메뉴 건너뛰기




Volumn 1, Issue 1, 2010, Pages 173-192

Repeat expansion diseases: When a good RNA turns bad

Author keywords

[No Author keywords available]

Indexed keywords

RNA; RNA BINDING PROTEIN; REPETITIVE DNA;

EID: 84857740318     PISSN: 17577004     EISSN: 17577012     Source Type: Journal    
DOI: 10.1002/wrna.18     Document Type: Review
Times cited : (5)

References (132)
  • 1
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3 end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, et al. 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 1992, 68: 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5
  • 3
    • 28744442194 scopus 로고    scopus 로고
    • Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
    • Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 2005, 14: 3661-3671.
    • (2005) Hum Mol Genet , vol.14 , pp. 3661-3671
    • Arocena, D.G.1    Iwahashi, C.K.2    Won, N.3    Beilina, A.4    Ludwig, A.L.5
  • 4
    • 0031953529 scopus 로고    scopus 로고
    • Localization of trinucleotide repeat sequences in myotonic dystrophy cells using a single fluorochrome-labeled PNA probe
    • Taneja KL. Localization of trinucleotide repeat sequences in myotonic dystrophy cells using a single fluorochrome-labeled PNA probe. Biotechniques 1998, 24: 472-476.
    • (1998) Biotechniques , vol.24 , pp. 472-476
    • Taneja, K.L.1
  • 5
    • 34147185192 scopus 로고    scopus 로고
    • Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci
    • Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, et al. Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci. Ann Neurol 2007, 61: 272-282.
    • (2007) Ann Neurol , vol.61 , pp. 272-282
    • Rudnicki, D.D.1    Holmes, S.E.2    Lin, M.W.3    Thornton, C.A.4    Ross, C.A.5
  • 6
    • 0344100057 scopus 로고    scopus 로고
    • SCA10 and ATTCT repeat expansion: clinical features and molecular aspects
    • Lin X, Ashizawa T. SCA10 and ATTCT repeat expansion: clinical features and molecular aspects. Cytogenet Genome Res 2003, 100: 184-188.
    • (2003) Cytogenet Genome Res , vol.100 , pp. 184-188
    • Lin, X.1    Ashizawa, T.2
  • 7
    • 0345526827 scopus 로고    scopus 로고
    • Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2
    • Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, et al. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 2003, 54: 760-768.
    • (2003) Ann Neurol , vol.54 , pp. 760-768
    • Mankodi, A.1    Teng-Umnuay, P.2    Krym, M.3    Henderson, D.4    Swanson, M.5
  • 9
    • 70450203364 scopus 로고    scopus 로고
    • Pathogenic mechanisms of myotonic dystrophy
    • Lee JE, Cooper TA. Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 2009, 37: 1281-1286.
    • (2009) Biochem Soc Trans , vol.37 , pp. 1281-1286
    • Lee, J.E.1    Cooper, T.A.2
  • 10
    • 45749147456 scopus 로고    scopus 로고
    • RNA toxicity is a component of ataxin-3 degeneration in Drosophila
    • Li LB, Yu Z, Teng X, Bonini NM. RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 2008, 453: 1107-1111.
    • (2008) Nature , vol.453 , pp. 1107-1111
    • Li, L.B.1    Yu, Z.2    Teng, X.3    Bonini, N.M.4
  • 11
    • 1542380523 scopus 로고    scopus 로고
    • The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila
    • Mutsuddi M, Marshall CM, Benzow KA, Koob MD, Rebay I. The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. Curr Biol 2004, 14: 302-308.
    • (2004) Curr Biol , vol.14 , pp. 302-308
    • Mutsuddi, M.1    Marshall, C.M.2    Benzow, K.A.3    Koob, M.D.4    Rebay, I.5
  • 12
    • 61449095749 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci
    • Chen IC, Lin HY, Lee GC, Kao SH, Chen CM, et al. Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol 2009, 10: 9.
    • (2009) BMC Mol Biol , vol.10 , pp. 9
    • Chen, I.C.1    Lin, H.Y.2    Lee, G.C.3    Kao, S.H.4    Chen, C.M.5
  • 13
    • 71849083831 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n
    • Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, et al. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 2009, 85: 544-557.
    • (2009) Am J Hum Genet , vol.85 , pp. 544-557
    • Sato, N.1    Amino, T.2    Kobayashi, K.3    Asakawa, S.4    Ishiguro, T.5
  • 14
    • 18144402411 scopus 로고    scopus 로고
    • Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles
    • Handa V, Goldwater D, Stiles D, Cam M, Poy G, et al. Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett 2005, 579: 2702-2708.
    • (2005) FEBS Lett , vol.579 , pp. 2702-2708
    • Handa, V.1    Goldwater, D.2    Stiles, D.3    Cam, M.4    Poy, G.5
  • 15
    • 30344441794 scopus 로고    scopus 로고
    • Protein composition of the intranuclear inclusions of FXTAS
    • Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, et al. Protein composition of the intranuclear inclusions of FXTAS. Brain 2006, 129: 256-271.
    • (2006) Brain , vol.129 , pp. 256-271
    • Iwahashi, C.K.1    Yasui, D.H.2    An, H.J.3    Greco, C.M.4    Tassone, F.5
  • 16
  • 17
    • 52049085768 scopus 로고    scopus 로고
    • Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments
    • Roze E, Saudou F, Caboche J. Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments. Curr Opin Neurol 2008, 21: 497-503.
