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Volumn 6, Issue 12, 2011, Pages

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; POLYGLUTAMINE; PEPTIDE; TATA BINDING PROTEIN; TBP PROTEIN, HUMAN;

EID: 82755192455     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0028260     Document Type: Article
Times cited : (18)

References (82)
  • 1
    • 33744937952 scopus 로고    scopus 로고
    • Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down
    • Gomes-Pereira M, Monckton DG, (2006) Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down. Mutat Res 598: 15-34.
    • (2006) Mutat Res , vol.598 , pp. 15-34
    • Gomes-Pereira, M.1    Monckton, D.G.2
  • 2
    • 0034329159 scopus 로고    scopus 로고
    • Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease
    • Gusella JF, MacDonald ME, (2000) Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci 1: 109-115.
    • (2000) Nat Rev Neurosci , vol.1 , pp. 109-115
    • Gusella, J.F.1    MacDonald, M.E.2
  • 4
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
    • Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67: 1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5
  • 6
    • 6844252925 scopus 로고    scopus 로고
    • Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
    • Gouw LG, Castaneda MA, McKenna CK, Digre KB, Pulst SM, et al. (1998) Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 7: 525-532.
    • (1998) Hum Mol Genet , vol.7 , pp. 525-532
    • Gouw, L.G.1    Castaneda, M.A.2    McKenna, C.K.3    Digre, K.B.4    Pulst, S.M.5
  • 7
    • 0034079715 scopus 로고    scopus 로고
    • Heterogeneous mutation processes in human microsatellite DNA sequences
    • Ellegren H, (2000) Heterogeneous mutation processes in human microsatellite DNA sequences. Nat Genet 24: 400-402.
    • (2000) Nat Genet , vol.24 , pp. 400-402
    • Ellegren, H.1
  • 8
    • 34247567905 scopus 로고    scopus 로고
    • Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease
    • Veitch NJ, Ennis M, McAbney JP, Shelbourne PF, Monckton DG, (2007) Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease. DNA Repair (Amst) 6: 789-796.
    • (2007) DNA Repair (Amst) , vol.6 , pp. 789-796
    • Veitch, N.J.1    Ennis, M.2    McAbney, J.P.3    Shelbourne, P.F.4    Monckton, D.G.5
  • 9
    • 0028890669 scopus 로고
    • Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
    • Wong LJ, Ashizawa T, Monckton DG, Caskey CT, Richards CS, (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56: 114-122.
    • (1995) Am J Hum Genet , vol.56 , pp. 114-122
    • Wong, L.J.1    Ashizawa, T.2    Monckton, D.G.3    Caskey, C.T.4    Richards, C.S.5
  • 10
    • 0346752132 scopus 로고    scopus 로고
    • Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
    • Kennedy L, Evans E, Chen CM, Craven L, Detloff PJ, et al. (2003) Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum Mol Genet 12: 3359-3367.
    • (2003) Hum Mol Genet , vol.12 , pp. 3359-3367
    • Kennedy, L.1    Evans, E.2    Chen, C.M.3    Craven, L.4    Detloff, P.J.5
  • 11
    • 0027716510 scopus 로고
    • Somatic instability of CTG repeat in myotonic dystrophy
    • Ashizawa T, Dubel JR, Harati Y, (1993) Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43: 2674-2678.
    • (1993) Neurology , vol.43 , pp. 2674-2678
    • Ashizawa, T.1    Dubel, J.R.2    Harati, Y.3
  • 12
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, et al. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2: 1397-1400.
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Ahlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5
  • 13
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thornton CA, Johnson K, Moxley RT 3rd, (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 3rd, R.T.3
  • 14
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley K, Shirley TL, Flaherty L, Messer A, (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 23: 471-473.
    • (1999) Nat Genet , vol.23 , pp. 471-473
    • Manley, K.1    Shirley, T.L.2    Flaherty, L.3    Messer, A.4
  • 15
    • 0037081784 scopus 로고    scopus 로고
    • Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
    • van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, et al. (2002) Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet 11: 191-198.
    • (2002) Hum Mol Genet , vol.11 , pp. 191-198
    • van den Broek, W.J.1    Nelen, M.R.2    Wansink, D.G.3    Coerwinkel, M.M.4    te Riele, H.5
  • 16
    • 4444323468 scopus 로고    scopus 로고
    • Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
    • Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG, (2004) Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol Genet 13: 1815-1825.
    • (2004) Hum Mol Genet , vol.13 , pp. 1815-1825
    • Gomes-Pereira, M.1    Fortune, M.T.2    Ingram, L.3    McAbney, J.P.4    Monckton, D.G.5
  • 17
    • 34249337762 scopus 로고    scopus 로고
    • OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
    • Kovtun IV, Liu Y, Bjoras M, Klungland A, Wilson SH, et al. (2007) OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 447: 447-452.
    • (2007) Nature , vol.447 , pp. 447-452
