메뉴 건너뛰기




Volumn 40, Issue 1, 2012, Pages 11-26

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

Author keywords

[No Author keywords available]

Indexed keywords

RNA; TRIPLET REPEAT RNA; UNCLASSIFIED DRUG;

EID: 84855259402     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkr729     Document Type: Article
Times cited : (141)

References (154)
  • 1
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • DOI 10.1146/annurev.neuro.29.051605.113042
    • Orr, H.T. and Zoghbi, H.Y. (2007) Trinucleotide repeat disorders. Annu. Rev. Neurosci., 30, 575-621. (Pubitemid 47218768)
    • (2007) Annual Review of Neuroscience , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 2
    • 77953536158 scopus 로고    scopus 로고
    • Roles of trinucleotide-repeat RNA in neurological disease and degeneration
    • Li, L.B. and Bonini, N.M. (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
  • 3
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • DOI 10.1146/annurev.neuro.29.051605.113014
    • Ranum, L.P. and Cooper, T.A. (2006) RNA-mediated neuromuscular disorders. Annu. Rev. Neurosci., 29, 259-277. (Pubitemid 44476846)
    • (2006) Annual Review of Neuroscience , vol.29 , pp. 259-277
    • Ranum, L.P.W.1    Cooper, T.A.2
  • 4
    • 77950529265 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration in repeat expansion disorders
    • Todd, P.K. and Paulson, H.L. (2010) RNA-mediated neurodegeneration in repeat expansion disorders. Ann. Neurol., 67, 291-300.
    • (2010) Ann. Neurol , vol.67 , pp. 291-300
    • Todd, P.K.1    Paulson, H.L.2
  • 5
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79. (Pubitemid 21896702)
    • (1991) Nature , vol.352 , Issue.6330 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 7
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 30 end of a transcript encoding a protein kinase family member
    • Brook, J.D., McCurrach, M.E., Harley, H.G., Buckler, A.J., Church, D., Aburatani, H., Hunter, K., Stanton, V.P., Thirion, J.P., Hudson, T. et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 30 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    Hunter, K.7    Stanton, V.P.8    Thirion, J.P.9    Hudson, T.10
  • 8
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group.
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. (1993) Cell, 72, 971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 11
    • 79251642948 scopus 로고    scopus 로고
    • Long tract of untranslated CAG repeats is deleterious in transgenic mice
    • Hsu, R.J., Hsiao, K.M., Lin, M.J., Li, C.Y., Wang, L.C., Chen, L.K. and Pan, H. (2011) Long tract of untranslated CAG repeats is deleterious in transgenic mice. PLoS One, 6, e16417.
    • (2011) PLoS One , vol.6
    • Hsu, R.J.1    Hsiao, K.M.2    Lin, M.J.3    Li, C.Y.4    Wang, L.C.5    Chen, L.K.6    Pan, H.7
  • 12
    • 80455168268 scopus 로고    scopus 로고
    • CAG repeats mimic CUG repeats in the misregulation of alternative splicing
    • doi:10.1093/nar/gkr1608; epub ahead of print; 27 July 2011
    • Mykowska, A., Sobczak, K., Wojciechowska, M., Kozlowski, P. and Krzyzosiak, W.J. (2011) CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res. (doi:10.1093/nar/gkr1608; epub ahead of print; 27 July 2011).
    • (2011) Nucleic Acids Res.
    • Mykowska, A.1    Sobczak, K.2    Wojciechowska, M.3    Kozlowski, P.4    Krzyzosiak, W.J.5
  • 15
    • 33645135860 scopus 로고    scopus 로고
    • RNAi: A potential therapy for the dominantly inherited nucleotide repeat diseases
    • Denovan-Wright, E.M. and Davidson, B.L. (2006) RNAi: a potential therapy for the dominantly inherited nucleotide repeat diseases. Gene Ther., 13, 525-531.
    • (2006) Gene Ther. , vol.13 , pp. 525-531
    • Denovan-Wright, E.M.1    Davidson, B.L.2
  • 16
    • 72449187177 scopus 로고    scopus 로고
    • Therapeutic gene silencing strategies for polyglutamine disorders
    • Scholefield, J. and Wood, M.J. (2010) Therapeutic gene silencing strategies for polyglutamine disorders. Trends Genet., 26, 29-38.
    • (2010) Trends Genet , vol.26 , pp. 29-38
    • Scholefield, J.1    Wood, M.J.2
  • 17
    • 0033858199 scopus 로고    scopus 로고
    • Microsatellites in different eukaryotic genomes: Surveys and analysis
    • DOI 10.1101/gr.10.7.967
    • Toth, G., Gaspari, Z. and Jurka, J. (2000) Microsatellites in different eukaryotic genomes: survey and analysis. Genome Res., 10, 967-981. (Pubitemid 30608632)
    • (2000) Genome Research , vol.10 , Issue.7 , pp. 967-981
    • Toth, G.1    Gaspari, Z.2    Jurka, J.3
  • 18
    • 3042782819 scopus 로고    scopus 로고
    • Microsatellites: Simple sequences with complex evolution
    • DOI 10.1038/nrg1348
    • Ellegren, H. (2004) Microsatellites: simple sequences with complex evolution. Nat. Rev. Genet., 5, 435-445. (Pubitemid 38915410)
    • (2004) Nature Reviews Genetics , vol.5 , Issue.6 , pp. 435-445
    • Ellegren, H.1
  • 19
    • 24644443227 scopus 로고    scopus 로고
    • The functional genomics of noncoding RNA
    • DOI 10.1126/science.1117806
    • Mattick, J.S. (2005) The functional genomics of noncoding RNA. Science, 309, 1527-1528. (Pubitemid 41266470)
    • (2005) Science , vol.309 , Issue.5740 , pp. 1527-1528
    • Mattick, J.S.1
  • 21
    • 2542449016 scopus 로고    scopus 로고
    • Repetitive sequences that shape the human transcriptome
    • DOI 10.1016/j.febslet.2004.03.109, PII S0014579304004570
    • Jasinska, A. and Krzyzosiak, W.J. (2004) Repetitive sequences that shape the human transcriptome. FEBS Lett., 567, 136-141. (Pubitemid 38686436)
    • (2004) FEBS Letters , vol.567 , Issue.1 , pp. 136-141
    • Jasinska, A.1    Krzyzosiak, W.J.2
  • 24
    • 33646130830 scopus 로고    scopus 로고
    • Simple sequence repeats as advantageous mutators in evolution
    • Kashi, Y. and King, D.G. (2006) Simple sequence repeats as advantageous mutators in evolution. Trends Genet., 22, 253-259.