    • (2008) Curr Opin Neurol , vol.21 , pp. 497-503
    • Roze, E.1    Saudou, F.2    Caboche, J.3
  • 18
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994, 6: 9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3    Tanaka, H.4    Igarashi, S.5
  • 19
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996, 14: 277-284.
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5
  • 20
    • 70450209513 scopus 로고    scopus 로고
    • Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice
    • Yu Z, Wang AM, Robins DM, Lieberman AP. Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. Dis Model Mech 2009, 2: 500-507.
    • (2009) Dis Model Mech , vol.2 , pp. 500-507
    • Yu, Z.1    Wang, A.M.2    Robins, D.M.3    Lieberman, A.P.4
  • 21
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997, 15: 62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5
  • 22
    • 65849122227 scopus 로고    scopus 로고
    • Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration
    • Garden GA, La Spada AR. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum 2008, 7: 138-149.
    • (2008) Cerebellum , vol.7 , pp. 138-149
    • Garden, G.A.1    La Spada, A.R.2
  • 24
    • 65849116838 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
    • Stevanin G, Brice A. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum 2008, 7: 170-178.
    • (2008) Cerebellum , vol.7 , pp. 170-178
    • Stevanin, G.1    Brice, A.2
  • 25
    • 69949170793 scopus 로고    scopus 로고
    • The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies
    • Bauer PO, Nukina N. The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies. J Neurochem 2009, 110: 1737-1765.
    • (2009) J Neurochem , vol.110 , pp. 1737-1765
    • Bauer, P.O.1    Nukina, N.2
  • 26
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995, 128: 995-1002.
    • (1995) J Cell Biol , vol.128 , pp. 995-1002
    • Taneja, K.L.1    McCurrach, M.2    Schalling, M.3    Housman, D.4    Singer, R.H.5
  • 27
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001, 293: 864-867.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3    Jacobsen, J.F.4    Kress, W.5
  • 28
    • 1842406027 scopus 로고    scopus 로고
    • CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins
    • Napierala M, Krzyzosiak WJ. CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins. J Biol Chem 1997, 272: 31079-31085.
    • (1997) J Biol Chem , vol.272 , pp. 31079-31085
    • Napierala, M.1    Krzyzosiak, W.J.2
  • 29
    • 13544270270 scopus 로고    scopus 로고
    • CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts
    • Sobczak K, Krzyzosiak WJ. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J Biol Chem 2005, 280: 3898-3910.
    • (2005) J Biol Chem , vol.280 , pp. 3898-3910
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 31
    • 0034282958 scopus 로고    scopus 로고
    • Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
    • Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. Embo J 2000, 19: 4439-4448.
    • (2000) Embo J , vol.19 , pp. 4439-4448
    • Miller, J.W.1    Urbinati, C.R.2    Teng-Umnuay, P.3    Stenberg, M.G.4    Byrne, B.J.5
  • 32
    • 34548718165 scopus 로고    scopus 로고
    • Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs
    • Yuan Y, Compton SA, Sobczak K, Stenberg MG, Thornton CA, et al. Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res 2007, 35: 5474-5486.
    • (2007) Nucleic Acids Res , vol.35 , pp. 5474-5486
    • Yuan, Y.1    Compton, S.A.2    Sobczak, K.3    Stenberg, M.G.4    Thornton, C.A.5
  • 34
    • 33746796393 scopus 로고    scopus 로고
    • Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
    • Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, et al. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A 2006, 103: 11748-11753.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 11748-11753
    • Kanadia, R.N.1    Shin, J.2    Yuan, Y.3    Beattie, S.G.4    Wheeler, T.M.5
  • 35
    • 23744450059 scopus 로고    scopus 로고
    • Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy
    • Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, et al. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci 2005, 118: 2923-2933.
    • (2005) J Cell Sci , vol.118 , pp. 2923-2933
    • Ho, T.H.1    Savkur, R.S.2    Poulos, M.G.3    Mancini, M.A.4    Swanson, M.S.5
  • 36
    • 33644858553 scopus 로고    scopus 로고
    • The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing
    • Pascual M, Vicente M, Monferrer L, Artero R. The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing. Differentiation 2006, 74: 65-80.
    • (2006) Differentiation , vol.74 , pp. 65-80
    • Pascual, M.1    Vicente, M.2    Monferrer, L.3    Artero, R.4
  • 37
    • 11044233708 scopus 로고    scopus 로고
    • Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
    • Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 2004, 13: 3079-3088.
    • (2004) Hum Mol Genet , vol.13 , pp. 3079-3088
    • Jiang, H.1    Mankodi, A.2    Swanson, M.S.3    Moxley, R.T.4    Thornton, C.A.5
  • 38
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002, 10: 45-53.
    • (2002) Mol Cell , vol.10 , pp. 45-53
    • Charlet, B.N.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5
  • 39
    • 71049162902 scopus 로고    scopus 로고
    • MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
    • Kino Y, Washizu C, Oma Y, Onishi H, Nezu Y, et al. MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res 2009, 37: 6477-6490.
    • (2009) Nucleic Acids Res , vol.37 , pp. 6477-6490
    • Kino, Y.1    Washizu, C.2    Oma, Y.3    Onishi, H.4    Nezu, Y.5
  • 40
    • 14044252328 scopus 로고    scopus 로고
    • MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
    • Dansithong W, Paul S, Comai L, Reddy S. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 2005, 280: 5773-5780.
