RNA-binding protein misregulation in microsatellite expansion disorders

Advances in Experimental Medicine and Biology

Volumn 825, Issue , 2014, Pages 353-388

  Goodwin, Marianne ^a   Swanson, Maurice S ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Amyotrophic lateral sclerosis frontotemporal dementia; Microsatellite; Myotonic dystrophy; Neurological disease; Oculopharyngeal muscular dystrophy; RNA processing; RNA toxicity; Spinocerebellar ataxia

Indexed keywords

ATAXIN 3; FRAGILE X MENTAL RETARDATION PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; MESSENGER RNA; MICRORNA; RNA BINDING PROTEIN; MICROSATELLITE DNA; REPETITIVE DNA;

AMYOTROPHIC LATERAL SCLEROSIS; APOPTOSIS; ARTICLE; CAG REPEAT; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENE SILENCING; GENETIC DISORDER; HUMAN; HUNTINGTON DISEASE LIKE SYNDROME; KENNEDY DISEASE; MACHADO JOSEPH DISEASE; MICROSATELLITE EXPANSION DISORDER; MYOTONIC DYSTROPHY; NONHUMAN; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPEN READING FRAME; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN RNA BINDING; RNA PROCESSING; RNA TRANSLATION; RNA TRANSPORT; SIMPLE SEQUENCE REPEAT; SPINOCEREBELLAR DEGENERATION; TANDEM REPEAT; ANIMAL; DEMYELINATING DISEASE; GENETICS; METABOLISM; PATHOLOGY;

ANIMALS; DNA REPEAT EXPANSION; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; MICROSATELLITE REPEATS; RNA-BINDING PROTEINS;

EID: 84921968424     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-1-4939-1221-6_10     Document Type: Article

References (225)

1. Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA (2003) Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Hum Mol Genet 12: 2609-2623.
2. Adereth Y, Dammai V, Kose N, Li R, Hsu T (2005) RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1. Nat Cell Biol 7: 1240-1247.
3. Aizawa H, Sawada J, Hideyama T, Yamashita T, Katayama T, Hasebe N, Kimura T, Yahara O, Kwak S (2010) TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2. Acta Neuropathol 120: 75-84.
4. Akins MR, Berk-Rauch HE, Fallon JR (2009) Presynaptic translation: stepping out of the postsynaptic shadow. Front Neural Circuits 3: 17.
5. Al-Chalabi A, Jones A, Troakes C, King A, Al-Sarraj S, van den Berg LH (2012) The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol 124: 339-352.
6. Al-Sarraj S, King A, Troakes C, Smith B, Maekawa S, Bodi I, Rogelj B, Al-Chalabi A, Hortobagyi T, Shaw CE (2011) 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: 691-702.
7. Albrecht M, Golatta M, Wullner U, Lengauer T (2004) Structural and functional analysis of ataxin-2 and ataxin-3. Eur J Biochem 271: 3155-3170.
8. Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB (2013) Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol 126(3): 385-99.
9. Anvar SY, Hoen PA, Venema A, van der Sluijs B, van Engelen B, Snoeck M, Vissing J, Trollet C, Dickson G, Chartier A, Simonelig M, van Ommen GJ, van der Maarel SM, Raz V (2011) Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients. Skelet Muscle 1: 15.
10. Apponi LH, Leung SW, Williams KR, Valentini SR, Corbett AH, Pavlath GK (2010) Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis. Hum Mol Genet 19: 1058-1065.
11. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77: 639-646.
12. Banerjee A, Apponi LH, Pavlath GK, Corbett AH (2013) PABPN1: molecular function and muscle disease. FEBS J 280: 4230-4250.
13. Bassell GJ, Warren ST (2008) Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 60: 201-214.
14. Batra R, Charizanis K, Swanson MS (2010) Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet 19: R77-R82.
15. Beaulieu YB, Kleinman CL, Landry-Voyer AM, Majewski J, Bachand F (2012) Polyadenylationdependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear PLoS Genet 8: e1003078.
