, Volume 11, Issue 3, pp 275–290

RNA processing pathways in amyotrophic lateral sclerosis



RNA processing is a tightly regulated, highly complex pathway which includes RNA transcription, pre-mRNA splicing, editing, transportation, translation, and degradation of RNA. Over the past few years, several RNA processing genes have been shown to be mutated or genetically associated with amyotrophic lateral sclerosis (ALS), including the RNA-binding proteins TDP-43 and FUS/TLS. These findings suggest that RNA processing may represent a common pathogenic mechanism involved in development of ALS. In this review, we will discuss six ALS-related, RNA processing genes including their discovery, function, and commonalities.


Amyotrophic lateral sclerosis Mutation RNA processing Transcription Splicing 


  1. 1.
    Amador-Ortiz C, Lin WL, Ahmed Z, Personett D, Davies P, Duara R, Graff-Radford NR, Hutton ML, Dickson DW (2007) TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer’s disease. Ann Neurol 61:435–445PubMedGoogle Scholar
  2. 2.
    Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY (2001) Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 68:753–758PubMedGoogle Scholar
  3. 3.
    Andersson MK, Stahlberg A, Arvidsson Y, Olofsson A, Semb H, Stenman G, Nilsson O, Aman P (2008) 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 9:37PubMedGoogle Scholar
  4. 4.
    Anheim M, Fleury MC, Franques J, Moreira MC, Delaunoy JP, Stoppa-Lyonnet D, Koenig M, Tranchant C (2008) Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Arch Neurol 65:958–962PubMedGoogle Scholar
  5. 5.
    Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schols L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M’Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M (2009) Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132:2688–2698PubMedGoogle Scholar
  6. 6.
    Arai T, Hasegawa M, Nonoka T, Kametani F, Yamashita M, Hosokawa M, Niizato K, Tsuchiya K, Kobayashi Z, Ikeda K, Yoshida M, Onaya M, Fujishiro H, Akiyama H (2010). Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy. Neuropathology, 19 Jan 2010Google Scholar
  7. 7.
    Arning L, Schols L, Cin H, Souquet M, Epplen JT, Timmann D (2008) Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2). Neurogenetics 9:295–299PubMedGoogle Scholar
  8. 8.
    Ayala YM, Zago P, D’Ambrogio A, Xu YF, Petrucelli L, Buratti E, Baralle FE (2008) Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci 121:3778–3785PubMedGoogle Scholar
  9. 9.
    Banihashemi L, Wilson GM, Das N, Brewer G (2006) Upf1/Upf2 regulation of 3′ untranslated region splice variants of AUF1 links nonsense-mediated and A+U-rich element-mediated mRNA decay. Mol Cell Biol 26:8743–8754PubMedGoogle Scholar
  10. 10.
    Barmada SJ, Skibinski G, Korb E, Rao EJ, Wu JY, Finkbeiner S (2010) Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. J Neurosci 30:639–649PubMedGoogle Scholar
  11. 11.
    Barnes JW, Brown RH, Turtle EP, McEwen AS, Lorenz RD, Janssen M, Schaller EL, Brown ME, Buratti BJ, Sotin C, Griffith C, Clark R, Perry J, Fussner S, Barbara J, West R, Elachi C, Bouchez AH, Roe HG, Baines KH, Bellucci G, Bibring JP, Capaccioni F, Cerroni P, Combes M, Coradini A, Cruikshank DP, Drossart P, Formisano V, Jaumann R, Langevin Y, Matson DL, McCord TB, Nicholson PD, Sicardy B (2005) A 5-micron-bright spot on Titan: evidence for surface diversity. Science 310:92–95PubMedGoogle Scholar
  12. 12.
    Bateman A, Bennett HP (2009) The granulin gene family: from cancer to dementia. Bioessays 31:1245–1254PubMedGoogle Scholar
  13. 13.
    Battle DJ, Kasim M, Wang J, Dreyfuss G (2007) SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate. J Biol Chem 282:27953–27959PubMedGoogle Scholar
  14. 14.
    Battle DJ, Kasim M, Yong J, Lotti F, Lau CK, Mouaikel J, Zhang Z, Han K, Wan L, Dreyfuss G (2006) The SMN complex: an assembly machine for RNPs. Cold Spring Harb Symp Quant Biol 71:313–320PubMedGoogle Scholar
  15. 15.
    Beaulieu JM, Nguyen MD, Julien JP (1999) Late onset of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol 147:531–544PubMedGoogle Scholar
  16. 16.
    Belly A, Moreau-Gachelin F, Sadoul R, Goldberg Y (2005) 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 379:152–157PubMedGoogle Scholar
  17. 17.
    Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J, for the S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA (2009) Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology 73:1176–1179Google Scholar
  18. 18.
    Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B, Campion D, Meininger V, Brice A (2009) TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol 65:470–473PubMedGoogle Scholar
  19. 19.
    Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G (2009) Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis 33:379–385PubMedGoogle Scholar
  20. 20.
    Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Costanzo A, Colao R, Puccio G, Frangipane F, Curcio SA, Mirabelli M, Smirne N, Iapaolo D, Maletta RG, Bruni AC (2009) Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia. Neurobiol Aging 30:1825–1833PubMedGoogle Scholar
  21. 21.
    Bertolotti A, Lutz Y, Heard DJ, Chambon P, Tora L (1996) hTAF(II)68, a novel RNA/ssDNA-binding protein with homology to the pro-oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II. EMBO J 15:5022–5031PubMedGoogle Scholar
  22. 22.
    Betley JN, Heinrich B, Vernos I, Sardet C, Prodon F, Deshler JO (2004) Kinesin II mediates Vg1 mRNA transport in Xenopus oocytes. Curr Biol 14:219–224PubMedGoogle Scholar
  23. 23.
    Bose JK, Wang IF, Hung L, Tarn WY, Shen CK (2008) TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing. J Biol Chem 283:28852–28859PubMedGoogle Scholar
  24. 24.
    Brengues M, Teixeira D, Parker R (2005) Movement of eukaryotic mRNAs between polysomes and cytoplasmic processing bodies. Science 310:486–489PubMedGoogle Scholar
  25. 25.
    Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B (2008) Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. Hum Genet 123:141–153PubMedGoogle Scholar
  26. 26.
    Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE (2005) TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 280:37572–37584PubMedGoogle Scholar
  27. 27.
    Buratti E, Dork T, Zuccato E, Pagani F, Romano M, Baralle FE (2001) Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 20:1774–1784PubMedGoogle Scholar
  28. 28.
    Butcher LM, Meaburn E, Liu L, Fernandes C, Hill L, Al-Chalabi A, Plomin R, Schalkwyk L, Craig IW (2004) Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits. Behav Genet 34:549–555PubMedGoogle Scholar
  29. 29.
    Calvio C, Neubauer G, Mann M, Lamond AI (1995) Identification of hnRNP P2 as TLS/FUS using electrospray mass spectrometry. RNA 1:724–733PubMedGoogle Scholar
  30. 30.