    • (2005) J Biol Chem , vol.280 , pp. 5773-5780
    • Dansithong, W.1    Paul, S.2    Comai, L.3    Reddy, S.4
  • 43
    • 33748529021 scopus 로고    scopus 로고
    • ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I
    • Leroy O, Dhaenens CM, Schraen-Maschke S, Belarbi K, Delacourte A, et al. ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I. J Neurosci Res 2006, 84: 852-859.
    • (2006) J Neurosci Res , vol.84 , pp. 852-859
    • Leroy, O.1    Dhaenens, C.M.2    Schraen-Maschke, S.3    Belarbi, K.4    Delacourte, A.5
  • 44
    • 33745248133 scopus 로고    scopus 로고
    • Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
    • Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 2006, 15: 2087-2097.
    • (2006) Hum Mol Genet , vol.15 , pp. 2087-2097
    • Lin, X.1    Miller, J.W.2    Mankodi, A.3    Kanadia, R.N.4    Yuan, Y.5
  • 45
    • 20444452898 scopus 로고    scopus 로고
    • Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy
    • Ho TH, Bundman D, Armstrong DL, Cooper TA. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 2005, 14: 1539-1547.
    • (2005) Hum Mol Genet , vol.14 , pp. 1539-1547
    • Ho, T.H.1    Bundman, D.2    Armstrong, D.L.3    Cooper, T.A.4
  • 46
    • 0037106539 scopus 로고    scopus 로고
    • Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
    • Buj-Bello A, Furling D, Tronchere H, Laporte J, Lerouge T, et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 2002, 11: 2297-2307.
    • (2002) Hum Mol Genet , vol.11 , pp. 2297-2307
    • Buj-Bello, A.1    Furling, D.2    Tronchere, H.3    Laporte, J.4    Lerouge, T.5
  • 48
    • 35748965847 scopus 로고    scopus 로고
    • Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1
    • Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, et al. Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Hum Mol Genet 2007, 16: 2834-2843.
    • (2007) Hum Mol Genet , vol.16 , pp. 2834-2843
    • Hino, S.1    Kondo, S.2    Sekiya, H.3    Saito, A.4    Kanemoto, S.5
  • 49
    • 34948872683 scopus 로고    scopus 로고
    • Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy
    • Wang GS, Kearney DL, De Biasi M, Taffet G, Cooper TA. Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest 2007, 117: 2802-2811.
    • (2007) J Clin Invest , vol.117 , pp. 2802-2811
    • Wang, G.S.1    Kearney, D.L.2    De Biasi, M.3    Taffet, G.4    Cooper, T.A.5
  • 50
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998, 280: 737-741.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 51
    • 36248932588 scopus 로고    scopus 로고
    • MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T
    • Warf MB, Berglund JA. MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA 2007, 13: 2238-2251.
    • (2007) RNA , vol.13 , pp. 2238-2251
    • Warf, M.B.1    Berglund, J.A.2
  • 52
    • 67349235521 scopus 로고    scopus 로고
    • Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2)
    • Salvatori S, Furlan S, Fanin M, Picard A, Pastorello E, et al. Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2). Neurol Sci 2009, 30: 185-192.
    • (2009) Neurol Sci , vol.30 , pp. 185-192
    • Salvatori, S.1    Furlan, S.2    Fanin, M.3    Picard, A.4    Pastorello, E.5
  • 53
    • 77953027492 scopus 로고    scopus 로고
    • Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2
    • Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, et al. Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2 Acta Neuropathol 2010, 119: 465-479.
    • (2010) Acta Neuropathol , vol.119 , pp. 465-479
    • Vihola, A.1    Bachinski, L.L.2    Sirito, M.3    Olufemi, S.E.4    Hajibashi, S.5
  • 54
    • 0029919450 scopus 로고    scopus 로고
    • Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
    • Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996, 24: 4407-4414.
    • (1996) Nucleic Acids Res , vol.24 , pp. 4407-4414
    • Timchenko, L.T.1    Miller, J.W.2    Timchenko, N.A.3    DeVore, D.R.4    Datar, K.V.5
  • 55
    • 22444446047 scopus 로고    scopus 로고
    • HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence
    • Kim DH, Langlois MA, Lee KB, Riggs AD, Puymirat J, et al. HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res 2005, 33: 3866-3874.
    • (2005) Nucleic Acids Res , vol.33 , pp. 3866-3874
    • Kim, D.H.1    Langlois, M.A.2    Lee, K.B.3    Riggs, A.D.4    Puymirat, J.5
  • 56
    • 0035394801 scopus 로고    scopus 로고
    • In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
    • Fardaei M, Larkin K, Brook JD, Hamshere MG. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res 2001, 29: 2766-2771.
    • (2001) Nucleic Acids Res , vol.29 , pp. 2766-2771
    • Fardaei, M.1    Larkin, K.2    Brook, J.D.3    Hamshere, M.G.4
  • 57
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
    • Sofola OA, Jin P, Qin Y, Duan R, Liu H, et al. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007, 55: 565-571.
    • (2007) Neuron , vol.55 , pp. 565-571
    • Sofola, O.A.1    Jin, P.2    Qin, Y.3    Duan, R.4    Liu, H.5
  • 58
    • 34547681603 scopus 로고    scopus 로고
    • Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
    • Jin P, Duan R, Qurashi A, Qin Y, Tian D, et al. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007, 55: 556-564.
