuck, M. Grossman, C.M. Clark, L.F. McCluskey, B.L. Miller, E. Masliah, I.R. Mackenzie, H. Feldman, W. Feiden, H.A. Kretzschmar, J.Q. Trojanowski, and V.M. Lee Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 2006 130 133 (Pubitemid 44547757)
109. M. Neumann, R. Rademakers, S. Roeber, M. Baker, H.A. Kretzschmar, and I.R. Mackenzie A new subtype of frontotemporal lobar degeneration with FUS pathology Brain 132 2009 2922 2931
110. M. Neumann, E. Bentmann, D. Dormann, A. Jawaid, M. DeJesus-Hernandez, O. Ansorge, S. Roeber, H.A. Kretzschmar, D.G. Munoz, H. Kusaka, O. Yokota, L.C. Ang, J. Bilbao, R. Rademakers, C. Haass, and I.R. Mackenzie FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations Brain 134 2011 2595 2609
111. J.Z. Ni, L. Grate, J.P. Donohue, C. Preston, N. Nobida, G. O'Brien, L. Shiue, T.A. Clark, J.E. Blume, and M. Ares Jr. Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay Genes Dev. 21 2007 708 718 (Pubitemid 46440292)
112. S.H. Ou, F. Wu, D. Harrich, L.F. Garcia-Martinez, and R.B. Gaynor Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs J. Virol. 69 1995 3584 3596
113. D. Parkhomchuk, T. Borodina, V. Amstislavskiy, M. Banaru, L. Hallen, S. Krobitsch, H. Lehrach, and A. Soldatov Transcriptome analysis by strand-specific sequencing of complementary DNA Nucleic Acids Res. 37 2009 e123
114. P. Pasinelli, and R.H. Brown Molecular biology of amyotrophic lateral sclerosis: insights from genetics Nat. Rev. Neurosci. 7 2006 710 723 (Pubitemid 44267495)
115. M. Passoni, L. De Conti, M. Baralle, and E. Buratti UG repeats/TDP-43 interactions near 5′ splice sites exert unpredictable effects on splicing modulation J. Mol. Biol. 2011
116. M. Polymenidou, C. Lagier-Tourenne, K.R. Hutt, S.C. Huelga, J. Moran, T.Y. Liang, S.C. Ling, E. Sun, E. Wancewicz, C. Mazur, H. Kordasiewicz, Y. Sedaghat, J.P. Donohue, L. Shiue, C.F. Bennett, G.W. Yeo, and D.W. Cleveland Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43 2011 Nat Neurosci
117. S.J. Rabin, J.M. Kim, M. Baughn, R.T. Libby, Y.J. Kim, Y. Fan, A. La Spada, B. Stone, and J. Ravits Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology Hum. Mol. Genet. 19 2010 313 328
118. L.P. Ranum, and T.A. Cooper RNA-mediated neuromuscular disorders Annu. Rev. Neurosci. 29 2006 259 277 (Pubitemid 44476846)
119. A.E. Renton, E. Majounie, A. Waite, J. Simon-Sanchez, S. Rollinson, J.R. Gibbs, J.C. Schymick, H. Laaksovirta, J.C. van Swieten, L. Myllykangas, H. Kalimo, A. Paetau, Y. Abramzon, A.M. Remes, A. Kaganovich, S.W. Scholz, J. Duckworth, J. Ding, D.W. Harmer, D.G. Hernandez, J.O. Johnson, K. Mok, M. Ryten, D. Trabzuni, R.J. Guerreiro, R.W. Orrell, J. Neal, A. Murray, J. Pearson, I.E. Jansen, D. Sondervan, H. Seelaar, D. Blake, K. Young, N. Halliwell, J.B. Callister, G. Toulson, A. Richardson, A. Gerhard, J. Snowden, D. Mann, D. Neary, M.A. Nalls, T. Peuralinna, L. Jansson, V.M. Isoviita, A.L. Kaivorinne, M. Holtta-Vuori, E. Ikonen, R. Sulkava, M. Benatar, J. Wuu, A. Chio, G. Restagno, G. Borghero, M. Sabatelli, D. Heckerman, E. Rogaeva, L. Zinman, J.D. Rothstein, M. Sendtner, C. Drepper, E.E. Eichler, C. Alkan, Z. Abdullaev, S.D. Pack, A. Dutra, E. Pak, J. Hardy, A. Singleton, N.M. Williams, P. Heutink, S. Pickering-Brown, H.R. Morris, P.J. Tienari, and B.J. Traynor A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD Neuron 72 2011 257 268