    Campo L, Turley H, Han C, Pezzella F, Gatter KC, Harris AL, Fox SB (2005) Angiogenin is up-regulated in the nucleus and cytoplasm in human primary breast carcinoma and is associated with markers of hypoxia but not survival. J Pathol 205:585–591PubMedGoogle Scholar
  31. 31.
    Canete-Soler R, Wu J, Zhai J, Shamim M, Schlaepfer WW (2001) p190RhoGEF Binds to a destabilizing element in the 3′ untranslated region of light neurofilament subunit mRNA and alters the stability of the transcript. J Biol Chem 276:32046–32050PubMedGoogle Scholar
  32. 32.
    Carnegie GK, Sleeman JE, Morrice N, Hastie CJ, Peggie MW, Philp A, Lamond AI, Cohen PT (2003) Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs. J Cell Sci 116:1905–1913PubMedGoogle Scholar
  33. 33.
    Chang Y, Kong Q, Shan X, Tian G, Ilieva H, Cleveland DW, Rothstein JD, Borchelt DR, Wong PC, Lin CL (2008) Messenger RNA oxidation occurs early in disease pathogenesis and promotes motor neuron degeneration in ALS. PLoS ONE 3:e2849PubMedGoogle Scholar
  34. 34.
    Chari A, Golas MM, Klingenhager M, Neuenkirchen N, Sander B, Englbrecht C, Sickmann A, Stark H, Fischer U (2008) An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. Cell 135:497–509PubMedGoogle Scholar
  35. 35.
    Chen HH, Chang JG, Lu RM, Peng TY, Tarn WY (2008) The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol Cell Biol 28:6929–6938PubMedGoogle Scholar
  36. 36.
    Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74:1128–1135PubMedGoogle Scholar
  37. 37.
    Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL (2006) Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Neurobiol Dis 23:97–108PubMedGoogle Scholar
  38. 38.
    Chevalier-Larsen E, Holzbaur EL (2006) Axonal transport and neurodegenerative disease. Biochim Biophys Acta 1762:1094–1108PubMedGoogle Scholar
  39. 39.
    Chiarelli F, Pomilio M, Mohn A, Tumini S, Verrotti A, Mezzetti A, Cipollone F, Wasniewska M, Morgese G, Spagnoli A (2002) Serum angiogenin concentrations in young patients with diabetes mellitus. Eur J Clin Invest 32:110–114PubMedGoogle Scholar
  40. 40.
    Chio A, Mora G, Calvo A, Mazzini L, Bottacchi E, Mutani R (2009) Epidemiology of ALS in Italy: a 10-year prospective population-based study. Neurology 72:725–731PubMedGoogle Scholar
  41. 41.
    Chio A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, Sabatelli M, Monsurro MR, Battistini S, Mandrioli J, Salvi F, Spataro R, Schymick J, Traynor BJ, La Bella V (2009) Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 30:1272–1275PubMedGoogle Scholar
  42. 42.
    Chopra V, Dinh TV, Hannigan EV (1996) Angiogenin, interleukins, and growth-factor levels in serum of patients with ovarian cancer: correlation with angiogenesis. Cancer J Sci Am 2:279–285PubMedGoogle Scholar
  43. 43.
    Chopra V, Dinh TV, Hannigan EV (1998) Circulating serum levels of cytokines and angiogenic factors in patients with cervical cancer. Cancer Invest 16:152–159PubMedGoogle Scholar
  44. 44.
    Chopra V, Dinh TV, Hannigan EV (1997) Serum levels of interleukins, growth factors and angiogenin in patients with endometrial cancer. J Cancer Res Clin Oncol 123:167–172PubMedGoogle Scholar
  45. 45.
    Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurro MR, Muglia M, Quattrone A (2008) A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy. Neuromuscul Disord 18:68–70PubMedGoogle Scholar
  46. 46.
    Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH (1997) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6:1205–1214PubMedGoogle Scholar
  47. 47.
    Corcia P, Camu W, Halimi JM, Vourc’h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR (2006) SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 67:1147–1150PubMedGoogle Scholar
  48. 48.
    Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Muh JP, Camu W, Andres C (2002) Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol 51:243–246PubMedGoogle Scholar
  49. 49.
    Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D’Alfonso S (2009) High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat 30:688–694PubMedGoogle Scholar
  50. 50.
    Creppe C, Malinouskaya L, Volvert ML, Gillard M, Close P, Malaise O, Laguesse S, Cornez I, Rahmouni S, Ormenese S, Belachew S, Malgrange B, Chapelle JP, Siebenlist U, Moonen G, Chariot A, Nguyen L (2009) Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell 136:551–564PubMedGoogle Scholar
  51. 51.
    Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Sacca F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C (2006) Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology 66:1207–1210PubMedGoogle Scholar
  52. 52.
    Cronin S, Greenway MJ, Ennis S, Kieran D, Green A, Prehn JH, Hardiman O (2006) Elevated serum angiogenin levels in ALS. Neurology 67:1833–1836PubMedGoogle Scholar
  53. 53.
    Cruts M, Kumar-Singh S, Van Broeckhoven C (2006) Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Curr Alzheimer Res 3:485–491PubMedGoogle Scholar
  54. 54.
    D’Ambrogio A, Buratti E, Stuani C, Guarnaccia C, Romano M, Ayala YM, Baralle FE (2009) Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res 37:4116–4126PubMedGoogle Scholar
  55. 55.
    Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupre N, Camu W, Meininger V, Rouleau GA (2009) Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet 46:112–114PubMedGoogle Scholar
  56. 56.
    de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z (2009) Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet 18:2115–2126PubMedGoogle Scholar
  57. 57.
    Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, Santoro D, Ghione I, Prelle A, Orsetti V, Mancuso M, Soraru G, Briani C, Angelini C, Siciliano G, Bresolin N, Comi GP (2009) TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol 16:727–732PubMedGoogle Scholar
  58. 58.
    Delva L, Gallais I, Guillouf C, Denis N, Orvain C, Moreau-Gachelin F (2004) Multiple functional domains of the oncoproteins Spi-1/PU.1 and TLS are involved in their opposite splicing effects in erythroleukemic cells. Oncogene 23:4389–4399PubMedGoogle Scholar
  59. 59.
    Drepper C, Herrmann T, Wessig C, Beck M, Sendtner M (2010) C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany. Neurobiol Aging, 15 Dec 2009Google Scholar
  60. 60.
    Dupuis L, de Tapia M, Rene F, Lutz-Bucher B, Gordon JW, Mercken L, Pradier L, Loeffler JP (2000) Differential screening of mutated SOD1 transgenic mice reveals early up-regulation of a fast axonal transport component in spinal cord motor neurons. Neurobiol Dis 7:274–285PubMedGoogle Scholar
  61. 61.
