메뉴 건너뛰기




Volumn 4, Issue 1, 2010, Pages 9-18

Hts-compatible patient-derived cell-based assay to identify small molecule modulators of aberrant splicing in myotonic dystrophy type 1

Author keywords

Alternative splicing; Cell based assay; Dm1; Hts; Myotonic dystrophy

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL 1; MUSCLE PROTEIN; MUSCLEBLIND 1 PROTEIN; MYOD PROTEIN; MYOTONIC DYSTROPHY PROTEIN KINASE; TELOMERASE REVERSE TRANSCRIPTASE; UNCLASSIFIED DRUG;

EID: 78249271398     PISSN: None     EISSN: 18753973     Source Type: Journal    
DOI: 10.2174/1875397301004010009     Document Type: Article
Times cited : (17)

References (56)
  • 1
    • 21444450805 scopus 로고    scopus 로고
    • Clinical and molecular aspects of the myotonic dystrophies: A review
    • Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005; 32: 1-18.
    • (2005) Muscle Nerve , vol.32 , pp. 1-18
    • Machuca-Tzili, L.1    Brook, D.2    Hilton-Jones, D.3
  • 2
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992; 255: 1253-5.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 3
    • 0027122152 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, 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; 69: 385.
    • (1992) Cell , vol.69 , pp. 385
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 4
    • 0026457624 scopus 로고
    • The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
    • Hunter A, Tsilfidis C, Mettler G, et al. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 1992; 29: 774-9.
    • (1992) J Med Genet , vol.29 , pp. 774-779
    • Hunter, A.1    Tsilfidis, C.2    Mettler, G.3
  • 6
    • 0034622926 scopus 로고    scopus 로고
    • Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
    • Mankodi A, Logigian E, Callahan L, 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
  • 7
    • 8944259903 scopus 로고    scopus 로고
    • Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
    • Reddy S, Smith DB, Rich MM, et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 1996; 13: 325-323.
    • (1996) Nat Genet , vol.13 , pp. 325-323
    • Reddy, S.1    Smith, D.B.2    Rich, M.M.3
  • 8
    • 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
  • 9
    • 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
  • 10
    • 0345505665 scopus 로고    scopus 로고
    • Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy
    • Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Am J Pathol 2003; 162: 1001-9.
    • (2003) Am J Pathol , vol.162 , pp. 1001-1009
    • Furling, D.1    Lam le, T.2    Agbulut, O.3    Butler-Browne, G.S.4    Morris, G.E.5
  • 11
    • 33745248133 scopus 로고    scopus 로고
    • Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
    • Lin X, Miller JW, Mankodi A, 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
  • 12
    • 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: 737-734.
    • (1998) Science , vol.280 , pp. 737-734
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 13
    • 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
  • 14
    • 58249106759 scopus 로고    scopus 로고
    • Muscleblind-like proteins: Similarities and differences in normal and myotonic dystrophy muscle
    • Holt I, Jacquemin V, Fardaei M, et al. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. Am J Pathol 2009; 174: 216-212.
    • (2009) Am J Pathol , vol.174 , pp. 216-212
    • Holt, I.1    Jacquemin, V.2    Fardaei, M.3
  • 15
    • 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, 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
  • 16
    • 0346243804 scopus 로고    scopus 로고
    • A muscleblind knockout model for myotonic dystrophy
    • Kanadia RN, Johnstone KA, Mankodi A, et al. A muscleblind knockout model for myotonic dystrophy. Science 2003; 302: 1978-1980.
    • (2003) Science , vol.302 , pp. 1978-1980
    • Kanadia, R.N.1    Johnstone, K.A.2    Mankodi, A.3
  • 17
    • 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, et al. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci USA 2006; 103: 11748-11753.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 11748-11753
    • Kanadia, R.N.1    Shin, J.2    Yuan, Y.3
  • 18
    • 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
  • 19
    • 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: 3952-7.
    • (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
  • 20
    • 69549126597 scopus 로고    scopus 로고
    • Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy
    • Mulders SA, van den Broek WJ, Wheeler TM, et al. Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. Proc Natl Acad Sci USA 2009; 106: 13915-13920.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 13915-13920
    • Mulders, S.A.1    van den Broek, W.J.2    Wheeler, T.M.3
  • 21
    • 67650828361 scopus 로고    scopus 로고
    • Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA
    • Wheeler TM, Sobczak K, Lueck JD, et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 2009; 325: 336-9.
    • (2009) Science , vol.325 , pp. 336-339