    • (2006) Trends Genet. , vol.22 , pp. 253-259
    • Kashi, Y.1    King, D.G.2
  • 25
    • 0037268258 scopus 로고    scopus 로고
    • Genome-wide analysis of microsatellite repeats in humans: Their abundance and density in specific genomic regions
    • Subramanian, S., Mishra, R.K. and Singh, L. (2003) Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions. Genome Biol., 4, R13.
    • (2003) Genome Biol. , vol.4
    • Subramanian, S.1    Mishra, R.K.2    Singh, L.3
  • 26
    • 0242321791 scopus 로고    scopus 로고
    • Frequency and coverage of trinucleotide repeats in eukaryotes
    • DOI 10.1016/S0378-1119(03)00659-0
    • Astolfi, P., Bellizzi, D. and Sgaramella, V. (2003) Frequency and coverage of trinucleotide repeats in eukaryotes. Gene, 317, 117-125. (Pubitemid 37356925)
    • (2003) Gene , vol.317 , Issue.1-2 , pp. 117-125
    • Astolfi, P.1    Bellizzi, D.2    Sgaramella, V.3
  • 28
    • 0036072745 scopus 로고    scopus 로고
    • Tandem repeats in protein coding regions of primate genes
    • DOI 10.1101/gr.138802
    • Borstnik, B. and Pumpernik, D. (2002) Tandem repeats in protein coding regions of primate genes. Genome Res., 12, 909-915. (Pubitemid 34662284)
    • (2002) Genome Research , vol.12 , Issue.6 , pp. 909-915
    • Borstnik, B.1    Pumpernik, D.2
  • 29
  • 30
    • 52449094233 scopus 로고    scopus 로고
    • Short tandem repeats in human exons: A target for disease mutations
    • Madsen, B.E., Villesen, P. and Wiuf, C. (2008) Short tandem repeats in human exons: a target for disease mutations. BMC Genomics., 9, 410.
    • (2008) BMC Genomics , vol.9 , pp. 410
    • Madsen, B.E.1    Villesen, P.2    Wiuf, C.3
  • 31
    • 70350125551 scopus 로고    scopus 로고
    • Triplet repeat length bias and variation in the human transcriptome
    • Molla, M., Delcher, A., Sunyaev, S., Cantor, C. and Kasif, S. (2009) Triplet repeat length bias and variation in the human transcriptome. Proc. Natl Acad. Sci. USA, 106, 17095-17100.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 17095-17100
    • Molla, M.1    Delcher, A.2    Sunyaev, S.3    Cantor, C.4    Kasif, S.5
  • 32
    • 36949030790 scopus 로고    scopus 로고
    • Replication slippage versus point mutation rates in short tandem repeats of the human genome
    • DOI 10.1007/s00438-007-0294-1
    • Pumpernik, D., Oblak, B. and Borstnik, B. (2008) Replication slippage versus point mutation rates in short tandem repeats of the human genome. Mol. Genet. Genomics, 279, 53-61. (Pubitemid 350243861)
    • (2008) Molecular Genetics and Genomics , vol.279 , Issue.1 , pp. 53-61
    • Pumpernik, D.1    Oblak, B.2    Borstnik, B.3
  • 33
    • 0028176566 scopus 로고
    • Distribution of trinucleotide microsatellites in different categories of mammalian genomic sequence: Implications for human genetic diseases
    • DOI 10.1006/geno.1994.1232
    • Stallings, R.L. (1994) Distribution of trinucleotide microsatellites in different categories of mammalian genomic sequence: implications for human genetic diseases. Genomics, 21, 116-121. (Pubitemid 24157733)
    • (1994) Genomics , vol.21 , Issue.1 , pp. 116-121
    • Stallings, R.L.1
  • 34
    • 29344436029 scopus 로고    scopus 로고
    • Expansion of GAA trinucleotide repeats in mammals
    • DOI 10.1016/j.ygeno.2005.09.006, PII S0888754305002545
    • Clark, R.M., Bhaskar, S.S., Miyahara, M., Dalgliesh, G.L. and Bidichandani, S.I. (2006) Expansion of GAA trinucleotide repeats in mammals. Genomics, 87, 57-67. (Pubitemid 43005102)
    • (2006) Genomics , vol.87 , Issue.1 , pp. 57-67
    • Clark, R.M.1    Bhaskar, S.S.2    Miyahara, M.3    Dalgliesh, G.L.4    Bidichandani, S.I.5
  • 38
    • 4143125649 scopus 로고    scopus 로고
    • Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability
    • DOI 10.1002/humu.20075
    • Sobczak, K. and Krzyzosiak, W.J. (2004) Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Hum. Mutat., 24, 236-247. (Pubitemid 39095600)
    • (2004) Human Mutation , vol.24 , Issue.3 , pp. 236-247
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 39
    • 45849092558 scopus 로고    scopus 로고
    • Simple sequence repeats: Genetic modulators of brain function and behavior
    • Fondon, J.W. III, Hammock, E.A., Hannan, A.J. and King, D.G. (2008) Simple sequence repeats: genetic modulators of brain function and behavior. Trends Neurosci., 31, 328-334.
    • (2008) Trends Neurosci. , vol.31 , pp. 328-334
    • Iii, W.F.J.1    Hammock, E.A.2    Hannan, A.J.3    King, D.G.4
  • 41
    • 0027261456 scopus 로고
    • Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins
    • Richards, R.I., Holman, K., Yu, S. and Sutherland, G.R. (1993) Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. Hum. Mol. Genet., 2, 1429-1435. (Pubitemid 23271188)
    • (1993) Human Molecular Genetics , vol.2 , Issue.9 , pp. 1429-1435
    • Richards, R.I.1    Holman, K.2    Yu, S.3    Sutherland, G.R.4
  • 42
    • 0034667996 scopus 로고    scopus 로고
    • Expansion of the (CTG)(n) repeat in the 50-UTR of a reporter gene impedes translation
    • Raca, G., Siyanova, E.Y., McMurray, C.T. and Mirkin, S.M. (2000) Expansion of the (CTG)(n) repeat in the 50-UTR of a reporter gene impedes translation. Nucleic Acids Res., 28, 3943-3949.