    Falcioni T, Papa S, Campana R, Mannello F, Casaroli A, Burattini S, Baffone W (2005) Flow cytometric evaluation of Vibrio parahaemolyticus adhesion inhibition to human epithelial cells. Cytometry B Clin Cytom 66:25–35PubMedGoogle Scholar
  62. 62.
    Fang F, Valdimarsdottir U, Bellocco R, Ronnevi LO, Sparen P, Fall K, Ye W (2009) Amyotrophic lateral sclerosis in Sweden, 1991–2005. Arch Neurol 66:515–519PubMedGoogle Scholar
  63. 63.
    Fernandez-Santiago R, Hoenig S, Lichtner P, Sperfeld AD, Sharma M, Berg D, Weichenrieder O, Illig T, Eger K, Meyer T, Anneser J, Munch C, Zierz S, Gasser T, Ludolph A (2010) Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis. J NeurolGoogle Scholar
  64. 64.
    Fogel BL, Perlman S (2006) Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology 67:2083–2084PubMedGoogle Scholar
  65. 65.
    Fu H, Feng J, Liu Q, Sun F, Tie Y, Zhu J, Xing R, Sun Z, Zheng X (2009) Stress induces tRNA cleavage by angiogenin in mammalian cells. FEBS Lett 583:437–442PubMedGoogle Scholar
  66. 66.
    Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L (2007) Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE 2:e921PubMedGoogle Scholar
  67. 67.
    Galimberti D, Fenoglio C, Cortini F, Serpente M, Venturelli E, Villa C, Clerici F, Marcone A, Benussi L, Ghidoni R, Gallone S, Scalabrini D, Restelli I, Boneschi FM, Cappa S, Binetti G, Mariani C, Rainero I, Giordana MT, Bresolin N, Scarpini (2009) GRN variability contributes to sporadic frontotemporal lobar degeneration. J Alzheimers Dis 19:171–177Google Scholar
  68. 68.
    Ge WW, Wen W, Strong W, Leystra-Lantz C, Strong MJ (2005) Mutant copper-zinc superoxide dismutase binds to and destabilizes human low molecular weight neurofilament mRNA. J Biol Chem 280:118–124PubMedGoogle Scholar
  69. 69.
    Gellera C, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V (2008) Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. Neurogenetics 9:33–40PubMedGoogle Scholar
  70. 70.
    Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B (1995) Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213:342–348PubMedGoogle Scholar
  71. 71.
    Geser F, Winton MJ, Kwong LK, Xu Y, Xie SX, Igaz LM, Garruto RM, Perl DP, Galasko D, Lee VM, Trojanowski JQ (2008) Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. Acta Neuropathol 115:133–145PubMedGoogle Scholar
  72. 72.
    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 (2008) TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63:535–538PubMedGoogle Scholar
  73. 73.
    Goransson M, Andersson MK, Forni C, Stahlberg A, Andersson C, Olofsson A, Mantovani R, Aman P (2009) The myxoid liposarcoma FUS-DDIT3 fusion oncoprotein deregulates NF-kappaB target genes by interaction with NFKBIZ. Oncogene 28:270–278PubMedGoogle Scholar
  74. 74.
    Gottardi CJ, den Elzen NR, Yap AS (2005) When domestiques rebel: kinesins, cadherins and neuronal proliferation. Nat Cell Biol 7:445–447PubMedGoogle Scholar
  75. 75.
    Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O (2006) ANG mutations segregate with familial and ‘sporadic’ amyotrophic lateral sclerosis. Nat Genet 38:411–413PubMedGoogle Scholar
  76. 76.
    Greenwood C, Selth LA, Dirac-Svejstrup AB, Svejstrup JQ (2009) An iron-sulfur cluster domain in Elp3 important for the structural integrity of elongator. J Biol Chem 284:141–149PubMedGoogle Scholar
  77. 77.
    Groen EJ, van Es MA, van Vught PW, Spliet WG, van Engelen-Lee J, de Visser M, Wokke JH, Schelhaas HJ, Ophoff RA, Fumoto K, Pasterkamp RJ, Dooijes D, Cuppen E, Veldink JH, van den Berg LH (2010) FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch Neurol 67:224–230PubMedGoogle Scholar
  78. 78.
    Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29:75–77PubMedGoogle Scholar
  79. 79.
    Gros-Louis F, Lariviere R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP (2004) A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J Biol Chem 279:45951–45956PubMedGoogle Scholar
  80. 80.
    Gubitz AK, Feng W, Dreyfuss G (2004) The SMN complex. Exp Cell Res 296:51–56PubMedGoogle Scholar
  81. 81.
    Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plottner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U (2009) IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol Genet 18:1288–1300PubMedGoogle Scholar
  82. 82.
    Han Q, Lu J, Duan J, Su D, Hou X, Li F, Wang X, Huang B (2008) Gcn5- and Elp3-induced histone H3 acetylation regulates hsp70 gene transcription in yeast. Biochem J 409:779–788PubMedGoogle Scholar
  83. 83.
    Hasegawa M, Arai T, Akiyama H, Nonaka T, Mori H, Hashimoto T, Yamazaki M, Oyanagi K (2007) TDP-43 is deposited in the Guam parkinsonism-dementia complex brains. Brain 130:1386–1394PubMedGoogle Scholar
  84. 84.
    Hebert MD, Szymczyk PW, Shpargel KB, Matera AG (2001) Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein. Genes Dev 15:2720–2729PubMedGoogle Scholar
  85. 85.
    Hickson ID (2003) RecQ helicases: caretakers of the genome. Nat Rev Cancer 3:169–178PubMedGoogle Scholar
  86. 86.
    Higashi S, Iseki E, Yamamoto R, Minegishi M, Hino H, Fujisawa K, Togo T, Katsuse O, Uchikado H, Furukawa Y, Kosaka K, Arai H (2007) Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer’s disease and dementia with Lewy bodies. Brain Res 1184:284–294PubMedGoogle Scholar
  87. 87.
    Hirokawa N (2000) Stirring up development with the heterotrimeric kinesin KIF3. Traffic 1:29–34PubMedGoogle Scholar
  88. 88.
    Huang B, Johansson MJ, Bystrom AS (2005) An early step in wobble uridine tRNA modification requires the Elongator complex. RNA 11:424–436PubMedGoogle Scholar
  89. 89.
    Huang L, Huang Y, Guo H (2009) Dominant expression of angiogenin in NeuN positive cells in the focal ischemic rat brain. J Neurol Sci 285:220–223PubMedGoogle Scholar
  90. 90.
    Iko Y, Kodama TS, Kasai N, Oyama T, Morita EH, Muto T, Okumura M, Fujii R, Takumi T, Tate S, Morikawa K (2004) Domain architectures and characterization of an RNA-binding protein, TLS. J Biol Chem 279:44834–44840PubMedGoogle Scholar
  91. 91.
    Irwin D, Lippa CF, Rosso A (2009) Progranulin (PGRN) expression in ALS: an immunohistochemical study. J Neurol Sci 276:9–13PubMedGoogle Scholar
  92. 92.