120. G.M. Ringholz, S.H. Appel, M. Bradshaw, N.A. Cooke, D.M. Mosnik, and P.E. Schulz Prevalence and patterns of cognitive impairment in sporadic ALS Neurology 65 2005 586 590 (Pubitemid 41170719)
121. S. Rollinson, J. Bennion, G. Toulson, N. Halliwell, S. Usher, J. Snowden, A. Richardson, D. Neary, D. Mann, and S.M. Pickering-Brown Analysis of optineurin in frontotemporal lobar degeneration Neurobiol. Aging 33 425 2012 e1 e2
122. D.R. Rosen, T. Siddique, D. Patterson, D.A. Figlewicz, P. Sapp, A. Hentati, D. Donaldson, J. Goto, J.P. O'Regan, and H.X. Deng Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis Nature 362 1993 59 62 (Pubitemid 23087289)
123. A.L. Saltzman, Y.K. Kim, Q. Pan, M.M. Fagnani, L.E. Maquat, and B.J.
124. C. Sellier, F. Rau, Y. Liu, F. Tassone, R.K. Hukema, R. Gattoni, A. Schneider, S. Richard, R. Willemsen, D.J. Elliott, P.J. Hagerman, and N. Charlet-Berguerand Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients EMBO J. 29 2011 1248 1261
125. C.F. Sephton, S.K. Good, S. Atkin, C.M. Dewey, P. Mayer III, J. Herz, and G. Yu TDP-43 is a developmentally regulated protein essential for early embryonic development J. Biol. Chem. 285 2010 6826 6834
126. C.F. Sephton, C. Cenik, A. Kucukural, E.B. Dammer, B. Cenik, Y.H. Han, C.M. Dewey, F.P. Roth, J. Herz, J. Peng, M.J. Moore, and G. Yu Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes J. Biol. Chem. 2011
127. X. Shan, P.M. Chiang, D.L. Price, and P.C. Wong Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice Proc. Natl. Acad. Sci. U. S. A. 107 2010 16325 16330
128. J. Sreedharan, I.P. Blair, V.B. Tripathi, X. Hu, C. Vance, B. Rogelj, S. Ackerley, J.C. Durnall, K.L. Williams, E. Buratti, F. Baralle, J. de Belleroche, J.D. Mitchell, P.N. Leigh, A. Al-Chalabi, C.C. Miller, G. Nicholson, and C.E. Shaw TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis Science 319 2008 1668 1672 (Pubitemid 351432505)
129. K. Sugihara, H. Maruyama, M. Kamada, H. Morino, and H. Kawakami Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population Neurobiol. Aging 32 1923 2011 e9 e10
130. Z. Sun, Z. Diaz, X. Fang, M.P. Hart, A. Chesi, J. Shorter, and A.D. Gitler Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS PLoS Biol. 9 2011 e1000614
131. A. Sureau, R. Gattoni, Y. Dooghe, J. Stevenin, and J. Soret SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs EMBO J. 20 2001 1785 1796 (Pubitemid 32299414)
132. A.Y. Tan, and J.L. Manley The TET family of proteins: functions and roles in disease J. Mol. Cell Biol. 1 2009 82 92
133. F. Tang, K. Lao, and M.A. Surani Development and applications of single-cell transcriptome analysis Nat. Methods 8 2011 S6 S11
134. F. Tassone, R.J. Hagerman, D. Garcia-Arocena, E.W. Khandjian, C.M. Greco, and P.J. Hagerman Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome J. Med. Genet. 41 2004 e43