16. Berman RF, Willemsen R (2009) Mouse models of fragile X-associated tremor ataxia. J Investig Med 57: 837-841.
17. Bhakar AL, Dolen G, Bear MF (2012) The pathophysiology of fragile X (and what it teaches us about synapses). Annu Rev Neurosci 35: 417-443.
18. Bhogal B, Jongens TA (2010) Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention. Dis Model Mech 3: 693-700.
19. Bomsztyk K, Denisenko O, Ostrowski J (2004) hnRNP K: one protein multiple processes. Bioessays 26: 629-638.
20. Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, Gullotta F, Massa R, Novelli G, Loreni F (2006) Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta 1762: 329-334.
21. Brais B (2009) Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr Neurol Neurosci Rep 9: 76-82.
22. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18: 164-167.
23. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808.
24. Budworth H, McMurray CT (2013) Bidirectional transcription of trinucleotide repeats: roles for excision repair. DNA Repair (Amst) 12: 672-684.
25. Buschiazzo E, Gemmell NJ (2010) Conservation of human microsatellites across 450 million years of evolution. Genome Biol Evol 2: 153-165.
26. Cardani R, Mancinelli E, Giagnacovo M, Sansone V, Meola G (2009) Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. Eur J Histochem 53: 107-111.
27. Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G (2006) Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Eur J Histochem 50: 177-182.
28. Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G, Kumar A, Ashizawa T, Clark HB, Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares M Jr, Darnell RB, Swanson MS (2012) Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron 75: 437-450.
29. Chartier A, Benoit B, Simonelig M (2006) A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. EMBO J 25: 2253-2262.
30. Chen IC, Lin HY, Lee GC, Kao SH, Chen CM, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ (2009) Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol 10: 9.
31. Chen W, Wang Y, Abe Y, Cheney L, Udd B, Li YP (2007) Haploinsuffciency for Znf9 in Znf9+/-mice is associated with multiorgan abnormalities resembling myotonic dystrophy. J Mol Biol 368: 8-17.
32. Cherng N, Shishkin AA, Schlager LI, Tuck RH, Sloan L, Matera R, Sarkar PS, Ashizawa T, Freudenreich CH, Mirkin SM (2011) Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast. Proc Natl Acad Sci U S A 108: 2843-2848.
33. Ciechanover A, Brundin P (2003) The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg. Neuron 40: 427-446.
34. Cleary JD, Ranum LP (2013) Repeat-associated non-ATG (RAN) translation in neurological disease. Hum Mol Genet 22(R1): R45-R51.
35. Coffee B, Zhang F, Warren ST, Reines D (1999) Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat Genet 22: 98-101.
36. Collins M, Riascos D, Kovalik T, An J, Krupa K, Krupa K, Hood BL, Conrads TP, Renton AE, Traynor BJ, Bowser R (2012) The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. Acta Neuropathol 124: 717-732.
37. Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, Saint-Denis A, Page M, Duranceau A, Codere F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y, Brais B (2005) PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiol Dis 18: 551-567.
38. Costa Mdo C, Paulson HL (2012) Toward understanding Machado-Joseph disease. Prog Neurobiol 97: 239-257.
39. Cziko AM, McCann CT, Howlett IC, Barbee SA, Duncan RP, Luedemann R, Zarnescu D, Zinsmaier KE, Parker RR, Ramaswami M (2009) Genetic modifiers of dFMR1 encode RNA granule components in Drosophila. Genetics 182: 1051-1060.
40. Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB (2001) Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107: 489-499.
41. Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, Fraser CE, Stone EF, Chen C, Fak JJ, Chi SW, Licatalosi DD, Richter JD, Darnell RB (2011) FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 146: 247-261.
42. Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP (2009) RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet 5: e1000600.
43. Davies JE, Sarkar S, Rubinsztein DC (2006) Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet 15: 23-31.
44. Davies JE, Wang L, Garcia-Oroz L, Cook LJ, Vacher C, O'Donovan DG, Rubinsztein DC (2005) Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat Med 11: 672-677.
45. Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE (1997) Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A 94: 7388-7393.
46. de Klerk E, Venema A, Anvar SY, Goeman JJ, Hu O, Trollet C, Dickson G, den Dunnen JT, van der Maarel SM, Raz V, t Hoen PA (2012) Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation. Nucleic Acids Res 40: 9089-9101.
47. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256.
48. Dennissen FJ, Kholod N, van Leeuwen FW (2012) The ubiquitin proteasome system in neurodegenerative diseases: culprit, accomplice or victim? Prog Neurobiol 96: 190-207.
49. Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, Hodges JR, Kwok JB (2012) C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 79: 995-1001.
50. Doolittle WF, Sapienza C (1980) Selfish genes, the phenotype paradigm and genome evolution. Nature 284: 601-603.
51. Du H, Cline MS, Osborne RJ, Tuttle DL, Clark TA, Donohue JP, Hall MP, Shiue L, Swanson MS, Thornton CA, Ares M Jr (2010) Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol 17: 187-193.
52. Echeverria GV, Cooper TA (2012) RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res 1462: 100-111.
53. Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rub U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD (2010) Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075.
54. Finkbeiner S (2011) Huntington's disease. Cold Spring Harb Perspect Biol 3.
55. Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH (2012) RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet 21: 4171-4186.
56. Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep 2: 1016.
57. Friedman JE (2011) Anticipation in hereditary disease: the history of a biomedical concept. Hum Genet 130: 705-714.
58. Fu Y, Ramisetty SR, Hussain N, Baranger AM (2012) MBNL1-RNA recognition: contributions of MBNL1 sequence and RNA conformation. ChemBioChem 13: 112-119.
59. Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258.
60. Gambardella S, Rinaldi F, Lepore SM, Viola A, Loro E, Angelini C, Vergani L, Novelli G, Botta A (2010) Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med 8: 48.
61. Gehman LT, Stoilov P, Maguire J, Damianov A, Lin CH, Shiue L, Ares M Jr, Mody I, Black DL (2011) The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet 43: 706-711.
62. Gemayel R, Vinces MD, Legendre M, Verstrepen KJ (2010) Variable tandem repeats accelerate evolution of coding and regulatory sequences. Annu Rev Genet 44: 445-477.
63. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C (2012) 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: 54-65.
64. Giordana MT, Ferrero P, Grifoni S, Pellerino A, Naldi A, Montuschi A (2011) Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review. Neurol Sci 32: 9-16.
65. Goers ES, Purcell J, Voelker RB, Gates DP, Berglund JA (2010) MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing. Nucleic Acids Res 38: 2467-2484.
66. Goti D, Katzen SM, Mez J, Kurtis N, Kiluk J, Ben-Haiem L, Jenkins NA, Copeland NG, Kakizuka A, Sharp AH, Ross CA, Mouton PR, Colomer V (2004) A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J Neurosci 24: 10266-10279.
67. Graff-Radford NR, Woodruff BK (2007) Frontotemporal dementia. Semin Neurol 27: 48-57.
68. Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125: 1760-1771.
69. Gros-Louis F, Gaspar C, Rouleau GA (2006) Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta 1762: 956-972.
70. Ha AD, Fung VS (2012) Huntington's disease. Curr Opin Neurol 25: 491-498.
71. Haacke A, Broadley SA, Boteva R, Tzvetkov N, Hartl FU, Breuer P (2006) Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3. Hum Mol Genet 15: 555-568.
72. Hagerman PJ, Hagerman RJ (2004) Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment Retard Dev Disabil Res Rev 10: 25-30.
73. Hashem V, Galloway JN, Mori M, Willemsen R, Oostra BA, Paylor R, Nelson DL (2009) Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet 18: 2443-2451.
74. Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE (2009) Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. Am J Med Genet A 149A: 1125-1137.
75. Hersheson J, Haworth A, Houlden H (2012) The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 33: 1324-1332.
76. Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23: 3103-3112.
77. Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA (2005) Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci 118: 2923-2933.