    Jiang YM, Yamamoto M, Tanaka F, Ishigaki S, Katsuno M, Adachi H, Niwa J, Doyu M, Yoshida M, Hashizume Y, Sobue G (2007) Gene expressions specifically detected in motor neurons (dynactin 1, early growth response 3, acetyl-CoA transporter, death receptor 5, and cyclin C) differentially correlate to pathologic markers in sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 66:617–627PubMedGoogle Scholar
  93. 93.
    Johnson BS, Snead D, Lee JJ, McCaffery JM, Shorter J, Gitler AD (2009) TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J Biol Chem 284:20329–20339PubMedGoogle Scholar
  94. 94.
    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 (2010) Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet 19:671–683PubMedGoogle Scholar
  95. 95.
    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 (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572–574PubMedGoogle Scholar
  96. 96.
    Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, Ito H, Kusaka H, Kawano Y, Miki T, Nodera H, Izumi Y, Kaji R, Kawakami H (2009) Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. J Neurol Sci 284:69–71PubMedGoogle Scholar
  97. 97.
    Kanai Y, Dohmae N, Hirokawa N (2004) Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 43:513–525PubMedGoogle Scholar
  98. 98.
    Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR (2008) Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17:2552–2569PubMedGoogle Scholar
  99. 99.
    Kashima T, Rao N, David CJ, Manley JL (2007) hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum Mol Genet 16:3149–3159PubMedGoogle Scholar
  100. 100.
    Kiebler MA, Bassell GJ (2006) Neuronal RNA granules: movers and makers. Neuron 51:685–690PubMedGoogle Scholar
  101. 101.
    Kieran D, Sebastia J, Greenway MJ, King MA, Connaughton D, Concannon CG, Fenner B, Hardiman O, Prehn JH (2008) Control of motoneuron survival by angiogenin. J Neurosci 28:14056–14061PubMedGoogle Scholar
  102. 102.
    Kim SH, Choi YM, Chae HD, Kim CH, Kang BM (2008) Decreased expression of angiogenin in the eutopic endometrium from women with advanced stage endometriosis. J Korean Med Sci 23:802–807PubMedGoogle Scholar
  103. 103.
    King A, Sweeney F, Bodi I, Troakes C, Maekawa S, Al-Sarraj S (2010). Abnormal TDP-43 expression is identified in the neocortex in cases of dementia pugilistica, but is mainly confined to the limbic system when identified in high and moderate stages of Alzheimer’s disease. Neuropathology, 19 Jan 2010Google Scholar
  104. 104.
    Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, Hibberd R, Hollinger HC, Wharton SB, Morrison KE, Ince PG, McDermott CJ, Shaw PJ (2009) Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics, 17 Sep 2009Google Scholar
  105. 105.
    Kishimoto K, Liu S, Tsuji T, Olson KA, Hu GF (2005) Endogenous angiogenin in endothelial cells is a general requirement for cell proliferation and angiogenesis. Oncogene 24:445–456PubMedGoogle Scholar
  106. 106.
    Kong Q, Shan X, Chang Y, Tashiro H, Lin CL (2008) RNA oxidation: a contributing factor or an epiphenomenon in the process of neurodegeneration. Free Radic Res 42:773–777PubMedGoogle Scholar
  107. 107.
    Krecic AM, Swanson MS (1999) hnRNP complexes: composition, structure, and function. Curr Opin Cell Biol 11:363–371PubMedGoogle Scholar
  108. 108.
    Kristan SS, Malovrh MM, Silar M, Kern I, Flezar M, Kosnik M, Suskovic S, Korosec P (2009) Airway angiogenesis in patients with rhinitis and controlled asthma. Clin Exp Allergy 39:354–360PubMedGoogle Scholar
  109. 109.
    Kristjuhan A, Svejstrup JQ (2004) Evidence for distinct mechanisms facilitating transcript elongation through chromatin in vivo. EMBO J 23:4243–4252PubMedGoogle Scholar
  110. 110.
    Kuhnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, Trojanowski JQ, Kretzschmar HA, Ludolph AC, Neumann M (2008) Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch Neurol 65:1185–1189PubMedGoogle Scholar
  111. 111.
    Kulka M, Fukuishi N, Metcalfe DD (2009) Human mast cells synthesize and release angiogenin, a member of the ribonuclease A (RNase A) superfamily. J Leukoc Biol 86:1217–1226PubMedGoogle Scholar
  112. 112.
    Kuo PH, Doudeva LG, Wang YT, Shen CK, Yuan HS (2009) Structural insights into TDP-43 in nucleic-acid binding and domain interactions. Nucleic Acids Res 37:1799–1808PubMedGoogle Scholar
  113. 113.
    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 (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205–1208PubMedGoogle Scholar
  114. 114.
    Lagier-Tourenne C, Cleveland DW (2009) Rethinking ALS: the FUS about TDP-43. Cell 136:1001–1004PubMedGoogle Scholar
  115. 115.
    Laird FM, Farah MH, Ackerley S, Hoke A, Maragakis N, Rothstein JD, Griffin J, Price DL, Martin LJ, Wong PC (2008) Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking. J Neurosci 28:1997–2005PubMedGoogle Scholar
  116. 116.
    LaMonte BH, Wallace KE, Holloway BA, Shelly SS, Ascano J, Tokito M, Van Winkle T, Howland DS, Holzbaur EL (2002) Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34:715–727PubMedGoogle Scholar
  117. 117.
    Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PWJ, McKenna-Yasek DM, Blauw HM, Cho T-J, Polak M, Shi L, Wills A-M, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CGJ, Hosler BA, Barnes-Nessa A, Couture N, Wokke JHJ, Kwiatkowski TJ, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH (2009) Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106:9004–9009PubMedGoogle Scholar
  118. 118.
    Law WJ, Cann KL, Hicks GG (2006) TLS, EWS and TAF15: a model for transcriptional integration of gene expression. Brief Funct Genomic Proteomic 5:8–14PubMedGoogle Scholar
  119. 119.
    Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A, French research network on, F. F.-M (2008) Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 131:732–746PubMedGoogle Scholar
  120. 120.
    Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165PubMedGoogle Scholar
  121. 121.
    Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165PubMedGoogle Scholar
  122. 122.
    Lefebvre S, Burlet P, Viollet L, Bertrandy S, Huber C, Belser C, Munnich A (2002) A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. Hum Mol Genet 11:1017–1027PubMedGoogle Scholar
  123. 123.
    Lerga A, Hallier M, Delva L, Orvain C, Gallais I, Marie J, Moreau-Gachelin F (2001) Identification of an RNA binding specificity for the potential splicing factor TLS. J Biol Chem 276:6807–6816PubMedGoogle Scholar
  124. 124.
    Leung CL, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP (2004) A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol 14:290–296PubMedCrossRefGoogle Scholar
  125. 125.
