메뉴 건너뛰기




Volumn 393, Issue 11, 2012, Pages 1299-1315

Triplet repeats in transcripts: Structural insights into RNA toxicity

Author keywords

CAG repeats; Fragile X associated tremor ataxia; Huntington's disease; Myotonic dystrophy type 1; RNA pathogenesis; Spinocerebellar ataxia

Indexed keywords

MESSENGER RNA; MICRORNA; RNA; TRANSCRIPTOME;

EID: 84869428758     PISSN: 14316730     EISSN: 14374315     Source Type: Journal    
DOI: 10.1515/hsz-2012-0218     Document Type: Review
Times cited : (60)

References (101)
  • 1
    • 0032837677 scopus 로고    scopus 로고
    • Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model
    • Amack, J.D., Paguio, A.P., and Mahadevan, M.S. (1999). Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum. Mol. Genet. 8, 1975-1984.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1975-1984
    • Amack, J.D.1    Paguio, A.P.2    Mahadevan, M.S.3
  • 3
    • 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
  • 4
    • 0036072745 scopus 로고    scopus 로고
    • Tandem repeats in protein coding regions of primate genes
    • Borstnik, B. and Pumpernik, D. (2002). Tandem repeats in protein coding regions of primate genes. Genome Res. 12, 909-915.
    • (2002) Genome Res. , vol.12 , pp. 909-915
    • Borstnik, B.1    Pumpernik, D.2
  • 5
    • 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, 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 3 ' end of a transcript encoding a protein kinase family member. Cell 69, 385.
    • (1992) Cell , vol.69 , pp. 385
    • 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
  • 7
    • 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.
    • (2006) Eur. J. Histochem. , vol.50 , pp. 177-182
    • Cardani, R.1    Mancinelli, E.2    Rotondo, G.3    Sansone, V.4    Meola, G.5
  • 8
    • 79955674895 scopus 로고    scopus 로고
    • The four Zn fingers of MBNL1 provide a flexible platform for recognition of its RNA binding elements
    • Cass, D., Hotchko, R., Barber, P., Jones, K., Gates, D.P., and Berglund, J.A. (2011). The four Zn fingers of MBNL1 provide a flexible platform for recognition of its RNA binding elements. BMC Mol. Biol. 12, 20.
    • (2011) BMC Mol. Biol. , vol.12 , pp. 20
    • Cass, D.1    Hotchko, R.2    Barber, P.3    Jones, K.4    Gates, D.P.5    Berglund, J.A.6
  • 9
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • 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.
    • (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
  • 10
    • 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
  • 11
    • 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
  • 14
    • 3042782819 scopus 로고    scopus 로고
    • Microsatellites: Simple sequences with complex evolution
    • Ellegren, H. (2004). Microsatellites: simple sequences with complex evolution. Nat. Rev. Genet. 5, 435-445.
    • (2004) Nat. Rev. Genet. , vol.5 , pp. 435-445
    • Ellegren, H.1
  • 15
    • 0037102613 scopus 로고    scopus 로고
    • Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast
    • Fabre, E., Dujon, B., and Richard, G.F. (2002). Transcription and nuclear transport of CAG/CTG trinucleotide repeats in yeast. Nucleic Acids Res. 30, 3540-3547.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 3540-3547
    • Fabre, E.1    Dujon, B.2    Richard, G.F.3
  • 16
    • 0035394801 scopus 로고    scopus 로고
    • In vivo co-localisation of MBNL protein with DMPK expandedrepeat transcripts
    • Fardaei, M., Larkin, K., Brook, J.D., and Hamshere, M.G. (2001). In vivo co-localisation of MBNL protein with DMPK expandedrepeat transcripts. Nucleic Acids Res. 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
  • 17
    • 84155178069 scopus 로고    scopus 로고
    • MBNL1-RNA recognition: Contributions of MBNL1 sequence and RNA conformation
    • Fu, Y., Ramisetty, S.R., Hussain, N., and Baranger, A.M. (2012). MBNL1-RNA recognition: contributions of MBNL1 sequence and RNA conformation. Chembiochem 13, 112-119.
    • (2012) Chembiochem , vol.13 , pp. 112-119
    • Fu, Y.1    Ramisetty, S.R.2    Hussain, N.3    Baranger, A.M.4
  • 19
    • 0034684980 scopus 로고    scopus 로고
    • AUUUA sequences compromise human insulin-like growth factor binding protein-1 mRNA stability
    • Gay, E. and Babajko, S. (2000). AUUUA sequences compromise human insulin-like growth factor binding protein-1 mRNA stability. Biochem Biophys. Res. Commun. 267, 509-515.