78. Hokkanen S, Feldmann HM, Ding H, Jung CK, Bojarski L, Renner-Muller I, Schuller U, Kretzschmar H, Wolf E, Herms J (2012) Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet 21: 473-484.
79. Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL (2001) A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 29: 377-378.
80. Hsu RJ, Hsiao KM, Lin MJ, Li CY, Wang LC, Chen LK, Pan H (2011) Long tract of untranslated CAG repeats is deleterious in transgenic mice. PLoS One 6: e16417.
81. Huichalaf C, Schoser B, Schneider-Gold C, Jin B, Sarkar P, Timchenko L (2009) Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J Neurosci 29: 9042-9049.
82. Huynh DP, Figueroa K, Hoang N, Pulst SM (2000) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet 26: 44-50.
83. Ikeda Y, Daughters RS, Ranum LP (2008) Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum 7: 150-158.
84. Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, Babineau B, Lebrilla CB, Hagerman RJ, Hagerman PJ (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain 129: 256-271.
85. Jansen A, Gemayel R, Verstrepen KJ (2012) Unstable microsatellite repeats facilitate rapid evolution of coding and regulatory sequences. Genome Dyn 7: 108-125.
86. Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G et al (1992) Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet 1: 261-266.
87. Jenal M, Elkon R, Loayza-Puch F, van Haaften G, Kuhn U, Menzies FM, Oude Vrielink JA, Bos AJ, Drost J, Rooijers K, Rubinsztein DC, Agami R (2012) The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites. Cell 149: 538-553.
88. Jin P, Duan R, Qurashi A, Qin Y, Tian D, Rosser TC, Liu H, Feng Y, Warren ST (2007) Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 55: 556-564.
89. Johnson EM, Kinoshita Y, Weinreb DB, Wortman MJ, Simon R, Khalili K, Winckler B, Gordon J (2006) Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites. J Neurosci Res 83: 929-943.
90. Junghans RP (2009) Dystrophia myotonia: why focus on foci? Eur J Hum Genet 17: 543-553.
91. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS (2003a) A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-1980.
92. Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, Swanson MS (2003b) Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns 3: 459-462.
93. Kawahara Y, Ito K, Sun H, Aizawa H, Kanazawa I, Kwak S (2004) Glutamate receptors: RNA editing and death of motor neurons. Nature 427: 801.
94. Kenneson A, Zhang F, Hagedorn CH, Warren ST (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10: 1449-1454.
95. Kim DH, Langlois MA, Lee KB, Riggs AD, Puymirat J, Rossi JJ (2005) HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res 33: 3866-3874.
96. Klein AF, Ebihara M, Alexander C, Dicaire MJ, Sasseville AM, Langelier Y, Rouleau GA, Brais B (2008) PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Exp Cell Res 314: 1652-1666.
97. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21: 379-384.
98. Koyano S, Uchihara T, Fujigasaki H, Nakamura A, Yagishita S, Iwabuchi K (1999) Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study. Neurosci Lett 273: 117-120.
99. Krzyzosiak WJ, Sobczak K, Wojciechowska M, Fiszer A, Mykowska A, Kozlowski P (2012) Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target. Nucleic Acids Res 40: 11-26.
100. Kuyumcu-Martinez NM, Wang GS, Cooper TA (2007) Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 28: 68-78.
101. 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: 1205-1208.
102. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79.
103. Laurent FX, Sureau A, Klein AF, Trouslard F, Gasnier E, Furling D, Marie J (2012) New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats. Nucleic Acids Res 40: 3159-3171.
104. Leehey MA, Hagerman PJ (2012) Fragile X-associated tremor/ataxia syndrome. Handb Clin Neurol 103: 373-386.
105. Lemay JF, Lemieux C, St-Andre O, Bachand F (2010) Crossing the borders: poly(A)-binding proteins working on both sides of the fence. RNA Biol 7: 291-295.
106. Levine TP, Daniels RD, Gatta AT, Wong LH, Hayes MJ (2013) The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 29: 499-503.