    • (2007) Neuron , vol.55 , pp. 556-564
    • Jin, P.1    Duan, R.2    Qurashi, A.3    Qin, Y.4    Tian, D.5
  • 59
    • 0346373752 scopus 로고    scopus 로고
    • RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
    • Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 2004, 303: 383-387.
    • (2004) Science , vol.303 , pp. 383-387
    • Ebralidze, A.1    Wang, Y.2    Petkova, V.3    Ebralidse, K.4    Junghans, R.P.5
  • 60
    • 67650751240 scopus 로고    scopus 로고
    • Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients
    • Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, et al. Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol 2009, 175: 748-762.
    • (2009) Am J Pathol , vol.175 , pp. 748-762
    • Salisbury, E.1    Schoser, B.2    Schneider-Gold, C.3    Wang, G.L.4    Huichalaf, C.5
  • 61
    • 0033030565 scopus 로고    scopus 로고
    • Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro
    • Chai Y, Koppenhafer SL, Shoesmith SJ, Perez MK, Paulson HL. Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum Mol Genet 1999, 8: 673-682.
    • (1999) Hum Mol Genet , vol.8 , pp. 673-682
    • Chai, Y.1    Koppenhafer, S.L.2    Shoesmith, S.J.3    Perez, M.K.4    Paulson, H.L.5
  • 62
    • 0035878553 scopus 로고    scopus 로고
    • Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue
    • Peel AL, Rao RV, Cottrell BA, Hayden MR, Ellerby LM, et al. Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum Mol Genet 2001, 10: 1531-1538.
    • (2001) Hum Mol Genet , vol.10 , pp. 1531-1538
    • Peel, A.L.1    Rao, R.V.2    Cottrell, B.A.3    Hayden, M.R.4    Ellerby, L.M.5
  • 63
    • 0033983537 scopus 로고    scopus 로고
    • Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
    • Tian B, White RJ, Xia T, Welle S, Turner DH, et al. Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 2000, 6: 79-87.
    • (2000) RNA , vol.6 , pp. 79-87
    • Tian, B.1    White, R.J.2    Xia, T.3    Welle, S.4    Turner, D.H.5
  • 64
    • 27844468128 scopus 로고    scopus 로고
    • Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases
    • Malinina L. Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases. J Biomol Struct Dyn 2005, 23: 233-235.
    • (2005) J Biomol Struct Dyn , vol.23 , pp. 233-235
    • Malinina, L.1
  • 65
    • 33847077134 scopus 로고    scopus 로고
    • Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
    • Krol J, Fiszer A, Mykowska A, Sobczak K, de Mezer M, et al. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol Cell 2007, 25: 575-586.
    • (2007) Mol Cell , vol.25 , pp. 575-586
    • Krol, J.1    Fiszer, A.2    Mykowska, A.3    Sobczak, K.4    de Mezer, M.5
  • 66
    • 64549120650 scopus 로고    scopus 로고
    • Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy
    • Osborne RJ, Lin X, Welle S, Sobczak K, O'Rourke JR, et al. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet 2009, 18: 1471-1481.
    • (2009) Hum Mol Genet , vol.18 , pp. 1471-1481
    • Osborne, R.J.1    Lin, X.2    Welle, S.3    Sobczak, K.4    O'Rourke, J.R.5
  • 67
    • 34047153922 scopus 로고    scopus 로고
    • A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    • Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 2007, 39: 451-453.
    • (2007) Nat Genet , vol.39 , pp. 451-453
    • Risheg, H.1    Graham Jr, J.M.2    Clark, R.D.3    Rogers, R.C.4    Opitz, J.M.5
  • 68
    • 65549101751 scopus 로고    scopus 로고
    • Chromatin remodeling in the noncoding repeat expansion diseases
    • Kumari D, Usdin K. Chromatin remodeling in the noncoding repeat expansion diseases. J Biol Chem 2009, 284: 7413-7417.
    • (2009) J Biol Chem , vol.284 , pp. 7413-7417
    • Kumari, D.1    Usdin, K.2
  • 69
    • 0032837927 scopus 로고    scopus 로고
    • Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat
    • Alwazzan M, Newman E, Hamshere MG, Brook JD. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum Mol Genet 1999, 8: 1491-1497.
    • (1999) Hum Mol Genet , vol.8 , pp. 1491-1497
    • Alwazzan, M.1    Newman, E.2    Hamshere, M.G.3    Brook, J.D.4
  • 70
    • 0032993793 scopus 로고    scopus 로고
    • Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
    • Gennarelli M, Pavoni M, Amicucci P, Angelini C, Menegazzo E, et al. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. Neuromuscul Disord 1999, 9: 215-219.
    • (1999) Neuromuscul Disord , vol.9 , pp. 215-219
    • Gennarelli, M.1    Pavoni, M.2    Amicucci, P.3    Angelini, C.4    Menegazzo, E.5
  • 71
    • 0034788585 scopus 로고    scopus 로고
    • Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy
    • Frisch R, Singleton KR, Moses PA, Gonzalez IL, Carango P, et al. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Mol Genet Metab 2001, 74: 281-291.
    • (2001) Mol Genet Metab , vol.74 , pp. 281-291
    • Frisch, R.1    Singleton, K.R.2    Moses, P.A.3    Gonzalez, I.L.4    Carango, P.5
  • 72
    • 34948834723 scopus 로고    scopus 로고
    • Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
    • Kuyumcu-Martinez NM, Wang GS, Cooper TA. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 2007, 28: 68-78.