    • (2000) Nucleic Acids Res. , vol.28 , pp. 3943-3949
    • Raca, G.1    Siyanova, E.Y.2    McMurray, C.T.3    Mirkin, S.M.4
  • 43
    • 2442701496 scopus 로고    scopus 로고
    • Microsatellites within genes: Structure, function, and evolution
    • DOI 10.1093/molbev/msh073
    • Li, Y.C., Korol, A.B., Fahima, T. and Nevo, E. (2004) Microsatellites within genes: structure, function, and evolution. Mol. Biol. Evol., 21, 991-1007. (Pubitemid 38658207)
    • (2004) Molecular Biology and Evolution , vol.21 , Issue.6 , pp. 991-1007
    • Li, Y.-C.1    Korol, A.B.2    Fahima, T.3    Nevo, E.4
  • 44
    • 0142009656 scopus 로고    scopus 로고
    • RNA structure of trinucleotide repeats associated with human neurological diseases
    • DOI 10.1093/nar/gkg766
    • Sobczak, K., de Mezer, M., Michlewski, G., Krol, J. and Krzyzosiak, W.J. (2003) RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res., 31, 5469-5482. (Pubitemid 37441917)
    • (2003) Nucleic Acids Research , vol.31 , Issue.19 , pp. 5469-5482
    • Sobczak, K.1    De Mezer, M.2    Michlewski, G.3    Krol, J.4    Krzyzosiak, W.J.5
  • 47
    • 66249108942 scopus 로고    scopus 로고
    • Structural studies of an RNA aptamer containing GGA repeats under ionic conditions using microchip electrophoresis, circular dichroism, and 1D-NMR
    • Nishikawa, F., Murakami, K., Matsugami, A., Katahira, M. and Nishikawa, S. (2009) Structural studies of an RNA aptamer containing GGA repeats under ionic conditions using microchip electrophoresis, circular dichroism, and 1D-NMR. Oligonucleotides, 19, 179-190.
    • (2009) Oligonucleotides , vol.19 , pp. 179-190
    • Nishikawa, F.1    Murakami, K.2    Matsugami, A.3    Katahira, M.4    Nishikawa, S.5
  • 48
    • 23844465175 scopus 로고    scopus 로고
    • Thermodynamic stability of RNA structures formed by CNG trinucleotide repeats. Implication for prediction of RNA structure
    • DOI 10.1021/bi0502339
    • Broda, M., Kierzek, E., Gdaniec, Z., Kulinski, T. and Kierzek, R. (2005) Thermodynamic stability of RNA structures formed by CNG trinucleotide repeats. Implication for prediction of RNA structure. Biochemistry, 44, 10873-10882. (Pubitemid 41153648)
    • (2005) Biochemistry , vol.44 , Issue.32 , pp. 10873-10882
    • Broda, M.1    Kierzek, E.2    Gdaniec, Z.3    Kulinski, T.4    Kierzek, R.5
  • 50
    • 4043172851 scopus 로고    scopus 로고
    • n is mediated by homolog-conserved domains in three members of the hnRNP family
    • DOI 10.1093/nar/gkh745
    • Khateb, S., Weisman-Shomer, P., Hershco, I., Loeb, L.A. and Fry, M. (2004) Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family. Nucleic Acids Res., 32, 4145-4154. (Pubitemid 39232287)
    • (2004) Nucleic Acids Research , vol.32 , Issue.14 , pp. 4145-4154
    • Khateb, S.1    Weisman-Shomer, P.2    Hershco, I.3    Loeb, L.A.4    Fry, M.5
  • 51
    • 65849117023 scopus 로고    scopus 로고
    • The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA
    • Ofer, N., Weisman-Shomer, P., Shklover, J. and Fry, M. (2009) The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA. Nucleic Acids Res., 37, 2712-2722.
    • (2009) Nucleic Acids Res. , vol.37 , pp. 2712-2722
    • Ofer, N.1    Weisman-Shomer, P.2    Shklover, J.3    Fry, M.4
  • 52
    • 36249002312 scopus 로고    scopus 로고
    • Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the Fragile X Mental Retardation 1 (FMR1) gene
    • Zumwalt, M., Ludwig, A., Hagerman, P.J. and Dieckmann, T. (2007) Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene. RNA Biol., 4, 93-100. (Pubitemid 350127833)
    • (2007) RNA Biology , vol.4 , Issue.2 , pp. 93-100
    • Zumwalt, M.1    Ludwig, A.2    Hagerman, P.J.3    Dieckmann, T.4
  • 53
    • 67651162116 scopus 로고    scopus 로고
    • Structural insights into CUG repeats containing the 'stretched U-U wobble': Implications for myotonic dystrophy
    • Kiliszek, A., Kierzek, R., Krzyzosiak, W.J. and Rypniewski, W. (2009) Structural insights into CUG repeats containing the 'stretched U-U wobble': implications for myotonic dystrophy. Nucleic Acids Res., 37, 4149-4156.
    • (2009) Nucleic Acids Res. , vol.37 , pp. 4149-4156
    • Kiliszek, A.1    Kierzek, R.2    Krzyzosiak, W.J.3    Rypniewski, W.4
  • 55
    • 78650483521 scopus 로고    scopus 로고
    • Atomic resolution structure of CAG RNA repeats: Structural insights and implications for the trinucleotide repeat expansion diseases
    • Kiliszek, A., Kierzek, R., Krzyzosiak, W.J. and Rypniewski, W. (2010) Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases. Nucleic Acids Res., 38, 8370-8376.
    • (2010) Nucleic Acids Res , vol.38 , pp. 8370-8376
    • Kiliszek, A.1    Kierzek, R.2    Krzyzosiak, W.J.3    Rypniewski, W.4
  • 56
    • 80052481911 scopus 로고    scopus 로고
    • Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome
    • doi:10.1093/nar/gkr1368; epub ahead of print; 19 May 2011
    • Kiliszek, A., Kierzek, R., Krzyzosiak, W.J. and Rypniewski, W. (2011) Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome. Nucleic Acids Res. (doi:10.1093/nar/gkr1368; epub ahead of print; 19 May 2011).