    Li X, Lu L, Bush DJ, Zhang X, Zheng L, Suswam EA, King PH (2009) Mutant copper-zinc superoxide dismutase associated with amyotrophic lateral sclerosis binds to adenine/uridine-rich stability elements in the vascular endothelial growth factor 3′-untranslated region. J Neurochem 108:1032–1044PubMedGoogle Scholar
  126. 126.
    Lin H, Zhai J, Schlaepfer WW (2005) RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration. Hum Mol Genet 14:3643–3659PubMedGoogle Scholar
  127. 127.
    Lippa CF, Rosso AL, Stutzbach LD, Neumann M, Lee VM, Trojanowski JQ (2009) Transactive response DNA-binding protein 43 burden in familial Alzheimer disease and Down syndrome. Arch Neurol 66:1483–1488PubMedGoogle Scholar
  128. 128.
    Liu Q, Dreyfuss G (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J 15:3555–3565PubMedGoogle Scholar
  129. 129.
    Lorson CL, Hahnen E, Androphy EJ, Wirth B (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 96:6307–6311PubMedGoogle Scholar
  130. 130.
    Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19:63–66PubMedGoogle Scholar
  131. 131.
    Lu L, Zheng L, Viera L, Suswam E, Li Y, Li X, Estevez AG, King PH (2007) Mutant Cu/Zn-superoxide dismutase associated with amyotrophic lateral sclerosis destabilizes vascular endothelial growth factor mRNA and downregulates its expression. J Neurosci 27:7929–7938PubMedGoogle Scholar
  132. 132.
    Malamitsi-Puchner A, Sarandakou A, Dafogianni C, Tziotis J, Bartsocas CS (1998) Serum angiogenin levels in children and adolescents with insulin-dependent diabetes mellitus. Pediatr Res 43:798–800PubMedGoogle Scholar
  133. 133.
    Martins de Araujo M, Bonnal S, Hastings ML, Krainer AR, Valcarcel J (2009) Differential 3′ splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA 15:515–523PubMedGoogle Scholar
  134. 134.
    McGovern VL, Gavrilina TO, Beattie CE, Burghes AH (2008) Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet 17:2900–2909PubMedGoogle Scholar
  135. 135.
    Meissner M, Lopato S, Gotzmann J, Sauermann G, Barta A (2003) Proto-oncoprotein TLS/FUS is associated to the nuclear matrix and complexed with splicing factors PTB, SRm160, and SR proteins. Exp Cell Res 283:184–195PubMedGoogle Scholar
  136. 136.
    Mendell JT, ap Rhys CM, Dietz HC (2002) Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science 298:419–422PubMedGoogle Scholar
  137. 137.
    Messitt TJ, Gagnon JA, Kreiling JA, Pratt CA, Yoon YJ, Mowry KL (2008) Multiple kinesin motors coordinate cytoplasmic RNA transport on a subpopulation of microtubules in Xenopus oocytes. Dev Cell 15:426–436PubMedGoogle Scholar
  138. 138.
    Millecamps S, Robertson J, Lariviere R, Mallet J, Julien JP (2006) Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin. J Neurochem 98:926–938PubMedGoogle Scholar
  139. 139.
    Moenner M, Gusse M, Hatzi E, Badet J (1994) The widespread expression of angiogenin in different human cells suggests a biological function not only related to angiogenesis. Eur J Biochem 226:483–490PubMedGoogle Scholar
  140. 140.
    Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8:1177–1183PubMedGoogle Scholar
  141. 141.
    Moreau C, Gosset P, Brunaud-Danel V, Lassalle P, Degonne B, Destee A, Defebvre L, Devos D (2009) CSF profiles of angiogenic and inflammatory factors depend on the respiratory status of ALS patients. Amyotroph Lateral Scler 10:175–181PubMedGoogle Scholar
  142. 142.
    Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M’Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M (2004) Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 36:225–227PubMedGoogle Scholar
  143. 143.
    Moroianu J, Riordan JF (1994) Identification of the nucleolar targeting signal of human angiogenin. Biochem Biophys Res Commun 203:1765–1772PubMedGoogle Scholar
  144. 144.
    Moroianu J, Riordan JF (1994) Nuclear translocation of angiogenin in proliferating endothelial cells is essential to its angiogenic activity. Proc Natl Acad Sci U S A 91:1677–1681PubMedGoogle Scholar
  145. 145.
    Motil J, Dubey M, Chan WK, Shea TB (2007) Inhibition of dynein but not kinesin induces aberrant focal accumulation of neurofilaments within axonal neurites. Brain Res 1164:125–131PubMedGoogle Scholar
  146. 146.
    Munch C, Rosenbohm A, Sperfeld AD, Uttner I, Reske S, Krause BJ, Sedlmeier R, Meyer T, Hanemann CO, Stumm G, Ludolph AC (2005) Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 58:777–780PubMedGoogle Scholar
  147. 147.
    Munch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld AD, Kurt A, Prudlo J, Peraus G, Hanemann CO, Stumm G, Ludolph AC (2004) Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63:724–726PubMedGoogle Scholar
  148. 148.
    Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH (2008) Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17:949–962PubMedGoogle Scholar
  149. 149.
    Nakashima-Yasuda H, Uryu K, Robinson J, Xie SX, Hurtig H, Duda JE, Arnold SE, Siderowf A, Grossman M, Leverenz JB, Woltjer R, Lopez OL, Hamilton R, Tsuang DW, Galasko D, Masliah E, Kaye J, Clark CM, Montine TJ, Lee VM, Trojanowski JQ (2007) Co-morbidity of TDP-43 proteinopathy in Lewy body related diseases. Acta Neuropathol 114:221–229PubMedGoogle Scholar
  150. 150.
    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 (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314:130–133PubMedGoogle Scholar
  151. 151.
    Nonaka T, Kametani F, Arai T, Akiyama H, Hasegawa M (2009) Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43. Hum Mol Genet 18:3353–3364PubMedGoogle Scholar
  152. 152.
    Ogg SC, Lamond AI (2002) Cajal bodies and coilin—moving towards function. J Cell Biol 159:17–21PubMedGoogle Scholar
  153. 153.
    Origone P, Caponnetto C, Bandettini di Poggio M, Ghiglione E, Bellone E, Ferrandes G, Mancardi GL, Mandich P (2009) Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. Amyotroph Lateral Scler, Aug 2009 27:1–5Google Scholar
  154. 154.
    Ou SH, Wu F, Harrich D, Garcia-Martinez LF, Gaynor RB (1995) Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol 69:3584–3596PubMedGoogle Scholar
  155. 155.
    Pantelidou M, Zographos SE, Lederer CW, Kyriakides T, Pfaffl MW, Santama N (2007) Differential expression of molecular motors in the motor cortex of sporadic ALS. Neurobiol Dis 26:577–589PubMedGoogle Scholar
  156. 156.
    Patel JV, Sosin M, Gunarathne A, Hussain I, Davis RC, Hughes EA, Lip GY (2008) Elevated angiogenin levels in chronic heart failure. Ann Med 40:474–479PubMedGoogle Scholar
  157. 157.