    • (2000) Biochem Biophys. Res. Commun. , vol.267 , pp. 509-515
    • Gay, E.1    Babajko, S.2
  • 20
    • 77952306763 scopus 로고    scopus 로고
    • MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing
    • Goers, E.S., Purcell, J., Voelker, R.B., Gates, D.P., and Berglund, J.A. (2010). MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing. Nucleic Acids Res. 38, 2467-2484.
    • (2010) Nucleic Acids Res. , vol.38 , pp. 2467-2484
    • Goers, E.S.1    Purcell, J.2    Voelker, R.B.3    Gates, D.P.4    Berglund, J.A.5
  • 21
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: A maturing perspective
    • Hagerman, P.J. and Hagerman, R.J. (2004). The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet. 74, 805-816.
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 22
    • 0344442391 scopus 로고    scopus 로고
    • The fragile X syndrome repeats form RNA hairpins that do not activate the interferoninducible protein kinase, PKR, but are cut by Dicer
    • Handa, V., Saha, T., and Usdin, K. (2003). The fragile X syndrome repeats form RNA hairpins that do not activate the interferoninducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res. 31, 6243-6248.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 6243-6248
    • Handa, V.1    Saha, T.2    Usdin, K.3
  • 23
    • 23744450059 scopus 로고    scopus 로고
    • Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy
    • 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.
    • (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    Cooper, T.A.6
  • 26
    • 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, G.S., Brook, J.D., and Morris, G.E. (2007). Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. Genes Cells 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    Morris, G.E.6
  • 27
    • 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
  • 29
    • 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, 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.
    • (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
  • 30
    • 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., 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.
    • (2007) Neuron , vol.55 , 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
  • 31
    • 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
  • 32
    • 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
  • 33
    • 80052481911 scopus 로고    scopus 로고
    • Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome
    • 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. 39, 7308-7315.
    • (2011) Nucleic Acids Res. , vol.39 , pp. 7308-7315
    • Kiliszek, A.1    Kierzek, R.2    Krzyzosiak, W.J.3    Rypniewski, W.4
  • 34
    • 22444446047 scopus 로고    scopus 로고
    • HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence
    • Kim, D.H., Langlois, M.A., Lee, K.B., Riggs, A.D., Puymirat, J., and Rossi, J.J. (2005). HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res. 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    Rossi, J.J.6
  • 37
    • 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., and Krzyzosiak, W.J. (2007). Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific 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
  • 38
    • 84882520051 scopus 로고    scopus 로고
    • Structural characteristics of trinucleotide repeats in transcripts
    • 2nd edition, Wells, R.D. and Ashizawa, T., eds. (Burlington, MA, USA: Academic Press
    • Krzyzosiak, W.J., Sobczak, K., and Napierala, M. (2006). Structural characteristics of trinucleotide repeats in transcripts. In: Genetic Instabilities and Neurological Diseases, 2nd edition, Wells, R.D. and Ashizawa, T., eds. (Burlington, MA, USA: Academic Press), pp. 705-713.
    • (2006) Genetic Instabilities and Neurological Diseases , pp. 705-713
    • Krzyzosiak, W.J.1    Sobczak, K.2    Napierala, M.3
  • 40
    • 80755156277 scopus 로고    scopus 로고
    • Myotonic dystrophy type 1 RNA crystal structures reveal heterogeneous 1 x 1 nucleotide UU internal loop conformations
    • Kumar, A., Park, H., Fang, P., Parkesh, R., Guo, M., Nettles, K.W., and Disney, M.D. (2011). Myotonic dystrophy type 1 RNA crystal structures reveal heterogeneous 1 x 1 nucleotide UU internal loop conformations. Biochemistry 50, 9928-9935.
    • (2011) Biochemistry , vol.50 , pp. 9928-9935
    • Kumar, A.1    Park, H.2    Fang, P.3    Parkesh, R.4    Guo, M.5    Nettles, K.W.6    Disney, M.D.7
  • 41
    • 34948834723 scopus 로고    scopus 로고
    • Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation
    • Kuyumcu-Martinez, N.M., Wang, G.S., and Cooper, T.A. (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
  • 42
    • 84860179725 scopus 로고    scopus 로고
    • New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats
    • Laurent, F.X., Sureau, A., Klein, A.F., Trouslard, F., Gasnier, E., Furling, D., and Marie, J. (2012). New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats. Nucleic Acids Res. 40, 3159-3171.