    • (2011) Nucleic Acids Res
    • Kiliszek, A.1    Kierzek, R.2    Krzyzosiak, W.J.3    Rypniewski, W.4
  • 57
    • 0030841672 scopus 로고    scopus 로고
    • Expansion of a CUG trinucleotide repeat in the 30 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
    • Davis, B.M., McCurrach, M.E., Taneja, K.L., Singer, R.H. and Housman, D.E. (1997) Expansion of a CUG trinucleotide repeat in the 30 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
  • 58
    • 0028947317 scopus 로고
    • Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
    • Taneja, K.L., McCurrach, M., Schalling, M., Housman, D. and Singer, R.H. (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol., 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
  • 59
    • 33947722883 scopus 로고    scopus 로고
    • Elevated FMR1 mRNA in premutation carriers is due to increased transcription
    • DOI 10.1261/rna.280807
    • Tassone, F., Beilina, A., Carosi, C., Albertosi, S., Bagni, C., Li, L., Glover, K., Bentley, D. and Hagerman, P.J. (2007) Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA, 13, 555-562. (Pubitemid 46506938)
    • (2007) RNA , vol.13 , Issue.4 , pp. 555-562
    • Tassone, F.1    Beilina, A.2    Carosi, C.3    Albertosi, S.4    Bagni, C.5    Li, L.6    Glover, K.7    Bentley, D.8    Hagerman, P.J.9
  • 60
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ ataxia syndrome (FXTAS)
    • Tassone, F., Iwahashi, C. and Hagerman, P.J. (2004) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ ataxia syndrome (FXTAS). RNA Biol., 1, 103-105.
    • (2004) RNA Biol. , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 61
    • 0041880131 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
    • DOI 10.1016/S0896-6273(03)00533-6
    • Jin, P., Zarnescu, D.C., Zhang, F., Pearson, C.E., Lucchesi, J.C., Moses, K. and Warren, S.T. (2003) RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron, 39, 739-747. (Pubitemid 37088087)
    • (2003) Neuron , vol.39 , Issue.5 , pp. 739-747
    • Jin, P.1    Zarnescu, D.C.2    Zhang, F.3    Pearson, C.E.4    Lucchesi, J.C.5    Moses, K.6    Warren, S.T.7
  • 62
    • 45749147456 scopus 로고    scopus 로고
    • RNA toxicity is a component of ataxin-3 degeneration in Drosophila
    • DOI 10.1038/nature06909, PII NATURE06909
    • Li, L.B., Yu, Z., Teng, X. and Bonini, N.M. (2008) RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature, 453, 1107-1111. (Pubitemid 351871727)
    • (2008) Nature , vol.453 , Issue.7198 , pp. 1107-1111
    • Li, L.-B.1    Yu, Z.2    Teng, X.3    Bonini, N.M.4
  • 64
    • 80455149647 scopus 로고    scopus 로고
    • Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia
    • doi:10.1093/nar/gkr1542; epub ahead of print; 10 July 2011
    • Kim, E., Napierala, M. and Dent, S.Y. (2011) Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucleic Acids Res. (doi:10.1093/nar/gkr1542; epub ahead of print; 10 July 2011).
    • (2011) Nucleic Acids Res.
    • Kim, E.1    Napierala, M.2    Dent, S.Y.3
  • 65
    • 79953006870 scopus 로고    scopus 로고
    • Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells
    • Kumari, D., Biacsi, R.E. and Usdin, K. (2011) Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. J. Biol. Chem., 286, 4209-4215.
    • (2011) J. Biol. Chem , vol.286 , pp. 4209-4215
    • Kumari, D.1    Biacsi, R.E.2    Usdin, K.3
  • 66
    • 77953659252 scopus 로고    scopus 로고
    • Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
    • Punga, T. and Buhler, M. (2010) Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. EMBO Mol. Med., 2, 120-129.
    • (2010) EMBO Mol. Med , vol.2 , pp. 120-129
    • Punga, T.1    Buhler, M.2
  • 68
    • 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
    • DOI 10.1093/hmg/ddh327
    • Jiang, H., Mankodi, A., Swanson, M.S., Moxley, R.T. and Thornton, C.A. (2004) 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., 13, 3079-3088. (Pubitemid 40045262)
    • (2004) Human Molecular Genetics , vol.13 , Issue.24 , pp. 3079-3088
    • Jiang, H.1    Mankodi, A.2    Swanson, M.S.3    Moxley, R.T.4    Thornton, C.A.5
  • 70
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • DOI 10.1038/nature05977, PII NATURE05977
    • Mirkin, S.M. (2007) Expandable DNA repeats and human disease. Nature, 447, 932-940. (Pubitemid 46975760)
    • (2007) Nature , vol.447 , Issue.7147 , pp. 932-940
    • Mirkin, S.M.1
  • 72
    • 0034110465 scopus 로고    scopus 로고
    • Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila
    • Marsh, J.L., Walker, H., Theisen, H., Zhu, Y.Z., Fielder, T., Purcell, J. and Thompson, L.M. (2000) Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila. Hum. Mol. Genet., 9, 13-25. (Pubitemid 30145284)
    • (2000) Human Molecular Genetics , vol.9 , Issue.1 , pp. 13-25
    • Marsh, J.L.1    Walker, H.2    Theisen, H.3    Zhu, Y.-Z.4    Fielder, T.5    Purcell, J.6    Thompson, L.M.7
  • 73
    • 79953745706 scopus 로고    scopus 로고
    • Repeat associated non-ATG translation initiation: One DNA, two transcripts, seven reading frames, potentially nine toxic entities!
    • Pearson, C.E. (2011) Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet., 7, e1002018.
    • (2011) PLoS Genet , vol.7
    • Pearson, C.E.1
  • 74
    • 77953887860 scopus 로고    scopus 로고
    • Partners in crime: Bidirectional transcription in unstable microsatellite disease
    • Batra, R., Charizanis, K. and Swanson, M.S. (2010) Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum. Mol. Genet., 19, R77-R82.
