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Volumn 21, Issue 2, 2013, Pages 380-387

RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLEBLIND LIKE 1 PROTEIN; SMALL INTERFERING RNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 84873414139     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2012.222     Document Type: Article
Times cited : (70)

References (34)
  • 1
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr, HT and Zoghbi, HY (2007). Trinucleotide repeat disorders. Annu Rev Neurosci 30: 575-621.
    • (2007) Annu Rev Neurosci , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 2
    • 33749038875 scopus 로고    scopus 로고
    • RNA-dominant diseases
    • Osborne, RJ and Thornton, CA (2006). RNA-dominant diseases. Hum Mol Genet 15 Spec No 2: R162-R169.
    • (2006) Hum Mol Genet , vol.15 , Issue.SPEC. NO. 2
    • Osborne, R.J.1    Thornton, C.A.2
  • 3
    • 77953536158 scopus 로고    scopus 로고
    • Roles of trinucleotide-repeat RNA in neurological disease and degeneration
    • Li, LB and Bonini, NM (2010). Roles of trinucleotide-repeat RNA in neurological disease and degeneration. Trends Neurosci 33: 292-298.
    • (2010) Trends Neurosci , vol.33 , pp. 292-298
    • Li, L.B.1    Bonini, N.M.2
  • 4
    • 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, Aburatani, H 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.
    • (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    Aburatani, H.6
  • 5
    • 0003740896 scopus 로고    scopus 로고
    • W.B. Saunders: London, Philadelphia
    • Harper, PS (2001). Myotonic Dystrophy. W.B. Saunders: London, Philadelphia.
    • (2001) Myotonic Dystrophy
    • Harper, P.S.1
  • 6
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • rd (1994). Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 35: 104-107.
    • (1994) Ann Neurol , vol.35 , pp. 104-107
    • Thornton, C.A.1    Johnson, K.2    Moxley, R.T.3
  • 7
    • 0030841672 scopus 로고    scopus 로고
    • Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
    • Davis, BM, McCurrach, ME, Taneja, KL, Singer, RH and 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 USA 94: 7388-7393.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 7388-7393
    • Davis, B.M.1    McCurrach, M.E.2    Taneja, K.L.3    Singer, R.H.4    Housman, D.E.5
  • 8
    • 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, Thornton, CA et al. (2000). Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 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    Thornton, C.A.6
  • 9
    • 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 and Reddy, S (2005). MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J Biol Chem 280: 5773-5780.
    • (2005) J Biol Chem , vol.280 , pp. 5773-5780
    • Dansithong, W.1    Paul, S.2    Comai, L.3    Reddy, S.4
  • 10
    • 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, Moxley, RT et al. (2006). Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 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    Moxley, R.T.6
  • 11
    • 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 and Cooper, TA (2007). Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 28: 68-78.
    • (2007) Mol Cell , vol.28 , pp. 68-78
    • Kuyumcu-Martinez, N.M.1    Wang, G.S.2    Cooper, T.A.3
  • 12
    • 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, Swanson, MS et al. (2009). Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet 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    Swanson, M.S.6
  • 15
    • 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 and Thornton, CA (2007). Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 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
  • 16
    • 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, Dirksen, RT et al. (2009). Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 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    Dirksen, R.T.6
  • 18
    • 20444464014 scopus 로고    scopus 로고
    • Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells
    • Langlois, MA, Boniface, C, Wang, G, Alluin, J, Salvaterra, PM, Puymirat, J et al. (2005). Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. J Biol Chem 280: 16949-16954.
    • (2005) J Biol Chem , vol.280 , pp. 16949-16954
    • Langlois, M.A.1    Boniface, C.2    Wang, G.3    Alluin, J.4    Salvaterra, P.M.5    Puymirat, J.6
  • 19
    • 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, Henderson, D et al. (2000). Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 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    Henderson, D.6
  • 20
    • 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, M P, Jiang, H, Beck, CL, Bowers, WJ, Moxley, RT et al. (2002). Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10: 35-44.
    • (2002) Mol Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3    Beck, C.L.4    Bowers, W.J.5    Moxley, R.T.6
  • 21
    • 4744357297 scopus 로고    scopus 로고
    • Structural features of microRNA (miRNA) precursors and their relevance to miRNA biogenesis and small interfering RNA/short hairpin RNA design
    • Krol, J, Sobczak, K, Wilczynska, U, Drath, M, Jasinska, A, Kaczynska, D et al. (2004). Structural features of microRNA (miRNA) precursors and their relevance to miRNA biogenesis and small interfering RNA/short hairpin RNA design. J Biol Chem 279: 42230-42239.