    • (2007) Mol Cell , vol.28 , pp. 68-78
    • Kuyumcu-Martinez, N.M.1    Wang, G.S.2    Cooper, T.A.3
  • 73
    • 72849117063 scopus 로고    scopus 로고
    • PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1
    • Wang GS, Kuyumcu-Martinez MN, Sarma S, Mathur N, Wehrens XH, et al. PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest 2009, 119: 3797-3806.
    • (2009) J Clin Invest , vol.119 , pp. 3797-3806
    • Wang, G.S.1    Kuyumcu-Martinez, M.N.2    Sarma, S.3    Mathur, N.4    Wehrens, X.H.5
  • 75
    • 44949120812 scopus 로고    scopus 로고
    • Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1
    • Salisbury E, Sakai K, Schoser B, Huichalaf C, Schneider-Gold C, et al. Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res 2008, 314: 2266-2278.
    • (2008) Exp Cell Res , vol.314 , pp. 2266-2278
    • Salisbury, E.1    Sakai, K.2    Schoser, B.3    Huichalaf, C.4    Schneider-Gold, C.5
  • 76
    • 0035896610 scopus 로고    scopus 로고
    • RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1
    • Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, et al. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 2001, 276: 7820-7826.
    • (2001) J Biol Chem , vol.276 , pp. 7820-7826
    • Timchenko, N.A.1    Cai, Z.J.2    Welm, A.L.3    Reddy, S.4    Ashizawa, T.5
  • 77
    • 69749101003 scopus 로고    scopus 로고
    • Absence of a differentiation defect in muscle satellite cells from DM2 patients
    • Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, et al. Absence of a differentiation defect in muscle satellite cells from DM2 patients. Neurobiol Dis 2009, 36: 181-190.
    • (2009) Neurobiol Dis , vol.36 , pp. 181-190
    • Pelletier, R.1    Hamel, F.2    Beaulieu, D.3    Patry, L.4    Haineault, C.5
  • 78
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006, 29: 259-277.
    • (2006) Annu Rev Neurosci , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 79
    • 76249102027 scopus 로고    scopus 로고
    • Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
    • Du H, Cline MS, Osborne RJ, Tuttle DL, Clark TA, et al. Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy Nat Struct Mol Biol 2010, 17: 187-193.
    • (2010) Nat Struct Mol Biol , vol.17 , pp. 187-193
    • Du, H.1    Cline, M.S.2    Osborne, R.J.3    Tuttle, D.L.4    Clark, T.A.5
  • 80
    • 0032472377 scopus 로고    scopus 로고
    • EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos
    • Paillard L, Omilli F, Legagneux V, Bassez T, Maniey D, et al. EDEN and EDEN-BP, a cis element and an associated factor that mediate sequence-specific mRNA deadenylation in Xenopus embryos. Embo J 1998, 17: 278-287.
    • (1998) Embo J , vol.17 , pp. 278-287
    • Paillard, L.1    Omilli, F.2    Legagneux, V.3    Bassez, T.4    Maniey, D.5
  • 81
    • 33646875518 scopus 로고    scopus 로고
    • CUG-BP binds to RNA substrates and recruits PARN deadenylase
    • Moraes KC, Wilusz CJ, Wilusz J. CUG-BP binds to RNA substrates and recruits PARN deadenylase. RNA 2006, 12: 1084-1091.
    • (2006) RNA , vol.12 , pp. 1084-1091
    • Moraes, K.C.1    Wilusz, C.J.2    Wilusz, J.3
  • 82
    • 38649132594 scopus 로고    scopus 로고
    • Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1
    • Vlasova IA, Tahoe NM, Fan D, Larsson O, Rattenbacher B, et al. Conserved GU-rich elements mediate mRNA decay by binding to CUG-binding protein 1. Mol Cell 2008, 29: 263-270.
    • (2008) Mol Cell , vol.29 , pp. 263-270
    • Vlasova, I.A.1    Tahoe, N.M.2    Fan, D.3    Larsson, O.4    Rattenbacher, B.5
  • 83
    • 53049095405 scopus 로고    scopus 로고
    • The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy
    • Zhang L, Lee JE, Wilusz J, Wilusz CJ. The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy. J Biol Chem 2008, 283: 22457-22463.
    • (2008) J Biol Chem , vol.283 , pp. 22457-22463
    • Zhang, L.1    Lee, J.E.2    Wilusz, J.3    Wilusz, C.J.4
  • 84
    • 0037106022 scopus 로고    scopus 로고
    • Tumor necrosis factor-alpha and myocardial function in patients with myotonic dystrophy type 1
    • Mammarella A, Ferroni P, Paradiso M, Martini F, Paoletti V, et al. Tumor necrosis factor-alpha and myocardial function in patients with myotonic dystrophy type 1. J Neurol Sci 2002, 201: 59-64.
    • (2002) J Neurol Sci , vol.201 , pp. 59-64
    • Mammarella, A.1    Ferroni, P.2    Paradiso, M.3    Martini, F.4    Paoletti, V.5
  • 85
    • 1542320700 scopus 로고    scopus 로고
    • Competition of CUGBP1 and calreticulin for the regulation of p21 translation determines cell fate
    • Iakova P, Wang GL, Timchenko L, Michalak M, Pereira-Smith OM, et al. Competition of CUGBP1 and calreticulin for the regulation of p21 translation determines cell fate. Embo J 2004, 23: 406-417.