    • (2010) Hum. Mol. Genet , vol.19
    • Batra, R.1    Charizanis, K.2    Swanson, M.S.3
  • 75
    • 79955660764 scopus 로고    scopus 로고
    • An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice
    • Wilburn, B., Rudnicki, D.D., Zhao, J., Weitz, T.M., Cheng, Y., Gu, X., Greiner, E., Park, C.S., Wang, N., Sopher, B.L. et al. (2011) An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron, 70, 427-440.
    • (2011) Neuron , vol.70 , pp. 427-440
    • Wilburn, B.1    Rudnicki, D.D.2    Zhao, J.3    Weitz, T.M.4    Cheng, Y.5    Gu, X.6    Greiner, E.7    Park, C.S.8    Wang, N.9    Sopher, B.L.10
  • 76
    • 80051695536 scopus 로고    scopus 로고
    • A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression
    • Chung, D.W., Rudnicki, D.D., Yu, L. and Margolis, R.L. (2011) A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum. Mol. Genet., 20, 3467-3477.
    • (2011) Hum. Mol. Genet , vol.20 , pp. 3467-3477
    • Chung, D.W.1    Rudnicki, D.D.2    Yu, L.3    Margolis, R.L.4
  • 77
    • 79953762028 scopus 로고    scopus 로고
    • Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy
    • Yu, Z., Teng, X. and Bonini, N.M. (2011) Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. PLoS Genet., 7, e1001340.
    • (2011) PLoS Genet , vol.7
    • Yu, Z.1    Teng, X.2    Bonini, N.M.3
  • 79
    • 1842406027 scopus 로고    scopus 로고
    • CUG repeats present in myotonin kinase RNA form metastable 'slippery' hairpins
    • DOI 10.1074/jbc.272.49.31079
    • Napierala, M. and Krzyzosiak, W.J. (1997) CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins. J. Biol. Chem., 272, 31079-31085. (Pubitemid 27527556)
    • (1997) Journal of Biological Chemistry , vol.272 , Issue.49 , pp. 31079-31085
    • Napierala, M.1    Krzyzosiak, W.J.2
  • 81
    • 0024297759 scopus 로고
    • Characterization of the lead(II)-induced cleavages in tRNAs in solution and effect of the Y-base removal in yeast tRNAPhe
    • Krzyzosiak, W.J., Marciniec, T., Wiewiorowski, M., Romby, P., Ebel, J.P. and Giege, R. (1988) Characterization of the lead(II)-induced cleavages in tRNAs in solution and effect of the Y-base removal in yeast tRNAPhe. Biochemistry, 27, 5771-5777.
    • (1988) Biochemistry , vol.27 , pp. 5771-5777
    • Krzyzosiak, W.J.1    Marciniec, T.2    Wiewiorowski, M.3    Romby, P.4    Ebel, J.P.5    Giege, R.6
  • 82
  • 84
    • 4744366210 scopus 로고    scopus 로고
    • Imperfect CAG repeats form diverse structures in SCA1 transcripts
    • DOI 10.1074/jbc.M405130200
    • Sobczak, K. and Krzyzosiak, W.J. (2004) Imperfect CAG repeats form diverse structures in SCA1 transcripts. J. Biol. Chem., 279, 41563-41572. (Pubitemid 39313598)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.40 , pp. 41563-41572
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 85
    • 3042561985 scopus 로고    scopus 로고
    • Molecular architecture of CAG repeats in human disease related transcripts
    • DOI 10.1016/j.jmb.2004.05.021, PII S0022283604005868
    • Michlewski, G. and Krzyzosiak, W.J. (2004) Molecular architecture of CAG repeats in human disease related transcripts. J. Mol. Biol., 340, 665-679. (Pubitemid 38829630)
    • (2004) Journal of Molecular Biology , vol.340 , Issue.4 , pp. 665-679
    • Michlewski, G.1    Krzyzosiak, W.J.2
  • 86
    • 13744260562 scopus 로고    scopus 로고
    • Facile FMR1 mRNA structure regulation by interruptions in CGG repeats
    • DOI 10.1093/nar/gki186
    • Napierala, M., Michalowski, D., de Mezer, M. and Krzyzosiak, W.J. (2005) Facile FMR1 mRNA structure regulation by interruptions in CGG repeats. Nucleic Acids Res., 33, 451-463. (Pubitemid 40360975)
    • (2005) Nucleic Acids Research , vol.33 , Issue.2 , pp. 451-463
    • Napierala, M.1    Michalowski, D.2    De Mezer, M.3    Krzyzosiak, W.J.4
  • 87
    • 13544270270 scopus 로고    scopus 로고
    • CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts
    • DOI 10.1074/jbc.M409984200
    • Sobczak, K. and Krzyzosiak, W.J. (2005) CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J. Biol. Chem., 280, 3898-3910. (Pubitemid 40223859)
    • (2005) Journal of Biological Chemistry , vol.280 , Issue.5 , pp. 3898-3910
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 88
    • 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, W.J. (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
  • 89
    • 77955492563 scopus 로고    scopus 로고
    • Diverse endonucleolytic cleavage sites in the mammalian transcriptome depend upon microRNAs, Drosha, and additional nucleases
    • Karginov, F.V., Cheloufi, S., Chong, M.M., Stark, A., Smith, A.D. and Hannon, G.J. (2010) Diverse endonucleolytic cleavage sites in the mammalian transcriptome depend upon microRNAs, Drosha, and additional nucleases. Mol. Cell, 38, 781-788.