    • (2004) J Biol Chem , vol.279 , pp. 42230-42239
    • Krol, J.1    Sobczak, K.2    Wilczynska, U.3    Drath, M.4    Jasinska, A.5    Kaczynska, D.6
  • 22
    • 33846699083 scopus 로고    scopus 로고
    • A hexanucleotide element directs microRNA nuclear import
    • Hwang, HW, Wentzel, EA and Mendell, JT (2007). A hexanucleotide element directs microRNA nuclear import. Science 315: 97-100.
    • (2007) Science , vol.315 , pp. 97-100
    • Hwang, H.W.1    Wentzel, E.A.2    Mendell, J.T.3
  • 23
    • 33847077134 scopus 로고    scopus 로고
    • Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specifc targets
    • Krol, J, Fiszer, A, Mykowska, A, Sobczak, K, de Mezer, M and Krzyzosiak, WJ (2007). Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specifc targets. Mol Cell 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    Krzyzosiak, W.J.6
  • 24
    • 82955233889 scopus 로고    scopus 로고
    • Stabilization of expanded (CTG)·(CAG) repeats by antisense oligonucleotides
    • Nakamori, M, Gourdon, G and Thornton, CA (2011). Stabilization of expanded (CTG)·(CAG) repeats by antisense oligonucleotides. Mol Ther 19: 2222-2227.
    • (2011) Mol Ther , vol.19 , pp. 2222-2227
    • Nakamori, M.1    Gourdon, G.2    Thornton, C.A.3
  • 25
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specifc chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet-B, N, Savkur, RS, Singh, G, Philips, AV, Grice, EA and Cooper, TA (2002). Loss of the muscle-specifc chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 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
  • 27
    • 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, Tsunemi, T et al. (2009). Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 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    Tsunemi, T.6
  • 28
    • 77954171034 scopus 로고    scopus 로고
    • Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCΔ to mitochondria in spinocerebellar ataxia 10
    • White, MC, Gao, R, Xu, W, Mandal, SM, Lim, JG, Hazra, TK et al. (2010). Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCΔ to mitochondria in spinocerebellar ataxia 10. PLoS Genet 6: e1000984.
    • (2010) PLoS Genet , vol.6
    • White, M.C.1    Gao, R.2    Xu, W.3    Mandal, S.M.4    Lim, J.G.5    Hazra, T.K.6
  • 29
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez, M, Mackenzie, IR, Boeve, BF, Boxer, AL, Baker, M, Rutherford, NJ et al. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256.
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    MacKenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 30
    • 80051549115 scopus 로고    scopus 로고
    • Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
    • Kobayashi, H, Abe, K, Matsuura, T, Ikeda, Y, Hitomi, T, Akechi, Y et al. (2011). Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet 89: 121-130.
    • (2011) Am J Hum Genet , vol.89 , pp. 121-130
    • Kobayashi, H.1    Abe, K.2    Matsuura, T.3    Ikeda, Y.4    Hitomi, T.5    Akechi, Y.6
  • 31
    • 66149181896 scopus 로고    scopus 로고
    • Allele-specifc silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs
    • Hu, J, Matsui, M, Gagnon, KT, Schwartz, JC, Gabillet, S, Arar, K et al. (2009). Allele-specifc silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs. Nat Biotechnol 27: 478-484.
    • (2009) Nat Biotechnol , vol.27 , pp. 478-484
    • Hu, J.1    Matsui, M.2    Gagnon, K.T.3    Schwartz, J.C.4    Gabillet, S.5    Arar, K.6
  • 32
    • 79956023002 scopus 로고    scopus 로고
    • Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference
    • de Mezer, M, Wojciechowska, M, Napierala, M, Sobczak, K and Krzyzosiak, WJ (2011). Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference. Nucleic Acids Res 39: 3852-3863.
    • (2011) Nucleic Acids Res , vol.39 , pp. 3852-3863
    • De Mezer, M.1    Wojciechowska, M.2    Napierala, M.3    Sobczak, K.4    Krzyzosiak, W.J.5
  • 33
    • 80052250736 scopus 로고    scopus 로고
    • Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats
    • Fiszer, A, Mykowska, A and Krzyzosiak, WJ (2011). Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats. Nucleic Acids Res 39: 5578-5585.
    • (2011) Nucleic Acids Res , vol.39 , pp. 5578-5585
    • Fiszer, A.1    Mykowska, A.2    Krzyzosiak, W.J.3
  • 34
    • 33845915511 scopus 로고    scopus 로고
    • Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy
    • Lueck, JD, Mankodi, A, Swanson, MS, Thornton, CA and Dirksen, RT (2007). Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J Gen Physiol 129: 79-94.
    • (2007) J Gen Physiol , vol.129 , pp. 79-94
    • Lueck, J.D.1    Mankodi, A.2    Swanson, M.S.3    Thornton, C.A.4    Dirksen, R.T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.