    • (2004) Embo J , vol.23 , pp. 406-417
    • Iakova, P.1    Wang, G.L.2    Timchenko, L.3    Michalak, M.4    Pereira-Smith, O.M.5
  • 86
    • 0033570899 scopus 로고    scopus 로고
    • CUG repeat binding protein (CUGBP1) interacts with the 5' region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms
    • Timchenko NA, Welm AL, Lu X, Timchenko LT. CUG repeat binding protein (CUGBP1) interacts with the 5' region of C/EBPbeta mRNA and regulates translation of C/EBPbeta isoforms. Nucleic Acids Res 1999, 27: 4517-4525.
    • (1999) Nucleic Acids Res , vol.27 , pp. 4517-4525
    • Timchenko, N.A.1    Welm, A.L.2    Lu, X.3    Timchenko, L.T.4
  • 87
    • 1842529234 scopus 로고    scopus 로고
    • Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis
    • Timchenko NA, Patel R, Iakova P, Cai ZJ, Quan L, et al. Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J Biol Chem 2004, 279: 13129-13139.
    • (2004) J Biol Chem , vol.279 , pp. 13129-13139
    • Timchenko, N.A.1    Patel, R.2    Iakova, P.3    Cai, Z.J.4    Quan, L.5
  • 88
    • 0028980027 scopus 로고
    • Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
    • Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, et al. et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995, 11: 216-218.
    • (1995) Nat Genet , vol.11 , pp. 216-218
    • Helbling-Leclerc, A.1    Zhang, X.2    Topaloglu, H.3    Cruaud, C.4    Tesson, F.5
  • 89
    • 0035912809 scopus 로고    scopus 로고
    • Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
    • Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001, 98: 7516-7521.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 7516-7521
    • Camacho Vanegas, O.1    Bertini, E.2    Zhang, R.Z.3    Petrini, S.4    Minosse, C.5
  • 90
    • 0026757138 scopus 로고
    • Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumura K, Tome FM, Collin H, Azibi K, Chaouch M, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992, 359: 320-322.
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumura, K.1    Tome, F.M.2    Collin, H.3    Azibi, K.4    Chaouch, M.5
  • 91
    • 33750070428 scopus 로고    scopus 로고
    • The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis
    • Kanagawa M, Toda T. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J Hum Genet 2006, 51: 915-926.
    • (2006) J Hum Genet , vol.51 , pp. 915-926
    • Kanagawa, M.1    Toda, T.2
  • 92
    • 54049141673 scopus 로고    scopus 로고
    • The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
    • Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, et al. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. J Med Genet 2008, 45: 639-646.
    • (2008) J Med Genet , vol.45 , pp. 639-646
    • Botta, A.1    Rinaldi, F.2    Catalli, C.3    Vergani, L.4    Bonifazi, E.5
  • 93
    • 0141974939 scopus 로고    scopus 로고
    • Structures of trinucleotide repeats in human transcripts and their functional implications
    • Jasinska A, Michlewski G, de Mezer M, Sobczak K, Kozlowski P, et al. Structures of trinucleotide repeats in human transcripts and their functional implications. Nucleic Acids Res 2003, 31: 5463-5468.
    • (2003) Nucleic Acids Res , vol.31 , pp. 5463-5468
    • Jasinska, A.1    Michlewski, G.2    de Mezer, M.3    Sobczak, K.4    Kozlowski, P.5
  • 95
    • 4444323468 scopus 로고    scopus 로고
    • Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
    • Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG. Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion.Hum Mol Genet 2004, 13: 1815-1825.
    • (2004) Hum Mol Genet , vol.13 , pp. 1815-1825
    • Gomes-Pereira, M.1    Fortune, M.T.2    Ingram, L.3    McAbney, J.P.4    Monckton, D.G.5
  • 96
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000, 26: 191-194.
    • (2000) Nat Genet , vol.26 , pp. 191-194
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3    Rasmussen, A.4    Grewal, R.P.5
  • 97
    • 23844546925 scopus 로고    scopus 로고
    • The AUUCU repeats responsible for spinocerebellar ataxia type 10 form unusual RNA hairpins
    • Handa V, Yeh HJ, McPhie P, Usdin K. The AUUCU repeats responsible for spinocerebellar ataxia type 10 form unusual RNA hairpins. J Biol Chem 2005, 280: 29340-29345.
    • (2005) J Biol Chem , vol.280 , pp. 29340-29345
    • Handa, V.1    Yeh, H.J.2    McPhie, P.3    Usdin, K.4
  • 98
    • 17844394198 scopus 로고    scopus 로고
    • Recent progress in spinocerebellar ataxia type-10 (SCA10)
    • Lin X, Ashizawa T. Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum 2005, 4: 37-42.
    • (2005) Cerebellum , vol.4 , pp. 37-42
    • Lin, X.1    Ashizawa, T.2
  • 99
    • 4143125649 scopus 로고    scopus 로고
    • Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability
    • Sobczak K, Krzyzosiak WJ. Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Hum Mutat 2004, 24: 236-247.
    • (2004) Hum Mutat , vol.24 , pp. 236-247
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 100
    • 4744366210 scopus 로고    scopus 로고
    • Imperfect CAG repeats form diverse structures in SCA1 transcripts
    • Sobczak K, Krzyzosiak WJ. Imperfect CAG repeats form diverse structures in SCA1 transcripts. J Biol Chem 2004, 279: 41563-41572.