    • (2010) Mol. Cell , vol.38 , pp. 781-788
    • Karginov, F.V.1    Cheloufi, S.2    Chong, M.M.3    Stark, A.4    Smith, A.D.5    Hannon, G.J.6
  • 92
    • 0032562132 scopus 로고    scopus 로고
    • Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation
    • DOI 10.1021/bi972546c
    • Pearson, C.E., Eichler, E.E., Lorenzetti, D., Kramer, S.F., Zoghbi, H.Y., Nelson, D.L. and Sinden, R.R. (1998) Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry, 37, 2701-2708. (Pubitemid 28119348)
    • (1998) Biochemistry , vol.37 , Issue.8 , pp. 2701-2708
    • Pearson, C.E.1    Eichler, E.E.2    Lorenzetti, D.3    Kramer, S.F.4    Zoghbi, H.Y.5    Nelson, D.L.6    Sinden, R.R.7
  • 93
    • 1542299596 scopus 로고    scopus 로고
    • Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
    • DOI 10.1093/hmg/ddh056
    • Kino, Y., Mori, D., Oma, Y., Takeshita, Y., Sasagawa, N. and Ishiura, S. (2004) Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum. Mol. Genet., 13, 495-507. (Pubitemid 38313209)
    • (2004) Human Molecular Genetics , vol.13 , Issue.5 , pp. 495-507
    • Kino, Y.1    Daisuke, M.2    Oma, Y.3    Takeshita, Y.4    Sasagawa, N.5    Ishuira, S.6
  • 94
    • 34547681603 scopus 로고    scopus 로고
    • Pur α Binds to rCGG Repeats and Modulates Repeat-Mediated Neurodegeneration in a Drosophila Model of Fragile X Tremor/Ataxia Syndrome
    • DOI 10.1016/j.neuron.2007.07.020, PII S0896627307005417
    • Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T.C., Liu, H., Feng, Y. and Warren, S.T. (2007) Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron, 55, 556-564. (Pubitemid 47223639)
    • (2007) Neuron , vol.55 , Issue.4 , pp. 556-564
    • Jin, P.1    Duan, R.2    Qurashi, A.3    Qin, Y.4    Tian, D.5    Rosser, T.C.6    Liu, H.7    Feng, Y.8    Warren, S.T.9
  • 96
  • 98
    • 0033198739 scopus 로고    scopus 로고
    • Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
    • DOI 10.1093/nar/27.17.3534
    • Michalowski, S., Miller, J.W., Urbinati, C.R., Paliouras, M., Swanson, M.S. and Griffith, J. (1999) Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res., 27, 3534-3542. (Pubitemid 29414682)
    • (1999) Nucleic Acids Research , vol.27 , Issue.17 , pp. 3534-3542
    • Michalowski, S.1    Miller, J.W.2    Urbinati, C.R.3    Paliouras, M.4    Swanson, M.S.5    Griffith, J.6
  • 99
    • 0035394801 scopus 로고    scopus 로고
    • In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
    • Fardaei, M., Larkin, K., Brook, J.D. and Hamshere, M.G. (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res., 29, 2766-2771. (Pubitemid 32685039)
    • (2001) Nucleic Acids Research , vol.29 , Issue.13 , pp. 2766-2771
    • Fardaei, M.1    Larkin, K.2    Brook, J.D.3    Hamshere, M.G.4
  • 101
    • 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. and Meola, G. (2006) Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2. Eur. J. Histochem., 50, 177-182. (Pubitemid 351480071)
    • (2006) European Journal of Histochemistry , vol.50 , Issue.3 , pp. 177-182
    • Cardani, R.1    Mancinelli, E.2    Rotondo, G.3    Sansone, V.4    Meola, G.5
  • 104
    • 23744450059 scopus 로고    scopus 로고
    • Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy
    • DOI 10.1242/jcs.02404
    • Ho, T.H., Savkur, R.S., Poulos, M.G., Mancini, M.A., Swanson, M.S. and Cooper, T.A. (2005) Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J. Cell Sci., 118, 2923-2933. (Pubitemid 41136369)
    • (2005) Journal of Cell Science , vol.118 , Issue.13 , pp. 2923-2933
    • Ho, T.H.1    Savkur, R.S.2    Poulos, M.G.3    Mancini, M.A.4    Swanson, M.S.5    Cooper, T.A.6
  • 105
    • 0033983537 scopus 로고    scopus 로고
    • Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
    • DOI 10.1017/S1355838200991544
    • Tian, B., White, R.J., Xia, T., Welle, S., Turner, D.H., Mathews, M.B. and Thornton, C.A. (2000) Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA, 6, 79-87. (Pubitemid 30069038)
    • (2000) RNA , vol.6 , Issue.1 , pp. 79-87
    • Tian, B.1    White, R.J.2    Xia, T.3    Welle, S.4    Turner, D.H.5    Mathews, M.B.6    Thornton, C.A.7
  • 106
    • 0035878553 scopus 로고    scopus 로고
    • Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's diseases (HD) transcripts and is activated in HD tissue
    • Peel, A.L., Rao, R.V., Cottrell, B.A., Hayden, M.R., Ellerby, L.M. and Bredesen, D.E. (2001) Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum. Mol. Genet., 10, 1531-1538. (Pubitemid 32734304)
    • (2001) Human Molecular Genetics , vol.10 , Issue.15 , pp. 1531-1538
    • Peel, A.L.1    Rao, R.V.2    Cottrell, B.A.3    Hayden, M.R.4    Ellerby, L.M.5    Bredesen, D.E.6
  • 107
    • 57149097433 scopus 로고    scopus 로고
    • Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1
    • Teplova, M. and Patel, D.J. (2008) Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1. Nat. Struct. Mol. Biol., 15, 1343-1351.
    • (2008) Nat. Struct. Mol. Biol. , vol.15 , pp. 1343-1351
    • Teplova, M.1    Patel, D.J.2
  • 110
    • 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
    • DOI 10.1016/j.neuron.2007.07.021, PII S0896627307005429
    • Sofola, O.A., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D.L. and Botas, J. (2007) RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron, 55, 565-571. (Pubitemid 47223640)
    • (2007) Neuron , vol.55 , Issue.4 , pp. 565-571
    • Sofola, O.A.1    Jin, P.2    Qin, Y.3    Duan, R.4    Liu, H.5    De Haro, M.6    Nelson, D.L.7    Botas, J.8
  • 111
    • 80052716635 scopus 로고    scopus 로고
    • Cellular toxicity of expanded RNA repeats: Focus on RNA foci
    • doi: 10.1093/hmg/ddr1299; epub ahead of print; 16 July 2011
    • Wojciechowska, M. and Krzyzosiak, W.J. (2011) Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum. Mol. Genet. (doi: 10.1093/hmg/ddr1299; epub ahead of print; 16 July 2011).
    • (2011) Hum. Mol. Genet.