107. Li LB, Yu Z, Teng X, Bonini NM (2008) RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 453: 1107-1111.
108. Li Y, Jin P (2012) RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res 1462: 112-117.
109. Li YR, King OD, Shorter J, Gitler AD (2013) Stress granules as crucibles of ALS pathogenesis. J Cell Biol 201: 361-372.
110. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15: 2087-2097.
111. Ling SC, Polymenidou M, Cleveland DW (2013) Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis. Neuron 79: 416-438.
112. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293: 864-867.
113. Liu J, Tang TS, Tu H, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny I (2009) Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci 29: 9148-9162.
114. Lomen-Hoerth C, Anderson T, Miller B (2002) The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59: 1077-1079.
115. Lopez Castel A, Cleary JD, Pearson CE (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat Rev Mol Cell Biol 11: 165-170.
116. Lukong KE, Richard S (2008) Motor coordination defects in mice deficient for the Sam68 RNAbinding protein. Behav Brain Res 189: 357-363.
117. Magana JJ, Velazquez-Perez L, Cisneros B (2013) Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives. Mol Neurobiol 47: 90-104.
118. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255: 1253-1255.
119. Mahadevan MS (2012) Myotonic dystrophy: is a narrow focus obscuring the rest of the field? Curr Opin Neurol 25: 609-613.
120. Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Chromosome ALSFTDC, French research network on FFA, Consortium I, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 11: 323-330.
121. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289: 1769-1773.
122. Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP (2006) DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 15: 1808-1815.
123. Margolis RL, Holmes SE, Rosenblatt A, Gourley L, O'Hearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, MacDonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P (2004) Huntington's disease-like 2 (HDL2) in North America and Japan. Ann Neurol 56: 670-674.
124. Martin GM (2005) Genetic modulation of senescent phenotypes in Homo sapiens. Cell 120: 523-532.
125. Massa R, Panico MB, Caldarola S, Fusco FR, Sabatelli P, Terracciano C, Botta A, Novelli G, Bernardi G, Loreni F (2010) The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles. Neuropathol Appl Neurobiol 36: 275-284.
126. Matilla-Duenas A, Corral-Juan M, Volpini V, Sanchez I (2012) The spinocerebellar ataxias: clinical aspects and molecular genetics. Adv Exp Med Biol 724: 351-374.
127. McLennan Y, Polussa J, Tassone F, Hagerman R (2011) Fragile x syndrome. Curr Genomics 12: 216-224.
128. Messaed C, Dion PA, Abu-Baker A, Rochefort D, Laganiere J, Brais B, Rouleau GA (2007) Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. Neurobiol Dis 26: 546-557.
129. Messaed C, Rouleau GA (2009) Molecular mechanisms underlying polyalanine diseases. Neurobiol Dis 34: 397-405.
130. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19: 4439-4448.
131. Mirkin SM (2007) Expandable DNA repeats and human disease. Nature 447: 932-940.
132. Mori K, Lammich S, Mackenzie IR, Forne I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M, Herms J, Neumann M, Van Broeckhoven C, Arzberger T, Haass C (2013a) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125: 413-423.
133. Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D (2013b) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339: 1335-1338.
134. Morris MJ, Negishi Y, Pazsint C, Schonhoft JD, Basu S (2010) An RNA G-quadruplex is essential for cap-independent translation initiation in human VEGF IRES. J Am Chem Soc 132: 17831-17839.
135. Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP (2006) Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 38: 758-769.
136. Mrazek J, Guo X, Shah A (2007) Simple sequence repeats in prokaryotic genomes. Proc Natl Acad Sci U S A 104: 8472-8477.
137. Muslimov IA, Patel MV, Rose A, Tiedge H (2011) Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions. J Cell Biol 194: 441-457.
138. Mykowska A, Sobczak K, Wojciechowska M, Kozlowski P, Krzyzosiak WJ (2011) CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res 39: 8938-8951.
139. Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, Dekdebrun J, Heatwole CR, McDermott MP, Chen T, Cline M, Tawil R, Osborne RJ, Wheeler TM, Swanson M, Moxley RT 3rd, Thornton CA (2013) Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol 59(3): 474-477.