    • (2004) J Biol Chem , vol.279 , pp. 41563-41572
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 101
    • 33744762160 scopus 로고    scopus 로고
    • DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
    • Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 2006, 15: 1808-1815.
    • (2006) Hum Mol Genet , vol.15 , pp. 1808-1815
    • Margolis, J.M.1    Schoser, B.G.2    Moseley, M.L.3    Day, J.W.4    Ranum, L.P.5
  • 102
    • 33747651583 scopus 로고    scopus 로고
    • The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10
    • Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, et al. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology 2006, 67: 607-613.
    • (2006) Neurology , vol.67 , pp. 607-613
    • Wakamiya, M.1    Matsuura, T.2    Liu, Y.3    Schuster, G.C.4    Gao, R.5
  • 103
    • 0031941447 scopus 로고    scopus 로고
    • The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
    • Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998, 62: 111-121.
    • (1998) Am J Hum Genet , vol.62 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 104
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
    • Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 2000, 66: 6-15.
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5
  • 105
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991, 252: 1097-1102.
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberle, I.1    Rousseau, F.2    Heitz, D.3    Kretz, C.4    Devys, D.5
  • 106
    • 34548441225 scopus 로고    scopus 로고
    • Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles
    • Holt I, Mittal S, Furling D, Butler-Browne GS, Brook JD, et al. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. Genes Cells 2007, 12: 1035-1048.
    • (2007) Genes Cells , vol.12 , pp. 1035-1048
    • Holt, I.1    Mittal, S.2    Furling, D.3    Butler-Browne, G.S.4    Brook, J.D.5
  • 107
    • 40649083064 scopus 로고    scopus 로고
    • Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
    • Orengo JP, Chambon P, Metzger D, Mosier DR, Snipes GJ, et al. Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A 2008, 105: 2646-2651.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 2646-2651
    • Orengo, J.P.1    Chambon, P.2    Metzger, D.3    Mosier, D.R.4    Snipes, G.J.5
  • 108
    • 0034622926 scopus 로고    scopus 로고
    • Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
    • Mankodi A, Logigian E, Callahan L, McClain C, White R, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000, 289: 1769-1773.
    • (2000) Science , vol.289 , pp. 1769-1773
    • Mankodi, A.1    Logigian, E.2    Callahan, L.3    McClain, C.4    White, R.5
  • 109
    • 33748311991 scopus 로고    scopus 로고
    • Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
    • Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel-McCardell CD, et al. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet 2006, 38: 1066-1070.
    • (2006) Nat Genet , vol.38 , pp. 1066-1070
    • Mahadevan, M.S.1    Yadava, R.S.2    Yu, Q.3    Balijepalli, S.4    Frenzel-McCardell, C.D.5
  • 110
    • 17844376789 scopus 로고    scopus 로고
    • Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective
    • Michlewski G, Krzyzosiak WJ. Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective. Cerebellum 2005, 4: 19-24.
    • (2005) Cerebellum , vol.4 , pp. 19-24
    • Michlewski, G.1    Krzyzosiak, W.J.2
  • 111
    • 31644446676 scopus 로고    scopus 로고
    • Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)
    • Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, et al. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta 2006, 1762: 329-334.
    • (2006) Biochim Biophys Acta , vol.1762 , pp. 329-334
    • Botta, A.1    Caldarola, S.2    Vallo, L.3    Bonifazi, E.4    Fruci, D.5
  • 112
    • 20044371186 scopus 로고    scopus 로고
    • Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts
    • Mastroyiannopoulos NP, Feldman ML, Uney JB, Mahadevan MS, Phylactou LA. Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts. EMBO Rep 2005, 6: 458-463.
    • (2005) EMBO Rep , vol.6 , pp. 458-463
    • Mastroyiannopoulos, N.P.1    Feldman, M.L.2    Uney, J.B.3    Mahadevan, M.S.4    Phylactou, L.A.5
  • 113
    • 58049101868 scopus 로고    scopus 로고
    • Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features
    • Dansithong W, Wolf CM, Sarkar P, Paul S, Chiang A, et al. Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features. PLoS ONE 2008, 3: e3968.
    • (2008) PLoS ONE , vol.3
    • Dansithong, W.1    Wolf, C.M.2    Sarkar, P.3    Paul, S.4    Chiang, A.5
  • 117
    • 0038103702 scopus 로고    scopus 로고
    • Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions
    • Furling D, Doucet G, Langlois MA, Timchenko L, Belanger E, et al. Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. Gene Ther 2003, 10: 795-802.
    • (2003) Gene Ther , vol.10 , pp. 795-802
    • Furling, D.1    Doucet, G.2    Langlois, M.A.3    Timchenko, L.4    Belanger, E.5
  • 119
    • 0037515553 scopus 로고    scopus 로고
    • Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts
    • Langlois MA, Lee NS, Rossi JJ, Puymirat J. Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts. Mol Ther 2003, 7: 670-680.
    • (2003) Mol Ther , vol.7 , pp. 670-680
    • Langlois, M.A.1    Lee, N.S.2    Rossi, J.J.3    Puymirat, J.4
  • 120
    • 20244378556 scopus 로고    scopus 로고
    • RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model
    • Harper SQ, Staber PD, He X, Eliason SL, Martins IH, et al. RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc Natl Acad Sci U S A 2005, 102: 5820-5825.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 5820-5825
    • Harper, S.Q.1    Staber, P.D.2    He, X.3    Eliason, S.L.4    Martins, I.H.5
  • 121
    • 70349643622 scopus 로고    scopus 로고
    • Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype
    • Scholefield J, Greenberg LJ, Weinberg MS, Arbuthnot PB, Abdelgany A, et al. Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. PLoS ONE 2009, 4: e7232.