    • Wojciechowska, M.1    Krzyzosiak, W.J.2
  • 112
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • DOI 10.1038/ng704
    • Savkur, R.S., Philips, A.V. and Cooper, T.A. (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet., 29, 40-47. (Pubitemid 32801806)
    • (2001) Nature Genetics , vol.29 , Issue.1 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 113
    • 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
    • DOI 10.1016/S1097-2765(02)00563-4
    • Mankodi, A., Takahashi, M.P., Jiang, H., Beck, C.L., Bowers, W.J., Moxley, R.T., Cannon, S.C. and Thornton, C.A. (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. (Pubitemid 34879147)
    • (2002) Molecular Cell , vol.10 , Issue.1 , 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    Cannon, S.C.7    Thornton, C.A.8
  • 114
    • 79956209642 scopus 로고    scopus 로고
    • Alternative splicing of PDLIM3/ALP, for alpha-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy
    • Ohsawa, N., Koebis, M., Suo, S., Nishino, I. and Ishiura, S. (2011) Alternative splicing of PDLIM3/ALP, for alpha-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. Biochem. Biophys. Res. Commun., 409, 64-69.
    • (2011) Biochem. Biophys. Res. Commun , vol.409 , pp. 64-69
    • Ohsawa, N.1    Koebis, M.2    Suo, S.3    Nishino, I.4    Ishiura, S.5
  • 115
    • 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
    • DOI 10.1006/mgme.2001.3229
    • Frisch, R., Singleton, K.R., Moses, P.A., Gonzalez, I.L., Carango, P., Marks, H.G. and Funanage, V.L. (2001) Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Mol. Genet. Metab., 74, 281-291. (Pubitemid 32955169)
    • (2001) Molecular Genetics and Metabolism , vol.74 , Issue.1-2 , pp. 281-291
    • Frisch, R.1    Singleton, K.R.2    Moses, P.A.3    Gonzalez, I.L.4    Carango, P.5    Marks, H.G.6    Funanage, V.L.7
  • 118
    • 33845915511 scopus 로고    scopus 로고
    • Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy
    • DOI 10.1085/jgp.200609635
    • Lueck, J.D., Mankodi, A., Swanson, M.S., Thornton, C.A. and Dirksen, R.T. (2007) Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. J. Gen. Physiol., 129, 79-94. (Pubitemid 46036510)
    • (2007) Journal of General Physiology , vol.129 , Issue.1 , pp. 79-94
    • Lueck, J.D.1    Mankodi, A.2    Swanson, M.S.3    Thornton, C.A.4    Dirksen, R.T.5
  • 119
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • DOI 10.1016/S1097-2765(02)00572-5
    • Charlet, B.N., Savkur, R.S., Singh, G., Philips, A.V., Grice, E.A. and Cooper, T.A. (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell, 10, 45-53. (Pubitemid 34879148)
    • (2002) Molecular Cell , vol.10 , Issue.1 , 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
  • 120
    • 36849035575 scopus 로고    scopus 로고
    • Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
    • DOI 10.1172/JCI33355
    • Wheeler, T.M., Lueck, J.D., Swanson, M.S., Dirksen, R.T. and Thornton, C.A. (2007) Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J. Clin. Invest., 117, 3952-3957. (Pubitemid 350224104)
    • (2007) Journal of Clinical Investigation , vol.117 , Issue.12 , pp. 3952-3957
    • Wheeler, T.M.1    Lueck, J.D.2    Swanson, M.S.3    Dirksen, R.T.4    Thornton, C.A.5
  • 123
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • DOI 10.1126/science.280.5364.737
    • Philips, A.V., Timchenko, L.T. and Cooper, T.A. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741. (Pubitemid 28243348)
    • (1998) Science , vol.280 , Issue.5364 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 124
    • 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
    • DOI 10.1261/rna.610607
    • Warf, M.B. and Berglund, J.A. (2007) MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA, 13, 2238-2251. (Pubitemid 350127564)
    • (2007) RNA , vol.13 , Issue.12 , pp. 2238-2251
    • Warf, M.B.1    Berglund, J.A.2
  • 125
    • 67249165478 scopus 로고    scopus 로고
    • The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing
    • Warf, M.B., Diegel, J.V., von Hippel, P.H. and Berglund, J.A. (2009) The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing. Proc. Natl Acad. Sci. USA, 106, 9203-9208.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 9203-9208
    • Warf, M.B.1    Diegel, J.V.2    Von Hippel, P.H.3    Berglund, J.A.4
  • 127
    • 77956108781 scopus 로고    scopus 로고
    • CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1
    • Ward, A.J., Rimer, M., Killian, J.M., Dowling, J.J. and Cooper, T.A. (2010) CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum. Mol. Genet., 19, 3614-3622.
    • (2010) Hum. Mol. Genet , vol.19 , pp. 3614-3622
    • Ward, A.J.1    Rimer, M.2    Killian, J.M.3    Dowling, J.J.4    Cooper, T.A.5
  • 128
    • 33750559154 scopus 로고    scopus 로고
    • Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts
    • DOI 10.1007/s00439-006-0228-8
    • Machuca-Tzili, L., Thorpe, H., Robinson, T.E., Sewry, C. and Brook, J.D. (2006) Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. Hum. Genet., 120, 487-499. (Pubitemid 44669783)
    • (2006) Human Genetics , vol.120 , Issue.4 , pp. 487-499
    • MacHuca-Tzili, L.1    Thorpe, H.2    Robinson, T.E.3    Sewry, C.4    Brook, J.D.5
  • 130
    • 1842529234 scopus 로고    scopus 로고
    • Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis
    • DOI 10.1074/jbc.M312923200
    • Timchenko, N.A., Patel, R., Iakova, P., Cai, Z.J., Quan, L. and Timchenko, L.T. (2004) Overexpression of CUG triplet repeat-binding protein, CUGBP1, in mice inhibits myogenesis. J. Biol. Chem., 279, 13129-13139. (Pubitemid 38445891)
    • (2004) Journal of Biological Chemistry , vol.279 , Issue.13 , pp. 13129-13139
    • Timchenko, N.A.1    Patel, R.2    Iakova, P.3    Cai, Z.-J.4    Quan, L.5    Timchenko, L.T.6
  • 131
    • 77950658740 scopus 로고    scopus 로고
    • Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1
    • Koshelev, M., Sarma, S., Price, R.E., Wehrens, X.H. and Cooper, T.A. (2010) Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Hum. Mol. Genet., 19, 1066-1075.