    • (2012) Nucleic Acids Res. , vol.40 , pp. 3159-3171
    • Laurent, F.X.1    Sureau, A.2    Klein, A.F.3    Trouslard, F.4    Gasnier, E.5    Furling, D.6    Marie, J.7
  • 44
    • 45749147456 scopus 로고    scopus 로고
    • RNA toxicity is a component of ataxin-3 degeneration in Drosophila
    • 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.
    • (2008) Nature , vol.453 , pp. 1107-1111
    • Li, L.B.1    Yu, Z.2    Teng, X.3    Bonini, N.M.4
  • 45
    • 27844468128 scopus 로고    scopus 로고
    • Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases
    • Malinina, L. (2005). Possible involvement of the RNAi pathway in trinucleotide repeat expansion diseases. J Biomol. Struct. Dyn. 23, 233-235.
    • (2005) J Biomol. Struct. Dyn. , vol.23 , pp. 233-235
    • Malinina, L.1
  • 48
    • 24644443227 scopus 로고    scopus 로고
    • The functional genomics of noncoding RNA
    • Mattick, J.S. (2005). The functional genomics of noncoding RNA. Science 309, 1527-1528.
    • (2005) Science , vol.309 , pp. 1527-1528
    • Mattick, J.S.1
  • 49
    • 0033198739 scopus 로고    scopus 로고
    • Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
    • 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.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 3534-3542
    • Michalowski, S.1    Miller, J.W.2    Urbinati, C.R.3    Paliouras, M.4    Swanson, M.S.5    Griffith, J.6
  • 50
    • 3042561985 scopus 로고    scopus 로고
    • Molecular architecture of CAG repeats in human disease related transcripts
    • Michlewski, G. and Krzyzosiak, W.J. (2004). Molecular architecture of CAG repeats in human disease related transcripts. J Mol. Biol. 340, 665-679.
    • (2004) J Mol. Biol. , vol.340 , pp. 665-679
    • Michlewski, G.1    Krzyzosiak, W.J.2
  • 52
    • 28044432118 scopus 로고    scopus 로고
    • The structural basis of myotonic dystrophy from the crystal structure of CUG repeats
    • Mooers, B.H., Logue, J.S., and Berglund, J.A. (2005). The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proc. Natl. Acad. Sci. USA 102, 16626-16631.
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 16626-16631
    • Mooers, B.H.1    Logue, J.S.2    Berglund, J.A.3
  • 53
    • 80052598182 scopus 로고    scopus 로고
    • Spatial code recognition in neuronal RNA targeting: Role of RNA-hnRNP A2 interactions
    • Muslimov, I.A., Patel, M.V., Rose, A., and Tiedge, H. (2011). Spatial code recognition in neuronal RNA targeting: role of RNA-hnRNP A2 interactions. J. Cell Biol. 194, 441-457.
    • (2011) J. Cell Biol. , vol.194 , pp. 441-457
    • Muslimov, I.A.1    Patel, M.V.2    Rose, A.3    Tiedge, H.4
  • 55
    • 1842406027 scopus 로고    scopus 로고
    • CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins
    • Napierala, M. and Krzyzosiak, W.J. (1997). CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins. J. Biol. Chem. 272, 31079-31085.
    • (1997) J. Biol. Chem. , vol.272 , pp. 31079-31085
    • Napierala, M.1    Krzyzosiak, W.J.2
  • 57
    • 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
  • 58
    • 75649089283 scopus 로고    scopus 로고
    • Sequencenon-specific effects of RNA interference triggers and microRNA regulators
    • Olejniczak, M., Galka, P., and Krzyzosiak, W.J. (2010). Sequencenon-specific effects of RNA interference triggers and microRNA regulators. Nucleic Acids Res. 38, 1-16.
    • (2010) Nucleic Acids Res. , vol.38 , pp. 1-16
    • Olejniczak, M.1    Galka, P.2    Krzyzosiak, W.J.3
  • 59
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr, H.T. and Zoghbi, H.Y. (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
  • 60
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • 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.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timchenko, L.T.2    Cooper, T.A.3
  • 61
    • 84860483495 scopus 로고    scopus 로고
    • Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice
    • Pouladi, M.A., Stanek, L.M., Xie, Y., Franciosi, S., Southwell, A.L., Deng, Y., Butland, S., Zhang, W., Cheng, S.H., Shihabuddin, L.S., et al. (2012). Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice. Hum. Mol. Genet. 21, 2219-2232.