    Paubel A, Violette J, Amy M, Praline J, Meininger V, Camu W, Corcia P, Andres CR, Vourc’h P (2008) Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. Arch Neurol 65:1333–1336PubMedGoogle Scholar
  158. 158.
    Pellizzoni L, Baccon J, Charroux B, Dreyfuss G (2001) The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1. Curr Biol 11:1079–1088PubMedGoogle Scholar
  159. 159.
    Perez-Losada J, Sanchez-Martin M, Rodriguez-Garcia MA, Perez-Mancera PA, Pintado B, Flores T, Battaner E, Sanchez-Garcia I (2000) Liposarcoma initiated by FUS/TLS-CHOP: the FUS/TLS domain plays a critical role in the pathogenesis of liposarcoma. Oncogene 19:6015–6022PubMedGoogle Scholar
  160. 160.
    Petri S, Grimmler M, Over S, Fischer U, Gruss OJ (2007) Dephosphorylation of survival motor neurons (SMN) by PPM1G/PP2Cgamma governs Cajal body localization and stability of the SMN complex. J Cell Biol 179:451–465PubMedGoogle Scholar
  161. 161.
    Pickering-Brown SM, Rollinson S, Du Plessis D, Morrison KE, Varma A, Richardson AM, Neary D, Snowden JS, Mann DM (2008) Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain 131:721–731PubMedGoogle Scholar
  162. 162.
    Piper M, Holt C (2004) RNA translation in axons. Annu Rev Cell Dev Biol 20:505–523PubMedGoogle Scholar
  163. 163.
    Puls I, Jonnakuty C, LaMonte B, Holzbaur E, Tokito M, Mann E, Floeter M, Bidus K, Drayna D, Oh S, Brown R, Ludlow C, Fischbeck K (2003) Mutant dynactin in motor neuron disease. Nat Genet 33:455–456PubMedGoogle Scholar
  164. 164.
    Rabbitts TH, Forster A, Larson R, Nathan P (1993) Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. Nat Genet 4:175–180PubMedGoogle Scholar
  165. 165.
    Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW (2008) Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet 17:3631–3642PubMedGoogle Scholar
  166. 166.
    Rico B, Beggs HE, Schahin-Reed D, Kimes N, Schmidt A, Reichardt LF (2004) Control of axonal branching and synapse formation by focal adhesion kinase. Nat Neurosci 7:1059–1069PubMedGoogle Scholar
  167. 167.
    Robertson J, Beaulieu JM, Doroudchi MM, Durham HD, Julien JP, Mushynski WE (2001) Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-alpha. J Cell Biol 155:217–226PubMedGoogle Scholar
  168. 168.
    Robertson J, Doroudchi MM, Nguyen MD, Durham HD, Strong MJ, Shaw G, Julien JP, Mushynski WE (2003) A neurotoxic peripherin splice variant in a mouse model of ALS. J Cell Biol 160:939–949PubMedGoogle Scholar
  169. 169.
    Rollinson S, Rohrer JD, van der Zee J, Sleegers K, Mead S, Engelborghs S, Collinge J, De Deyn PP, Mann DM, Van Broeckhoven C, Pickering-Brown SM (2009). No association of PGRN 3′UTR rs5848 in frontotemporal lobar degeneration. Neurobiol AgingGoogle Scholar
  170. 170.
    Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng HX et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62PubMedGoogle Scholar
  171. 171.
    Rossoll W, Kroning AK, Ohndorf UM, Steegborn C, Jablonka S, Sendtner M (2002) Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Hum Mol Genet 11:93–105PubMedGoogle Scholar
  172. 172.
    Ruddy DM, Parton MJ, Al-Chalabi A, Lewis CM, Vance C, Smith BN, Leigh PN, Powell JF, Siddique T, Meyjes EP, Baas F, de Jong V, Shaw CE (2003) Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet 73:390–396PubMedGoogle Scholar
  173. 173.
    Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R (2008) Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 4:e1000193PubMedGoogle Scholar
  174. 174.
    Ryan CL, Baranowski DC, Chitramuthu BP, Malik S, Li Z, Cao M, Minotti S, Durham HD, Kay DG, Shaw CA, Bennett HP, Bateman A (2009) Progranulin is expressed within motor neurons and promotes neuronal cell survival. BMC Neurosci 10:130PubMedGoogle Scholar
  175. 175.
    Sanelli T, Xiao S, Horne P, Bilbao J, Zinman L, Robertson J (2007) Evidence that TDP-43 is not the major ubiquitinated target within the pathological inclusions of amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 66:1147–1153PubMedGoogle Scholar
  176. 176.
    Saxena SK, Rybak SM, Davey RT Jr, Youle RJ, Ackerman EJ (1992) Angiogenin is a cytotoxic, tRNA-specific ribonuclease in the RNase A superfamily. J Biol Chem 267:21982–21986PubMedGoogle Scholar
  177. 177.
    Schols L, Arning L, Schule R, Epplen JT, Timmann D (2008) “Pseudodominant inheritance” of ataxia with ocular apraxia type 2 (AOA2). J Neurol 255:495–501PubMedGoogle Scholar
  178. 178.
    Schwab C, Arai T, Hasegawa M, Akiyama H, Yu S, McGeer PL (2009) TDP-43 pathology in familial British dementia. Acta Neuropathol 118:303–311PubMedGoogle Scholar
  179. 179.
    Schwab C, Arai T, Hasegawa M, Yu S, McGeer PL (2008) Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington disease. J Neuropathol Exp Neurol 67:1159–1165PubMedGoogle Scholar
  180. 180.
    Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chio A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, Hutton M, Gass J, Cannon A, Rademakers R, Singleton AB, Hardiman O, Rothstein J, Hardy J, Traynor BJ (2007) Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiatry 78:754–756PubMedGoogle Scholar
  181. 181.
    Sebastia J, Kieran D, Breen B, King MA, Netteland DF, Joyce D, Fitzpatrick SF, Taylor CT, Prehn JH (2009) Angiogenin protects motoneurons against hypoxic injury. Cell Death Differ 16(9):1238–1347PubMedGoogle Scholar
  182. 182.
    Selamat W, Jamari I, Wang Y, Takumi T, Wong F, Fujii R (2009) TLS interaction with NMDA R1 splice variant in retinal ganglion cell line RGC-5. Neurosci Lett 450:163–166PubMedGoogle Scholar
  183. 183.
    Shapiro R (1998) Structural features that determine the enzymatic potency and specificity of human angiogenin: threonine-80 and residues 58–70 and 116–123. Biochemistry 37:6847–6856PubMedGoogle Scholar
  184. 184.
    Shimoyama S, Gansauge F, Gansauge S, Negri G, Oohara T, Beger HG (1996) Increased angiogenin expression in pancreatic cancer is related to cancer aggressiveness. Cancer Res 56:2703–2706PubMedGoogle Scholar
  185. 185.