140. Nakamoto M, Nakano S, Kawashima S, Ihara M, Nishimura Y, Shinde A, Kakizuka A (2002) Unequal crossing-over in unique PABP2 mutations in Japanese patients: a possible cause of oculopharyngeal muscular dystrophy. Arch Neurol 59: 474-477.
141. Nelson DL, Orr HT, Warren ST (2013) The unstable repeats-three evolving faces of neurological disease. Neuron 77: 825-843.
142. Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IR (2009) A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain 132: 2922-2931.
143. 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: 130-133.
144. Nirenberg M (2004) Historical review: deciphering the genetic code-a personal account. Trends Biochem Sci 29: 46-54.
145. Ohashi S, Kobayashi S, Omori A, Ohara S, Omae A, Muramatsu T, Li Y, Anzai K (2000) The singlestranded DNA-and RNA-binding proteins pur alpha and pur beta link BC1 RNA to microtubules through binding to the dendrite-targeting RNA motifs. J Neurochem 75: 1781-1790.
146. Ohno S (1972) So much "junk" DNA in our genome. Brookhaven Symp Biol 23: 366-370.
147. Orgel LE, Crick FH (1980) Selfish DNA: the ultimate parasite. Nature 284: 604-607.
148. Orr HT (2012a) Cell biology of spinocerebellar ataxia. J Cell Biol 197: 167-177.
149. Orr HT (2012b) Polyglutamine neurodegeneration: expanded glutamines enhance native functions. Curr Opin Genet Dev 22: 251-255.
150. Orr HT, Zoghbi HY (2007) Trinucleotide repeat disorders. Annu Rev Neurosci 30: 575-621.
151. Paul S, Dansithong W, Jog SP, Holt I, Mittal S, Brook JD, Morris GE, Comai L, Reddy S (2011) Expanded CUG repeats dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex. J Biol Chem 286: 38427-38438.
152. Paul S, Dansithong W, Kim D, Rossi J, Webster NJ, Comai L, Reddy S (2006) Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J 25: 4271-4283.
153. Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19: 333-344.
154. Pearson CE (2011) Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet 7: e1002018.
155. Peprah E, He W, Allen E, Oliver T, Boyne A, Sherman SL (2010) Examination of FMR1 transcript and protein levels among 74 premutation carriers. J Hum Genet 55: 66-68.
156. Perbellini R, Greco S, Sarra-Ferraris G, Cardani R, Capogrossi MC, Meola G, Martelli F (2011) Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1. Neuromuscul Disord 21: 81-88.
157. Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280: 737-741.
158. Poulos MG, Batra R, Charizanis K, Swanson MS (2011) Developments in RNA splicing and disease. Cold Spring Harb Perspect Biol 3: a000778.
159. Querido E, Gallardo F, Beaudoin M, Menard C, Chartrand P (2011) Stochastic and reversible aggregation of mRNA with expanded CUG-triplet repeats. J Cell Sci 124: 1703-1714.
160. Rademakers R, Neumann M, Mackenzie IR (2012) Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol 8: 423-434.
161. Raheem O, Olufemi SE, Bachinski LL, Vihola A, Sirito M, Holmlund-Hampf J, Haapasalo H, Li YP, Udd B, Krahe R (2010) Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 177: 3025-3036.
162. Ralser M, Albrecht M, Nonhoff U, Lengauer T, Lehrach H, Krobitsch S (2005) An integrative approach to gain insights into the cellular function of human ataxin-2. J Mol Biol 346: 203-214.
163. Ramakrishnan P, Baltimore D (2011) Sam68 is required for both NF-kappaB activation and apoptosis signaling by the TNF receptor. Mol Cell 43: 167-179.
164. Ranum LP, Cooper TA (2006) RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29: 259-277.
165. Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N (2011) Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nat Struct Mol Biol 18: 840-845.
166. Ravel-Chapuis A, Belanger G, Yadava RS, Mahadevan MS, DesGroseillers L, Cote J, Jasmin BJ (2012) The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing. J Cell Biol 196: 699-712.