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 2219-2232
    • Pouladi, M.A.1    Stanek, L.M.2    Xie, Y.3    Franciosi, S.4    Southwell, A.L.5    Deng, Y.6    Butland, S.7    Zhang, W.8    Cheng, S.H.9    Shihabuddin, L.S.10
  • 62
    • 79959845010 scopus 로고    scopus 로고
    • Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats
    • Qurashi, A., Li, W., Zhou, J.Y., Peng, J., and Jin, P. (2011). Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet 7, e1002102.
    • (2011) PLoS Genet , vol.7
    • Qurashi, A.1    Li, W.2    Zhou, J.Y.3    Peng, J.4    Jin, P.5
  • 63
    • 0034667996 scopus 로고    scopus 로고
    • Expansion of the (CTG)(n) repeat in the 5′-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 5′-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
  • 64
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum, L.P. and Cooper, T.A. (2006). RNA-mediated neuromuscular disorders. Annu. Rev. Neurosci. 29, 259-277.
    • (2006) Annu. Rev. Neurosci. , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 67
    • 84856341002 scopus 로고    scopus 로고
    • Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts
    • Rhodes, J.D., Lott, M.C., Russell, S.L., Moulton, V., Sanderson, J., Wormstone, I.M., and Broadway, D.C. (2012). Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. Hum. Mol. Genet. 21, 852-862.
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 852-862
    • Rhodes, J.D.1    Lott, M.C.2    Russell, S.L.3    Moulton, V.4    Sanderson, J.5    Wormstone, I.M.6    Broadway, D.C.7
  • 68
    • 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.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1429-1435
    • Richards, R.I.1    Holman, K.2    Yu, S.3    Sutherland, G.R.4
  • 71
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • 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.
    • (2001) Nat. Genet. , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 73
    • 81855206492 scopus 로고    scopus 로고
    • Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila
    • Shieh, S.Y. and Bonini, N.M. (2011). Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila. Hum. Mol. Genet. 20, 4810-4821.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 4810-4821
    • Shieh, S.Y.1    Bonini, N.M.2
  • 74
    • 34548842522 scopus 로고    scopus 로고
    • Defining early steps in mRNA transport: Mutant mRNA in myotonic dystrophy type i is blocked at entry into SC-35 domains
    • Smith, K.P., Byron, M., Johnson, C., Xing, Y., and Lawrence, J.B. (2007). Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains. J. Cell Biol. 178, 951-964.
    • (2007) J. Cell Biol. , vol.178 , pp. 951-964
    • Smith, K.P.1    Byron, M.2    Johnson, C.3    Xing, Y.4    Lawrence, J.B.5
  • 75
    • 0142009656 scopus 로고    scopus 로고
    • RNA structure of trinucleotide repeats associated with human neurological diseases
    • 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.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 5469-5482
    • Sobczak, K.1    De Mezer, M.2    Michlewski, G.3    Krol, J.4    Krzyzosiak, W.J.5
  • 76
    • 4744366210 scopus 로고    scopus 로고
    • Imperfect CAG repeats form diverse structures in SCA1 transcripts
    • Sobczak, K. and Krzyzosiak, W.J. (2004a). Imperfect CAG repeats form diverse structures in SCA1 transcripts. J. Biol. Chem. 279, 41563-41572.
    • (2004) J. Biol. Chem. , vol.279 , pp. 41563-41572
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 77
    • 4143125649 scopus 로고    scopus 로고
    • Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability
    • Sobczak, K. and Krzyzosiak, W.J. (2004b). Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Hum. Mutat. 24, 236-247.
    • (2004) Hum. Mutat. , vol.24 , pp. 236-247
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 78
    • 13544270270 scopus 로고    scopus 로고
    • CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts
    • 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.
    • (2005) J. Biol. Chem. , vol.280 , pp. 3898-3910
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 80
    • 34548724996 scopus 로고    scopus 로고
    • Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat
    • Sofola, O.A., Jin, P., Botas, J., and Nelson, D.L. (2007a). Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum. Mol. Genet. 16, 2326-2332.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 2326-2332
    • Sofola, O.A.1    Jin, P.2    Botas, J.3    Nelson, D.L.4
  • 81
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2/ B1 and CUGBP1 suppress fragile X CGG premutation repeatinduced neurodegeneration in a Drosophila model of FXTAS
    • Sofola, O.A., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D.L., and Botas, J. (2007b). RNA-binding proteins hnRNP A2/ B1 and CUGBP1 suppress fragile X CGG premutation repeatinduced neurodegeneration in a Drosophila model of FXTAS. Neuron 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    De Haro, M.6    Nelson, D.L.7    Botas, J.8
  • 83
    • 0037460956 scopus 로고    scopus 로고
    • Triplet repeats in human genome: Distribution and their association with genes and other genomic regions
    • Subramanian, S., Madgula, V.M., George, R., Mishra, R.K., Pandit, M.W., Kumar, C.S., and Singh, L. (2003). Triplet repeats in human genome: distribution and their association with genes and other genomic regions. Bioinformatics 19, 549-552.