    • Wheeler, T.M.1    Sobczak, K.2    Lueck, J.D.3
  • 22
    • 67650844512 scopus 로고    scopus 로고
    • Molecular biology. Neutralizing toxic RNA
    • Cooper TA. Molecular biology. Neutralizing toxic RNA. Science 2009; 325: 272-3.
    • (2009) Science , vol.325 , pp. 272-273
    • Cooper, T.A.1
  • 23
    • 42449106583 scopus 로고    scopus 로고
    • Which aspects of HTS are empirically correlated with downstream success?
    • Bender A, Bojanic D, Davies JW, et al. Which aspects of HTS are empirically correlated with downstream success? Curr Opin Drug Discov Devel 2008; 11: 327-323.
    • (2008) Curr Opin Drug Discov Devel , vol.11 , pp. 327-323
    • Bender, A.1    Bojanic, D.2    Davies, J.W.3
  • 24
    • 0035028126 scopus 로고    scopus 로고
    • Cell-based versus isolated target screening: How lucky do you feel?
    • Moore K, Rees S. Cell-based versus isolated target screening: how lucky do you feel? J Biomol Screen 2001; 6: 69-74.
    • (2001) J Biomol Screen , vol.6 , pp. 69-74
    • Moore, K.1    Rees, S.2
  • 25
    • 20844442133 scopus 로고    scopus 로고
    • Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors
    • Soret J, Bakkour N, Maire S, et al. Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors. Proc Natl Acad Sci USA 2005; 102: 8764-9.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 8764-8769
    • Soret, J.1    Bakkour, N.2    Maire, S.3
  • 26
    • 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, 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
  • 27
    • 34548263375 scopus 로고    scopus 로고
    • Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy
    • Kuyumcu-Martinez NM, Cooper TA. Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol 2006; 44: 133-135.
    • (2006) Prog Mol Subcell Biol , vol.44 , pp. 133-135
    • Kuyumcu-Martinez, N.M.1    Cooper, T.A.2
  • 28
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • Mankodi A, Takahashi MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002; 10: 35-44.
    • (2002) Mol Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3
  • 29
    • 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, Cooper TA. 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    Cooper, T.A.6
  • 30
    • 0027451872 scopus 로고
    • Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)
    • Koch MC, Ricker K, Otto M, et al. Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker). J Med Genet 1993; 30: 914-7.
    • (1993) J Med Genet , vol.30 , pp. 914-917
    • Koch, M.C.1    Ricker, K.2    Otto, M.3
  • 32
    • 28644442724 scopus 로고    scopus 로고
    • Comparison of single regulated lentiviral vectors with rtTA expression driven by an autoregulatory loop or a constitutive promoter
    • Markusic D, Oude-Elferink R, Das AT, Berkhout B, Seppen J. Comparison of single regulated lentiviral vectors with rtTA expression driven by an autoregulatory loop or a constitutive promoter. Nucleic Acids Res 2005; 33: e63.
    • (2005) Nucleic Acids Res , vol.33 , pp. 63
    • Markusic, D.1    Oude-Elferink, R.2    Das, A.T.3    Berkhout, B.4    Seppen, J.5
  • 33
    • 0038167027 scopus 로고    scopus 로고
    • Site-directed mutagenesis using a single mutagenic oligonucleotide and DpnI digestion of template DNA
    • Shenoy AR, Visweswariah SS. Site-directed mutagenesis using a single mutagenic oligonucleotide and DpnI digestion of template DNA. Anal Biochem 2003; 319: 335-6.
    • (2003) Anal Biochem , vol.319 , pp. 335-336
    • Shenoy, A.R.1    Visweswariah, S.S.2
  • 34
    • 0032440891 scopus 로고    scopus 로고
    • Dissociation among in vitro telomerase activity, telomere maintenance, and cellular immortalization
    • Counter CM, Hahn WC, Wei W, et al. Dissociation among in vitro telomerase activity, telomere maintenance, and cellular immortalization. Proc Natl Acad Sci USA 1998; 95: 14723-8.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 14723-14728
    • Counter, C.M.1    Hahn, W.C.2    Wei, W.3
  • 35
    • 0034783271 scopus 로고    scopus 로고
    • Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
    • Mankodi A, Urbinati CR, Yuan QP, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001; 10: 2165-2170.
    • (2001) Hum Mol Genet , vol.10 , pp. 2165-2170
    • Mankodi, A.1    Urbinati, C.R.2    Yuan, Q.P.3
  • 36
    • 8944235350 scopus 로고    scopus 로고
    • Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
    • Jansen G, Groenen PJ, Bachner D, et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 1996; 13: 316-312.
    • (1996) Nat Genet , vol.13 , pp. 316-312
    • Jansen, G.1    Groenen, P.J.2    Bachner, D.3
  • 37
    • 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, Cooper TA. 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 USA 2008; 105: 2646-2651.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 2646-2651
    • Orengo, J.P.1    Chambon, P.2    Metzger, D.3    Mosier, D.R.4    Snipes, G.J.5    Cooper, T.A.6
  • 38
    • 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
  • 40
    • 33748311991 scopus 로고    scopus 로고
    • Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy
    • Mahadevan MS, Yadava RS, Yu Q, 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
  • 41
    • 19544367095 scopus 로고    scopus 로고
    • Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy
    • O'Cochlain DF, Perez-Terzic C, Reyes S, et al. Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. Hum Mol Genet 2004; 13: 2505-2518.
    • (2004) Hum Mol Genet , vol.13 , pp. 2505-2518
    • O'Cochlain, D.F.1    Perez-Terzic, C.2    Reyes, S.3
  • 42
    • 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, Timchenko LT. 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    Timchenko, L.T.6
  • 43
    • 0025337282 scopus 로고
    • SV40 immortalizes myogenic cells: DNA synthesis and mitosis in differentiating myotubes
    • Iujvidin S, Fuchs O, Nudel U, Yaffe D. SV40 immortalizes myogenic cells: DNA synthesis and mitosis in differentiating myotubes. Differentiation 1990; 43: 192-203.
    • (1990) Differentiation , vol.43 , pp. 192-203
    • Iujvidin, S.1    Fuchs, O.2    Nudel, U.3    Yaffe, D.4
  • 44
    • 0024294014 scopus 로고
    • MyoD1: A nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts
    • Tapscott SJ, Davis RL, Thayer MJ, Cheng PF, Weintraub H, Lassar AB. MyoD1: a nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts. Science 1988; 242: 405-401.
    • (1988) Science , vol.242 , pp. 405-401
    • Tapscott, S.J.1    Davis, R.L.2    Thayer, M.J.3    Cheng, P.F.4    Weintraub, H.5    Lassar, A.B.6
  • 45
    • 0037064571 scopus 로고    scopus 로고
    • Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD
    • Amack JD, Reagan SR, Mahadevan MS. Mutant DMPK 3'-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD. J Cell Biol 2002; 159: 419-412.
    • (2002) J Cell Biol , vol.159 , pp. 419-412
    • Amack, J.D.1    Reagan, S.R.2    Mahadevan, M.S.3
  • 48
    • 0030068744 scopus 로고    scopus 로고
    • Myogenin expression, cell cycle withdrawal, and phenotypic differentiation are temporally separable events that precede cell fusion upon myogenesis
    • Andres V, Walsh K. Myogenin expression, cell cycle withdrawal, and phenotypic differentiation are temporally separable events that precede cell fusion upon myogenesis. J Cell Biol 1996; 132: 657-656.
    • (1996) J Cell Biol , vol.132 , pp. 657-656
    • Andres, V.1    Walsh, K.2
  • 49
    • 0041426742 scopus 로고    scopus 로고
    • Telomerase reverse transcriptase promoter regulation during myogenic differentiation of human RD rhabdomyosarcoma cells
    • Ma H, Urquidi V, Wong J, Kleeman J, Goodison S. Telomerase reverse transcriptase promoter regulation during myogenic differentiation of human RD rhabdomyosarcoma cells. Mol Cancer Res 2003; 1: 739-734.
    • (2003) Mol Cancer Res , vol.1 , pp. 739-734
    • Ma, H.1    Urquidi, V.2    Wong, J.3    Kleeman, J.4    Goodison, S.5
  • 51
    • 34948834723 scopus 로고    scopus 로고
    • Increased steadystate levels of CUGBP1 in myotonic dystrophy 1 are due to PKCmediated hyperphosphorylation
    • Kuyumcu-Martinez NM, Wang GS, Cooper TA. Increased steadystate levels of CUGBP1 in myotonic dystrophy 1 are due to PKCmediated 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
  • 52
    • 16544378328 scopus 로고    scopus 로고
    • Altered expression of CUG binding protein 1 mRNA in myotonic dystrophy 1: Possible RNA-RNA interaction
    • Watanabe T, Takagi A, Sasagawa N, Ishiura S, Nakase H. Altered expression of CUG binding protein 1 mRNA in myotonic dystrophy 1: possible RNA-RNA interaction. Neurosci Res 2004; 49: 47-54.
    • (2004) Neurosci Res , vol.49 , pp. 47-54
    • Watanabe, T.1    Takagi, A.2    Sasagawa, N.3    Ishiura, S.4    Nakase, H.5
  • 53
    • 34948864433 scopus 로고    scopus 로고
    • Muscleblind- like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2
    • Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G. Muscleblind- like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Eur J Histochem 2006; 50: 177-178.
    • (2006) Eur J Histochem , vol.50 , pp. 177-178
    • Cardani, R.1    Mancinelli, E.2    Rotondo, G.3    Sansone, V.4    Meola, G.5
  • 54
    • 0030569298 scopus 로고    scopus 로고
    • Expression of chloride channel 1 mRNA in cultured myogenic cells: A marker of myotube maturation
    • Bardouille C, Vullhorst D, Jockusch H. Expression of chloride channel 1 mRNA in cultured myogenic cells: a marker of myotube maturation. FEBS Lett 1996; 396: 177-178.
    • (1996) FEBS Lett , vol.396 , pp. 177-178
    • Bardouille, C.1    Vullhorst, D.2    Jockusch, H.3
  • 55
    • 34047219170 scopus 로고    scopus 로고
    • Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy
    • Logigian EL, Ciafaloni E, Quinn LC, et al. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve 2007; 35: 479-478.
    • (2007) Muscle Nerve , vol.35 , pp. 479-478
    • Logigian, E.L.1    Ciafaloni, E.2    Quinn, L.C.3
  • 56
    • 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, 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.