167. Raz V, Abraham T, van Zwet EW, Dirks RW, Tanke HJ, van der Maarel SM (2011) Reversible aggregation of PABPN1 pre-inclusion structures. Nucleus 2: 208-218.
168. Raz V, Butler-Browne G, van Engelen B, Brais B (2013) 191st ENMC international workshop: recent advances in oculopharyngeal muscular dystrophy research: from bench to bedside 8-10 June 2012, Naarden, The Netherlands. Neuromuscul Disord 23: 516-523.
169. Reddy K, Zamiri B, Stanley SY, Macgregor RB Jr, Pearson CE (2013) The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni-and multimolecular RNA G-quadruplex structures. J Biol Chem 288: 9860-9866.
170. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Consortium I, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268.
171. Richter JD (2007) CPEB: a life in translation. Trends Biochem Sci 32: 279-285.
172. Robberecht W, Philips T (2013) The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 14: 248-264.
173. Robinson DO, Wills AJ, Hammans SR, Read SP, Sillibourne J (2006) Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation. J Med Genet 43: e23.
174. Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN (2009) The heritability and genetics of frontotemporal lobar degeneration. Neurology 73: 1451-1456.
175. Rub U, Schols L, Paulson H, Auburger G, Kermer P, Jen JC, Seidel K, Korf HW, Deller T (2013) Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7. Prog Neurobiol 104: 38-66.
176. Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL (2007) Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol 61: 272-282.
177. Rudnicki DD, Pletnikova O, Vonsattel JP, Ross CA, Margolis RL (2008) A comparison of huntington disease and huntington disease-like 2 neuropathology. J Neuropathol Exp Neurol 67: 366-374.
178. Satterfield TF, Pallanck LJ (2006) Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet 15: 2523-2532.
179. Schneider-Gold C, Timchenko LT (2010) CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. Rev Neurosci 21: 19-28.
180. Seixas AI, Holmes SE, Takeshima H, Pavlovich A, Sachs N, Pruitt JL, Silveira I, Ross CA, Margolis RL, Rudnicki DD (2012) Loss of junctophilin-3 contributes to Huntington diseaselike 2 pathogenesis. Ann Neurol 71: 245-257.
181. Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N (2013) Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep 3: 869-880.
182. Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ, Hagerman PJ, Charlet-Berguerand N (2010) Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 29: 1248-1261.
183. Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolas H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suarez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sanchez I, Volpini V, Matilla-Duenas A (2013) New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol 70: 764-771.
184. Shibata H, Huynh DP, Pulst SM (2000) A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet 9: 1303-1313.
185. Shieh SY, Bonini NM (2011) Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila. Hum Mol Genet 20: 4810-4821.
186. Sicot G, Gomes-Pereira M (2013) RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies. Biochim Biophys Acta 1832: 1390-1409.
187. Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J (2005) Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett 382: 191-194.
188. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G (1993) The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74: 291-298.
189. Sofola OA, Jin P, Qin Y, Duan R, Liu H, de Haro M, Nelson DL, Botas J (2007) RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 55: 565-571.
190. Sun S, Zhang Z, Fregoso O, Krainer AR (2012) Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2. RNA 18: 274-283.
191. Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1: 397-400.
192. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128: 995-1002.
193. Tassone F, Hagerman R (2012) The fragile X-associated tremor ataxia syndrome. Results Probl Cell Differ 54: 337-357.
194. Tassone F, Hagerman RJ, Garcia-Arocena D, Khandjian EW, Greco CM, Hagerman PJ (2004a) Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 41: e43.
195. Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ (2000a) Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am J Med Genet 94: 232-236.
196. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ (2000b) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66: 6-15.
197. Tassone F, Hagerman RJ, Taylor AK, Mills JB, Harris SW, Gane LW, Hagerman PJ (2000c) Clinical involvement and protein expression in individuals with the FMR1 premutation. Am J Med Genet 91: 144-152.