    • (2009) PLoS ONE , vol.4
    • Scholefield, J.1    Greenberg, L.J.2    Weinberg, M.S.3    Arbuthnot, P.B.4    Abdelgany, A.5
  • 122
    • 0032832305 scopus 로고    scopus 로고
    • Sequence-specific cleavage of Huntingtin mRNA by catalytic DNA
    • Yen L, Strittmatter SM, Kalb RG. Sequence-specific cleavage of Huntingtin mRNA by catalytic DNA. Ann Neurol 1999, 46: 366-373.
    • (1999) Ann Neurol , vol.46 , pp. 366-373
    • Yen, L.1    Strittmatter, S.M.2    Kalb, R.G.3
  • 123
    • 67650828361 scopus 로고    scopus 로고
    • Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
    • Wheeler TM, Sobczak K, Lueck JD, Osborne RJ, Lin X, et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009, 325: 336-339.
    • (2009) Science , vol.325 , pp. 336-339
    • Wheeler, T.M.1    Sobczak, K.2    Lueck, J.D.3    Osborne, R.J.4    Lin, X.5
  • 125
    • 70349493012 scopus 로고    scopus 로고
    • A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding
    • Arambula JF, Ramisetty SR, Baranger AM, Zimmerman SC. A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding. Proc Natl Acad Sci U S A 2009, 106: 16068-16073.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 16068-16073
    • Arambula, J.F.1    Ramisetty, S.R.2    Baranger, A.M.3    Zimmerman, S.C.4
  • 126
    • 67650506996 scopus 로고    scopus 로고
    • Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3
    • Pushechnikov A, Lee MM, Childs-Disney JL, Sobczak K, French JM, et al. Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3. J Am Chem Soc 2009, 131: 9767-9779.
    • (2009) J Am Chem Soc , vol.131 , pp. 9767-9779
    • Pushechnikov, A.1    Lee, M.M.2    Childs-Disney, J.L.3    Sobczak, K.4    French, J.M.5
  • 127
    • 57149094863 scopus 로고    scopus 로고
    • Dynamic combinatorial selection of molecules capable of inhibiting the (CUG) repeat RNA-MBNL1 interaction in vitro: discovery of lead compounds targeting myotonic dystrophy (DM1)
    • Gareiss PC, Sobczak K, McNaughton BR, Palde PB, Thornton CA, et al. Dynamic combinatorial selection of molecules capable of inhibiting the (CUG) repeat RNA-MBNL1 interaction in vitro: discovery of lead compounds targeting myotonic dystrophy (DM1). J Am Chem Soc 2008, 130: 16254-16261.
    • (2008) J Am Chem Soc , vol.130 , pp. 16254-16261
    • Gareiss, P.C.1    Sobczak, K.2    McNaughton, B.R.3    Palde, P.B.4    Thornton, C.A.5
  • 128
    • 33745288299 scopus 로고    scopus 로고
    • MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1
    • de Haro M, Al-Ramahi I, De Gouyon B, Ukani L, Rosa A, et al. MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet 2006, 15: 2138-2145.
    • (2006) Hum Mol Genet , vol.15 , pp. 2138-2145
    • de Haro, M.1    Al-Ramahi, I.2    De Gouyon, B.3    Ukani, L.4    Rosa, A.5
  • 129
    • 36849035575 scopus 로고    scopus 로고
    • Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
    • Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 2007, 117: 3952-3957.
    • (2007) J Clin Invest , vol.117 , pp. 3952-3957
    • Wheeler, T.M.1    Lueck, J.D.2    Swanson, M.S.3    Dirksen, R.T.4    Thornton, C.A.5
  • 130
    • 20044363444 scopus 로고    scopus 로고
    • PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions
    • Corbeil-Girard LP, Klein AF, Sasseville AM, Lavoie H, Dicaire MJ, et al. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiol Dis 2005, 18: 551-567.
    • (2005) Neurobiol Dis , vol.18 , pp. 551-567
    • Corbeil-Girard, L.P.1    Klein, A.F.2    Sasseville, A.M.3    Lavoie, H.4    Dicaire, M.J.5
  • 131
    • 70450191208 scopus 로고    scopus 로고
    • Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3
    • Jung J, Xu K, Lessing D, Bonini NM. Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3. Hum Mol Genet 2009, 18: 4843-4852.
    • (2009) Hum Mol Genet , vol.18 , pp. 4843-4852
    • Jung, J.1    Xu, K.2    Lessing, D.3    Bonini, N.M.4
  • 132
    • 38349171781 scopus 로고    scopus 로고
    • Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases
    • Branco J, Al-Ramahi I, Ukani L, Perez AM, Fernandez-Funez P, et al. Comparative analysis of genetic modifiers in Drosophila points to common and distinct mechanisms of pathogenesis among polyglutamine diseases. Hum Mol Genet 2008, 17: 376-390.
    • (2008) Hum Mol Genet , vol.17 , pp. 376-390
    • Branco, J.1    Al-Ramahi, I.2    Ukani, L.3    Perez, A.M.4    Fernandez-Funez, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.