    • (2010) Hum. Mol. Genet , vol.19 , pp. 1066-1075
    • Koshelev, M.1    Sarma, S.2    Price, R.E.3    Wehrens, X.H.4    Cooper, T.A.5
  • 132
    • 79960083616 scopus 로고    scopus 로고
    • CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders
    • Wojciechowska, M. and Krzyzosiak, W.J. (2011) CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders. RNA Biol., 8, 565-571.
    • (2011) RNA Biol , vol.8 , pp. 565-571
    • Wojciechowska, M.1    Krzyzosiak, W.J.2
  • 133
  • 134
    • 0037081772 scopus 로고    scopus 로고
    • Rescue of polyglutamine-mediated cytotoxicity by doulble-stranded RNA-mediated RNA interference
    • Caplen, N.J., Taylor, J.P., Statham, V.S., Tanaka, F., Fire, A. and Morgan, R.A. (2002) Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. Hum. Mol. Genet., 11, 175-184. (Pubitemid 34157009)
    • (2002) Human Molecular Genetics , vol.11 , Issue.2 , pp. 175-184
    • Caplen, N.J.1    Taylor, J.P.2    Statham, V.S.3    Tanaka, F.4    Fire, A.5    Morgan, R.A.6
  • 137
    • 80052250736 scopus 로고    scopus 로고
    • Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats
    • Fiszer, A., Mykowska, A. and Krzyzosiak, W.J. (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
  • 139
    • 33847077134 scopus 로고    scopus 로고
    • Ribonuclease Dicer Cleaves Triplet Repeat Hairpins into Shorter Repeats that Silence Specific Targets
    • DOI 10.1016/j.molcel.2007.01.031, PII S1097276507000548
    • Krol, J., Fiszer, A., Mykowska, A., Sobczak, K., de Mezer, M. and Krzyzosiak, W.J. (2007) Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol. Cell, 25, 575-586. (Pubitemid 46274449)
    • (2007) Molecular Cell , vol.25 , Issue.4 , pp. 575-586
    • Krol, J.1    Fiszer, A.2    Mykowska, A.3    Sobczak, K.4    De Mezer, M.5    Krzyzosiak, W.J.6
  • 140
    • 0038103702 scopus 로고    scopus 로고
    • Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions
    • DOI 10.1038/sj.gt.3301955
    • Furling, D., Doucet, G., Langlois, M.A., Timchenko, L., Belanger, E., Cossette, L. and Puymirat, J. (2003) Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. Gene Ther., 10, 795-802. (Pubitemid 36621824)
    • (2003) Gene Therapy , vol.10 , Issue.9 , pp. 795-802
    • Furling, D.1    Doucet, G.2    Langlois, M.-A.3    Timchenko, L.4    Belanger, E.5    Cossette, L.6    Puymirat, J.7
  • 144
    • 78649359013 scopus 로고    scopus 로고
    • Allele-selective inhibition of huntingtin expression by switching to an miRNA-like RNAi mechanism
    • Hu, J., Liu, J. and Corey, D.R. (2010) Allele-selective inhibition of
    • (2010) Chem. Biol , vol.17 , pp. 1183-1188
    • Hu, J.1    Liu, J.2    Corey, D.R.3
  • 147
  • 148
    • 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, P.C., Sobczak, K., McNaughton, B.R., Palde, P.B., Thornton, C.A. and Miller, B.L. (2008) 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., 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    Miller, B.L.6
  • 149
    • 70349493012 scopus 로고    scopus 로고
    • A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding
    • Arambula, J.F., Ramisetty, S.R., Baranger, A.M. and Zimmerman, S.C. (2009) A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding. Proc. Natl Acad. Sci. USA, 106, 16068-16073.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 16068-16073
    • Arambula, J.F.1    Ramisetty, S.R.2    Baranger, A.M.3    Zimmerman, S.C.4
  • 150
    • 72249122539 scopus 로고    scopus 로고
    • Controlling the specificity of modularly assembled small molecules for RNA via ligand module spacing: Targeting the RNAs that cause myotonic muscular dystrophy
    • Lee, M.M., Childs-Disney, J.L., Pushechnikov, A., French, J.M., Sobczak, K., Thornton, C.A. and Disney, M.D. (2009) Controlling the specificity of modularly assembled small molecules for RNA via ligand module spacing: targeting the RNAs that cause myotonic muscular dystrophy. J. Am. Chem. Soc., 131, 17464-17472.
    • (2009) J. Am. Chem. Soc. , vol.131 , pp. 17464-17472
    • Lee, M.M.1    Childs-Disney, J.L.2    Pushechnikov, A.3    French, J.M.4    Sobczak, K.5    Thornton, C.A.6    Disney, M.D.7
  • 151
    • 76649144805 scopus 로고    scopus 로고
    • The role of flexibility in the rational design of modularly assembled ligands targeting the RNAs that cause the myotonic dystrophies
    • Disney, M.D., Lee, M.M., Pushechnikov, A. and Childs-Disney, J.L. (2010) The role of flexibility in the rational design of modularly assembled ligands targeting the RNAs that cause the myotonic dystrophies. Chembiochem, 11, 375-382.
    • (2010) Chembiochem , vol.11 , pp. 375-382
    • Disney, M.D.1    Lee, M.M.2    Pushechnikov, A.3    Childs-Disney, J.L.4
  • 153
    • 79961062490 scopus 로고    scopus 로고
    • In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models
    • Garcia-Lopez, A., Llamusi, B., Orzaez, M., Perez-Paya, E. and Artero, R.D. (2011) In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models. Proc. Natl Acad. Sci. USA, 108, 11866-11871.
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 11866-11871
    • Garcia-Lopez, A.1    Llamusi, B.2    Orzaez, M.3    Perez-Paya, E.4    Artero, R.D.5
  • 154
    • 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, M.M., Childs-Disney, J.L., Sobczak, K., French, J.M., Thornton, C.A. and Disney, M.D. (2009) 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., 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    Thornton, C.A.6    Disney, M.D.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.