198. Tassone F, Iwahashi C, Hagerman PJ (2004b) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 1: 103-105.
199. Teive HA, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T (2011) Spinocerebellar ataxia type 10-a review. Parkinsonism Relat Disord 17: 655-661.
200. Teplova M, Patel DJ (2008) Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1. Nat Struct Mol Biol 15: 1343-1351.
201. Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, Roberts R, Caskey CT, Swanson MS (1996) Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 24: 4407-4414.
202. Timchenko NA, Patel R, Iakova P, Cai ZJ, Quan L, Timchenko LT (2004) Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem 279: 13129-13139.
203. Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, Renoux AJ, Chen KC, Scaglione KM, Basrur V, Elenitoba-Johnson K, Vonsattel JP, Louis ED, Sutton MA, Taylor JP, Mills RE, Charlet-Berguerand N, Paulson HL (2013) CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 78: 440-455.
204. Tome FM, Chateau D, Helbling-Leclerc A, Fardeau M (1997) Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromuscul Disord 7(Suppl 1): S63-S69.
205. Tome FM, Fardeau M (1980) Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 49: 85-87.
206. Udd B, Krahe R (2012) The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 11: 891-905.
207. Underwood JG, Boutz PL, Dougherty JD, Stoilov P, Black DL (2005) Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals. Mol Cell Biol 25: 10005-10016.
208. Van Damme P, Robberecht W (2013) Clinical implications of recent breakthroughs in amyotrophic lateral sclerosis. Curr Opin Neurol 26(5): 466-472.
209. 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: 1208-1211.
210. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905-914.
211. Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, Xu W, Sarkar PS, Lin X, Ashizawa T (2006) The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology 67: 607-613.
212. Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, Brin MF (2002) Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 58: 1031-1037.
213. Wang ET, Cody NA, Jog S, Biancolella M, Wang TT, Treacy DJ, Luo S, Schroth GP, Housman DE, Reddy S, Lecuyer E, Burge CB (2012a) Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins. Cell 150: 710-724.
214. Wang LC, Chen KY, Pan H, Wu CC, Chen PH, Liao YT, Li C, Huang ML, Hsiao KM (2011) Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans. Cell Mol Life Sci 68: 1255-1267.
215. Wang T, Bray SM, Warren ST (2012b) New perspectives on the biology of fragile X syndrome. Curr Opin Genet Dev 22: 256-263.
216. Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, Bonini NM (1998) Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell 93: 939-949.
217. Wellington CL, Ellerby LM, Hackam AS, Margolis RL, Trifiro MA, Singaraja R, McCutcheon K, Salvesen GS, Propp SS, Bromm M, Rowland KJ, Zhang T, Rasper D, Roy S, Thornberry N, Pinsky L, Kakizuka A, Ross CA, Nicholson DW, Bredesen DE, Hayden MR (1998) Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem 273: 9158-9167.
218. White M, Xia G, Gao R, Wakamiya M, Sarkar PS, McFarland K, Ashizawa T (2012) Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res 90: 706-714.
219. White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, Wakamiya M, Edwards SF, Raskin S, Teive HA, Zoghbi HY, Sarkar PS, Ashizawa T (2010) Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet 6: e1000984.
220. Wilburn B, Rudnicki DD, Zhao J, Weitz TM, Cheng Y, Gu X, Greiner E, Park CS, Wang N, Sopher BL, La Spada AR, Osmand A, Margolis RL, Sun YE, Yang XW (2011) An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron 70: 427-440.
221. Winter R, Kuhn U, Hause G, Schwarz E (2012) Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1). J Biol Chem 287: 22662-22671.
222. Wojciechowska M, Krzyzosiak WJ (2011) Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum Mol Genet 20: 3811-3821.
223. Xu Z, Poidevin M, Li X, Li Y, Shu L, Nelson DL, Li H, Hales CM, Gearing M, Wingo TS, Jin P (2013) Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration. Proc Natl Acad Sci U S A 110: 7778-7783.
224. Zoghbi HY, Orr HT (2009) Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem 284: 7425-7429.
225. Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP (2011) Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A 108: 260-265.