135. T. Tateishi, T. Hokonohara, R. Yamasaki, S. Miura, H. Kikuchi, A. Iwaki, H. Tashiro, H. Furuya, Y. Nagara, Y. Ohyagi, N. Nukina, T. Iwaki, Y. Fukumaki, and J.I. Kira Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation Acta. Neuropathol. 2009
136. N. Ticozzi, V. Silani, A.L. LeClerc, P. Keagle, C. Gellera, A. Ratti, F. Taroni, T.J. Kwiatkowski Jr., D.M. McKenna-Yasek, P.C. Sapp, R.H. Brown Jr., and J.E. Landers Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort Neurology 73 2009 1180 1185
137. N. Ticozzi, C. Vance, A.L. Leclerc, P. Keagle, J.D. Glass, D. McKenna-Yasek, P.C. Sapp, V. Silani, D.A. Bosco, C.E. Shaw, R.H. Brown Jr., and J.E. Landers Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis Am. J. Med. Genet. B Neuropsychiatr. Genet. 156B 2011 285 290
138. J.R. Tollervey, T. Curk, B. Rogelj, M. Briese, M. Cereda, M. Kayikci, J. Konig, T. Hortobagyi, A.L. Nishimura, V. Zupunski, R. Patani, S. Chandran, G. Rot, B. Zupan, C.E. Shaw, and J. Ule Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 Nat. Neurosci. 14 2011 452 458
139. N. Trakooljul, J.A. Hicks, and H.C. Liu Identification of target genes and pathways associated with chicken microRNA miR-143 Anim. Genet. 41 2009 357 364
140. C. Troakes, S. Maekawa, L. Wijesekera, B. Rogelj, L. Siklos, C. Bell, B. Smith, S. Newhouse, C. Vance, L. Johnson, T. Hortobagyi, A. Shatunov, A. Al-Chalabi, N. Leigh, C.E. Shaw, A. King, and S. Al-Sarraj An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline Neuropathology 2011
141. K.J. Tsai, C.H. Yang, Y.H. Fang, K.H. Cho, W.L. Chien, W.T. Wang, T.W. Wu, C.P. Lin, W.M. Fu, and C.K. Shen Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U J. Exp. Med. 207 2010 1661 1673
142. Z. Tumer, B. Bertelsen, O. Gredal, M. Magyari, K.C. Nielsen, Lucamp, K. Gronskov, and K. Brondum-Nielsen A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS Neurobiol. Aging 33 2012 e1 e5
143. J. Ule, K.B. Jensen, M. Ruggiu, A. Mele, A. Ule, and R.B. Darnell CLIP identifies Nova-regulated RNA networks in the brain Science 302 2003 1212 1215 (Pubitemid 37421026)
144. M. van Blitterswijk, P.W. van Vught, M.A. van Es, H.J. Schelhaas, A.J. van der Kooi, M. de Visser, J.H. Veldink, and L.H. van den Berg Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients Neurobiol. Aging 2011
145. V.M. Van Deerlin, J.B. Leverenz, L.M. Bekris, T.D. Bird, W. Yuan, L.B. Elman, D. Clay, E.M. Wood, A.S. Chen-Plotkin, M. Martinez-Lage, E. Steinbart, L. McCluskey, M. Grossman, M. Neumann, I.L. Wu, W.S. Yang, R. Kalb, D.R. Galasko, T.J. Montine, J.Q. Trojanowski, V.M. Lee, G.D. Schellenberg, and C.E. Yu TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis Lancet Neurol. 7 2008 409 416
146. T. Van Langenhove, J. van der Zee, K. Sleegers, S. Engelborghs, R. Vandenberghe, I. Gijselinck, M. Van den Broeck, M. Mattheijssens, K. Peeters, P.P. De Deyn, M. Cruts, and C. Van Broeckhoven Genetic contribution of FUS to frontotemporal lobar degeneration Neurology 74 2010 366 371