    Shimoyama S, Kaminishi M (2000) Increased angiogenin expression in gastric cancer correlated with cancer progression. J Cancer Res Clin Oncol 126:468–474PubMedGoogle Scholar
  186. 186.
    Shimoyama S, Yamasaki K, Kawahara M, Kaminishi M (1999) Increased serum angiogenin concentration in colorectal cancer is correlated with cancer progression. Clin Cancer Res 5:1125–1130PubMedGoogle Scholar
  187. 187.
    Siebert J, Reiwer-Gostomska M, Babinska Z, Mysliwska J, Mysliwski A, Skopinska-Rozewska E, Sommer E, Skopinski P (2007) Low serum angiogenin concentrations in patients with type 2 diabetes. Diabetes Care 30:3086–3087PubMedGoogle Scholar
  188. 188.
    Simcock DE, Kanabar V, Clarke GW, O’Connor BJ, Lee TH, Hirst SJ (2007) Proangiogenic activity in bronchoalveolar lavage fluid from patients with asthma. Am J Respir Crit Care Med 176:146–153PubMedGoogle Scholar
  189. 189.
    Simon-Sanchez J, Seelaar H, Bochdanovits Z, Deeg DJ, van Swieten JC, Heutink P (2009) Variation at GRN 3′-UTR rs5848 is not associated with a risk of frontotemporal lobar degeneration in Dutch population. PLoS ONE 4:e7494PubMedGoogle Scholar
  190. 190.
    Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, Neale BM, Turner MR, Veldink JH, Ophoff RA, Tripathi VB, Beleza A, Shah MN, Proitsi P, Van Hoecke A, Carmeliet P, Horvitz HR, Leigh PN, Shaw CE, van den Berg LH, Sham PC, Powell JF, Verstreken P, Brown RH Jr, Robberecht W, Al-Chalabi A (2009) Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 18:472–481PubMedGoogle Scholar
  191. 191.
    Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C (2008) Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology 71:253–259PubMedGoogle Scholar
  192. 192.
    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 (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668–1672PubMedGoogle Scholar
  193. 193.
    Steff AM, Gagne D, Page M, Rioux A, Hugo P, Gosselin D (2004) Serum concentrations of insulin-like growth factor-1, soluble tumor necrosis factor receptor-1 and angiogenin in endometriosis patients. Am J Reprod Immunol 51:166–173PubMedGoogle Scholar
  194. 194.
    Steinmetz EJ, Warren CL, Kuehner JN, Panbehi B, Ansari AZ, Brow DA (2006) Genome-wide distribution of yeast RNA polymerase II and its control by Sen1 helicase. Mol Cell 24:735–746PubMedGoogle Scholar
  195. 195.
    Strom AL, Shi P, Zhang F, Gal J, Kilty R, Hayward LJ, Zhu H (2008) Interaction of amyotrophic lateral sclerosis (ALS)-related mutant copper-zinc superoxide dismutase with the dynein-dynactin complex contributes to inclusion formation. J Biol Chem 283:22795–22805PubMedGoogle Scholar
  196. 196.
    Strong MJ, Leystra-Lantz C, Ge WW (2004) Intermediate filament steady-state mRNA levels in amyotrophic lateral sclerosis. Biochem Biophys Res Commun 316:317–322PubMedGoogle Scholar
  197. 197.
    Strong MJ, Volkening K, Hammond R, Yang W, Strong W, Leystra-Lantz C, Shoesmith C (2007) TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol Cell Neurosci 35:320–327PubMedGoogle Scholar
  198. 198.
    Subramanian V, Crabtree B, Acharya KR (2008) Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons. Hum Mol Genet 17:130–149PubMedGoogle Scholar
  199. 199.
    Subramanian V, Feng Y (2007) A new role for angiogenin in neurite growth and pathfinding: implications for amyotrophic lateral sclerosis. Hum Mol Genet 16:1445–1453PubMedGoogle Scholar
  200. 200.
    Suraweera A, Becherel OJ, Chen P, Rundle N, Woods R, Nakamura J, Gatei M, Criscuolo C, Filla A, Chessa L, Fusser M, Epe B, Gueven N, Lavin MF (2007) Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. J Cell Biol 177:969–979PubMedGoogle Scholar
  201. 201.
    Suzumori N, Zhao XX, Suzumori K (2004) Elevated angiogenin levels in the peritoneal fluid of women with endometriosis correlate with the extent of the disorder. Fertil Steril 82:93–96PubMedGoogle Scholar
  202. 202.
    Tadesse H, Deschenes-Furry J, Boisvenue S, Cote J (2008) KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy. Hum Mol Genet 17:506–524PubMedGoogle Scholar
  203. 203.
    Takeda S, Yamazaki H, Seog DH, Kanai Y, Terada S, Hirokawa N (2000) Kinesin superfamily protein 3 (KIF3) motor transports fodrin-associating vesicles important for neurite building. J Cell Biol 148:1255–1265PubMedGoogle Scholar
  204. 204.
    Tanner NK, Linder P (2001) DExD/H box RNA helicases: from generic motors to specific dissociation functions. Mol Cell 8:251–262PubMedGoogle Scholar
  205. 205.
    Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira JI (2010) Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation. Acta Neuropathol 119:355–364PubMedGoogle Scholar
  206. 206.
    Tateno M, Kato S, Sakurai T, Nukina N, Takahashi R, Araki T (2009) Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3. Hum Mol Genet 18:942–955PubMedGoogle Scholar
  207. 207.
    Tazir M, Ali-Pacha L, M’Zahem A, Delaunoy JP, Fritsch M, Nouioua S, Benhassine T, Assami S, Grid D, Vallat JM, Hamri A, Koenig M (2009) Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci 278:77–81PubMedGoogle Scholar
  208. 208.
    Teuling E, van Dis V, Wulf PS, Haasdijk ED, Akhmanova A, Hoogenraad CC, Jaarsma D (2008) A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice. Hum Mol Genet 17:2849–2862PubMedGoogle Scholar
  209. 209.
    Ticozzi N, Leclerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH Jr, Landers JE (2010) Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol Aging, 21 Dec 2009Google Scholar
  210. 210.
    Ticozzi N, Silani V, Leclerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE (2009) Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. Neurology, 13 Oct 2009;73(15):1180–1185Google Scholar
  211. 211.
    Tsuji T, Sun Y, Kishimoto K, Olson KA, Liu S, Hirukawa S, Hu GF (2005) Angiogenin is translocated to the nucleus of HeLa cells and is involved in ribosomal RNA transcription and cell proliferation. Cancer Res 65:1352–1360PubMedGoogle Scholar
  212. 212.
    Turner BJ, Parkinson NJ, Davies KE, Talbot K (2009) Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 34:511–517PubMedGoogle Scholar
  213. 213.
    Turner MR, Kiernan MC, Leigh PN, Talbot K (2009) Biomarkers in amyotrophic lateral sclerosis. Lancet Neurol 8:94–109PubMedGoogle Scholar
  214. 214.