    • (2003) Bioinformatics , vol.19 , pp. 549-552
    • Subramanian, S.1    Madgula, V.M.2    George, R.3    Mishra, R.K.4    Pandit, M.W.5    Kumar, C.S.6    Singh, L.7
  • 85
    • 83455162755 scopus 로고    scopus 로고
    • Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration
    • Tan, H., Qurashi, A., Poidevin, M., Nelson, D.L., Li, H., and Jin, P. (2012). Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum. Mol. Genet. 21, 57-65.
    • (2012) Hum. Mol. Genet. , vol.21 , pp. 57-65
    • Tan, H.1    Qurashi, A.2    Poidevin, M.3    Nelson, D.L.4    Li, H.5    Jin, P.6
  • 86
    • 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
  • 87
    • 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
  • 88
    • 57149097433 scopus 로고    scopus 로고
    • Structural insights into RNA recognition by the alternative-splicing regulator muscleblindlike MBNL1
    • Teplova, M. and Patel, D.J. (2008). Structural insights into RNA recognition by the alternative-splicing regulator muscleblindlike 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
  • 89
    • 0035896610 scopus 로고    scopus 로고
    • RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1
    • Timchenko, N.A., Cai, Z.J., Welm, A.L., Reddy, S., Ashizawa, T., and Timchenko, L.T. (2001). RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J. Biol. Chem. 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    Timchenko, L.T.6
  • 90
    • 0033858199 scopus 로고    scopus 로고
    • Microsatellites in different eukaryotic genomes: Survey and analysis
    • Toth, G., Gaspari, Z., and Jurka, J. (2000). Microsatellites in different eukaryotic genomes: survey and analysis. Genome Res. 10, 967-981.
    • (2000) Genome Res. , vol.10 , pp. 967-981
    • Toth, G.1    Gaspari, Z.2    Jurka, J.3
  • 91
    • 80052715145 scopus 로고    scopus 로고
    • Perturbation of U2AF65/NXF1-mediated RNA nuclear export enhances RNA toxicity in polyQ diseases
    • Tsoi, H., Lau, C.K., Lau, K.F., and Chan, H.Y. (2011). Perturbation of U2AF65/NXF1-mediated RNA nuclear export enhances RNA toxicity in polyQ diseases. Hum. Mol. Genet. 20, 3787-3797.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3787-3797
    • Tsoi, H.1    Lau, C.K.2    Lau, K.F.3    Chan, H.Y.4
  • 92
    • 79959781166 scopus 로고    scopus 로고
    • Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs
    • van Eyk, C.L., O ' Keefe, L.V., Lawlor, K.T., Samaraweera, S.E., McLeod, C.J., Price, G.R., Venter, D.J., and Richards, R.I. (2011). Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs. Hum. Mol. Genet. 20, 2783-2794.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2783-2794
    • Van Eyk, C.L.1    O'keefe, L.V.2    Lawlor, K.T.3    Samaraweera, S.E.4    McLeod, C.J.5    Price, G.R.6    Venter, D.J.7    Richards, R.I.8
  • 93
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P. et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6    Reiner, O.7    Richards, S.8    Victoria, M.F.9    Zhang, F.P.10
  • 95
    • 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, 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.
    • (2007) Rna , vol.13 , pp. 2238-2251
    • Warf, M.B.1    Berglund, J.A.2
  • 96
    • 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
  • 97
    • 79960083616 scopus 로고    scopus 로고
    • CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders
    • Wojciechowska, M. and Krzyzosiak, W.J. (2011a). 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
  • 98
    • 80052716635 scopus 로고    scopus 로고
    • Cellular toxicity of expanded RNA repeats: Focus on RNA foci
    • Wojciechowska, M. and Krzyzosiak, W.J. (2011b). Cellular toxicity of expanded RNA repeats: focus on RNA foci. Hum. Mol. Genet. 20, 3811-3821.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3811-3821
    • Wojciechowska, M.1    Krzyzosiak, W.J.2
  • 99
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.