147. C. Vance, B. Rogelj, T. Hortobagyi, K.J. De Vos, A.L. Nishimura, J. Sreedharan, X. Hu, B. Smith, D.M. Ruddy, P. Wright, J. Ganeslingam, K.L. Williams, V.B. Tripathi, S. Al-Saraj, A. Al-Chalabi, P.N. Leigh, I.P. Blair, G. Nicholson, J. de Belleroche, J. Gallo, C.C. Miller, and C.E. Shaw Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 Science 2009
148. A. Voigt, D. Herholz, F.C. Fiesel, K. Kaur, D. Muller, P. Karsten, S.S. Weber, P.J. Kahle, T. Marquardt, and J.B. Schulz TDP-43-mediated neuron loss in vivo requires RNA-binding activity PLoS One 5 2010 e12247
149. X.S. Wang, Z. Simmons, W. Liu, P.J. Boyer, and J.R. Connor Differential expression of genes in amyotrophic lateral sclerosis revealed by profiling the post mortem cortex Amyotroph. Lateral Scler. 7 2006 201 210
150. I.F. Wang, L.S. Wu, H.Y. Chang, and C.K. Shen TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor J. Neurochem. 105 2008 797 806
151. I.F. Wang, L.S. Wu, and C.K. Shen TDP-43: an emerging new player in neurodegenerative diseases Trends Mol. Med. 14 2008 479 485
152. R. Willemsen, M. Hoogeveen-Westerveld, S. Reis, J. Holstege, L.A. Severijnen, I.M. Nieuwenhuizen, M. Schrier, L. van Unen, F. Tassone, A.T. Hoogeveen, P.J. Hagerman, E.J. Mientjes, and B.A. Oostra The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome Hum. Mol. Genet. 12 2003 949 959 (Pubitemid 36553515)
153. H. Wils, G. Kleinberger, J. Janssens, S. Pereson, G. Joris, I. Cuijt, V. Smits, C.C. Groote, C. Van Broeckhoven, and S. Kumar-Singh TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration Proc. Natl. Acad. Sci. U. S. A. 2010
154. M.C. Wollerton, C. Gooding, E.J. Wagner, M.A. Garcia-Blanco, and C.W. Smith Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay Mol. Cell. 13 2004 91 100 (Pubitemid 38117118)
155. P.C. Wong, C.A. Pardo, D.R. Borchelt, M.K. Lee, N.G. Copeland, N.A. Jenkins, S.S. Sisodia, D.W. Cleveland, and D.L. Price An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria Neuron 14 1995 1105 1116
156. D. Wu, W. Yu, H. Kishikawa, R.D. Folkerth, A.J. Iafrate, Y. Shen, W. Xin, K. Sims, and G.F. Hu Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis Ann. Neurol. 62 2007 609 617
157. L.S. Wu, W.C. Cheng, S.C. Hou, Y.T. Yan, S.T. Jiang, and C.K. Shen TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis Genesis 48 2010 56 62
158. S. Xiao, T. Sanelli, S. Dib, D. Sheps, J. Findlater, J. Bilbao, J. Keith, L. Zinman, E. Rogaeva, and J. Robertson RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS Mol. Cell. Neurosci. 47 2011 167 180
159. Y.F. Xu, T.F. Gendron, Y.J. Zhang, W.L. Lin, S. D'Alton, H. Sheng, M.C. Casey, J. Tong, J. Knight, X. Yu, R. Rademakers, K. Boylan, M. Hutton, E. McGowan, D.W. Dickson, J. Lewis, and L. Petrucelli Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice J. Neurosci. 30 2010 10851 10859
160. G.W. Yeo, N.G. Coufal, T.Y. Liang, G.E. Peng, X.D. Fu, and F.H. Gage An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells Nat. Struct. Mol. Biol. 16 2009 130 137
161. D.G. Zisoulis, M.T. Lovci, M.L. Wilbert, K.R. Hutt, T.Y. Liang, A.E. Pasquinelli, and G.W. Yeo Comprehensive discovery of endogenous Argonaute binding sites in Caenorhabditis elegans Nat. Struct. Mol. Biol. 17 2010 173 179