    Uranishi H, Tetsuka T, Yamashita M, Asamitsu K, Shimizu M, Itoh M, Okamoto T (2001) Involvement of the pro-oncoprotein TLS (translocated in liposarcoma) in nuclear factor-kappa B p65-mediated transcription as a coactivator. J Biol Chem 276:13395–13401PubMedGoogle Scholar
  215. 215.
    Ursic D, Chinchilla K, Finkel JS, Culbertson MR (2004) Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing. Nucleic Acids Res 32:2441–2452PubMedGoogle Scholar
  216. 216.
    Valdmanis PN, Rouleau GA (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology 70:144–152PubMedGoogle Scholar
  217. 217.
    Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE (2008) TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 7:409–416PubMedGoogle Scholar
  218. 218.
    van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, Strengman E, Hennekam EA, Lindhout D, Ophoff RA, van den Berg LH (2009) A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation. Neurology 72:287–288PubMedGoogle Scholar
  219. 219.
    van Swieten JC, Heutink P (2008) Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 7:965–974PubMedGoogle Scholar
  220. 220.
    Vance C, Rogelj B, Hortobagyi 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 (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208–1211PubMedGoogle Scholar
  221. 221.
    Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH (2005) SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 65:820–825PubMedGoogle Scholar
  222. 222.
    Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H (2001) Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 56:749–752PubMedGoogle Scholar
  223. 223.
    Vihinen P, Kallioinen M, Vuoristo MS, Ivaska J, Syrjanen KJ, Hahka-Kemppinen M, Kellokumpu-Lehtinen PL, Pyrhonen SO (2007) Serum angiogenin levels predict treatment response in patients with stage IV melanoma. Clin Exp Metastasis 24:567–574PubMedGoogle Scholar
  224. 224.
    Volkening K, Leystra-Lantz C, Strong MJ (2009) Human low molecular weight neurofilament (NFL) mRNA interacts with a predicted p190RhoGEF homologue (RGNEF) in humans. Amyotroph Lateral Scler, Jun 2009 1:1–7Google Scholar
  225. 225.
    Volkening K, Leystra-Lantz C, Yang W, Jaffee H, Strong MJ (2010) Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS). Brain Res, 11 Dec 2009;1305:168–182Google Scholar
  226. 226.
    Wang IF, Wu LS, Chang HY, Shen CK (2008) TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor. J Neurochem 105:797–806PubMedGoogle Scholar
  227. 227.
    Wang X, Arai S, Song X, Reichart D, Du K, Pascual G, Tempst P, Rosenfeld MG, Glass CK, Kurokawa R (2008) Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription. Nature 454:126–130PubMedGoogle Scholar
  228. 228.
    Waterman-Storer CM, Karki SB, Kuznetsov SA, Tabb JS, Weiss DG, Langford GM, Holzbaur EL (1997) The interaction between cytoplasmic dynein and dynactin is required for fast axonal transport. Proc Natl Acad Sci U S A 94:12180–12185PubMedGoogle Scholar
  229. 229.
    Winkler GS, Kristjuhan A, Erdjument-Bromage H, Tempst P, Svejstrup JQ (2002) Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo. Proc Natl Acad Sci U S A 99:3517–3522PubMedGoogle Scholar
  230. 230.
    Winkler GS, Petrakis TG, Ethelberg S, Tokunaga M, Erdjument-Bromage H, Tempst P, Svejstrup JQ (2001) RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes. J Biol Chem 276:32743–32749PubMedGoogle Scholar
  231. 231.
    Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF (2007) Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol 62:609–617PubMedGoogle Scholar
  232. 232.
    Xiao S, Tjostheim S, Sanelli T, McLean JR, Horne P, Fan Y, Ravits J, Strong MJ, Robertson J (2008) An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology. J Neurosci 28:1833–1840PubMedGoogle Scholar
  233. 233.
    Xiong HL, Wang JY, Sun YM, Wu JJ, Chen Y, Qiao K, Zheng QJ, Zhao GX, Wu ZY (2010) Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. BMC Med Genet 11:8PubMedGoogle Scholar
  234. 234.
    Xu ZP, Tsuji T, Riordan JF, Hu GF (2003) Identification and characterization of an angiogenin-binding DNA sequence that stimulates luciferase reporter gene expression. Biochemistry 42:121–128PubMedGoogle Scholar
  235. 235.
    Xu ZP, Tsuji T, Riordan JF, Hu GF (2002) The nuclear function of angiogenin in endothelial cells is related to rRNA production. Biochem Biophys Res Commun 294:287–292PubMedGoogle Scholar
  236. 236.
    Yamasaki S, Ivanov P, Hu GF, Anderson P (2009) Angiogenin cleaves tRNA and promotes stress-induced translational repression. J Cell Biol 185:35–42PubMedGoogle Scholar
  237. 237.
    Yang L, Embree LJ, Tsai S, Hickstein DD (1998) Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing. J Biol Chem 273:27761–27764PubMedGoogle Scholar
  238. 238.
    Yoshimura A, Fujii R, Watanabe Y, Okabe S, Fukui K, Takumi T (2006) Myosin-Va facilitates the accumulation of mRNA/protein complex in dendritic spines. Curr Biol 16:2345–2351PubMedGoogle Scholar
  239. 239.
    Zhang YJ, Xu YF, Dickey CA, Buratti E, Baralle F, Bailey R, Pickering-Brown S, Dickson D, Petrucelli L (2007) Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43. J Neurosci 27:10530–10534PubMedGoogle Scholar
  240. 240.
    Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, Dreyfuss G (2008) SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 133:585–600PubMedGoogle Scholar
  241. 241.
    Zhao H, Grossman HB, Delclos GL, Hwang LY, Troisi CL, Chamberlain RM, Chenoweth MA, Zhang H, Spitz MR, Wu X (2005) Increased plasma levels of angiogenin and the risk of bladder carcinoma: from initiation ot recurrence. Cancer 104:30–35PubMedGoogle Scholar
  242. 242.
    Zhao ZH, Chen WZ, Wu ZY, Wang N, Zhao GX, Chen WJ, Murong SX (2009) A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 10:118–122PubMedGoogle Scholar
  243. 243.
    Zinszner H, Albalat R, Ron D (1994) A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP. Genes Dev 8:2513–2526PubMedGoogle Scholar
  244. 244.
    Zinszner H, Sok J, Immanuel D, Yin Y, Ron D (1997) TLS (FUS) binds RNA in vivo and engages in nucleo-cytoplasmic shuttling. J Cell Sci 110(Pt 15):1741–1750PubMedGoogle Scholar
  245. 245.
    Zou T, Ilangovan R, Yu F, Xu Z, Zhou J (2007) SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochem Biophys Res Commun 364:850–855PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Department of NeurologyUniversity of Massachusetts Medical SchoolWorcesterUSA
  2. 2.Department of NeurologyUniversity Medical Center UtrechtUtrechtThe Netherlands

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