    • Kovtun, I.V.1    Liu, Y.2    Bjoras, M.3    Klungland, A.4    Wilson, S.H.5
  • 20
    • 81855206487 scopus 로고    scopus 로고
    • Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1
    • Hubert L Jr, Lin Y, Dion V, Wilson JH, (2011) Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Human Molecular Genetics.
    • (2011) Human Molecular Genetics
    • Hubert Jr., L.1    Lin, Y.2    Dion, V.3    Wilson, J.H.4
  • 21
    • 77952255626 scopus 로고    scopus 로고
    • A novel approach to investigate tissue-specific trinucleotide repeat instability
    • Lee JM, Zhang J, Su AI, Walker JR, Wiltshire T, et al. (2010) A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Systems Biology 4: 29.
    • (2010) BMC Systems Biology , vol.4 , pp. 29
    • Lee, J.M.1    Zhang, J.2    Su, A.I.3    Walker, J.R.4    Wiltshire, T.5
  • 22
    • 0035065524 scopus 로고    scopus 로고
    • Trinucleotide expansion in haploid germ cells by gap repair
    • Kovtun IV, McMurray CT, (2001) Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet 27: 407-411.
    • (2001) Nat Genet , vol.27 , pp. 407-411
    • Kovtun, I.V.1    McMurray, C.T.2
  • 23
    • 33646168124 scopus 로고    scopus 로고
    • Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice
    • Foiry L, Dong L, Savouret C, Hubert L, Riele HT, et al. (2006) Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 119: 520-526.
    • (2006) Hum Genet , vol.119 , pp. 520-526
    • Foiry, L.1    Dong, L.2    Savouret, C.3    Hubert, L.4    Riele, H.T.5
  • 24
    • 0042759661 scopus 로고    scopus 로고
    • The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence
    • Cleary JD, Pearson CE, (2003) The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence. Cytogenet Genome Res 100: 25-55.
    • (2003) Cytogenet Genome Res , vol.100 , pp. 25-55
    • Cleary, J.D.1    Pearson, C.E.2
  • 25
    • 0034639711 scopus 로고    scopus 로고
    • Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
    • Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG, (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum Mol Genet 9: 439-445.
    • (2000) Hum Mol Genet , vol.9 , pp. 439-445
    • Fortune, M.T.1    Vassilopoulos, C.2    Coolbaugh, M.I.3    Siciliano, M.J.4    Monckton, D.G.5
  • 26
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
    • Mangiarini L, Sathasivam K, Mahal A, Mott R, Seller M, et al. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat Genet 15: 197-200.
    • (1997) Nat Genet , vol.15 , pp. 197-200
    • Mangiarini, L.1    Sathasivam, K.2    Mahal, A.3    Mott, R.4    Seller, M.5
  • 28
    • 0034194141 scopus 로고    scopus 로고
    • Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability
    • Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, et al. (2000) Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet 9: 1185-1194.
    • (2000) Hum Mol Genet , vol.9 , pp. 1185-1194
    • Seznec, H.1    Lia-Baldini, A.S.2    Duros, C.3    Fouquet, C.4    Lacroix, C.5
  • 29
    • 12244311838 scopus 로고    scopus 로고
    • Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
    • Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, et al. (2003) Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum Mol Genet 12: 41-50.
    • (2003) Hum Mol Genet , vol.12 , pp. 41-50
    • Libby, R.T.1    Monckton, D.G.2    Fu, Y.H.3    Martinez, R.A.4    McAbney, J.P.5
  • 30
    • 57149089871 scopus 로고    scopus 로고
    • CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination
    • Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, et al. (2008) CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet 4: e1000257.
    • (2008) PLoS Genet , vol.4
    • Libby, R.T.1    Hagerman, K.A.2    Pineda, V.V.3    Lau, R.4    Cho, D.H.5
  • 31
    • 0032971232 scopus 로고    scopus 로고
    • Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands
    • Brock GJ, Anderson NH, Monckton DG, (1999) Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands. Hum Mol Genet 8: 1061-1067.
    • (1999) Hum Mol Genet , vol.8 , pp. 1061-1067
    • Brock, G.J.1    Anderson, N.H.2    Monckton, D.G.3
  • 32
    • 0031469707 scopus 로고    scopus 로고
    • Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse
    • Ordway JM, Tallaksen-Greene S, Gutekunst CA, Bernstein EM, Cearley JA, et al. (1997) Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 91: 753-763.
    • (1997) Cell , vol.91 , pp. 753-763
    • Ordway, J.M.1    Tallaksen-Greene, S.2    Gutekunst, C.A.3    Bernstein, E.M.4    Cearley, J.A.5
  • 33
    • 0034110465 scopus 로고    scopus 로고
    • Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila
    • Marsh JL, Walker H, Theisen H, Zhu YZ, Fielder T, et al. (2000) Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila. Hum Mol Genet 9: 13-25.
    • (2000) Hum Mol Genet , vol.9 , pp. 13-25
    • Marsh, J.L.1    Walker, H.2    Theisen, H.3    Zhu, Y.Z.4    Fielder, T.5
  • 34
    • 33747359908 scopus 로고    scopus 로고
    • Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle
    • Riley BE, Orr HT, (2006) Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle. Genes Dev 20: 2183-2192.
    • (2006) Genes Dev , vol.20 , pp. 2183-2192
    • Riley, B.E.1    Orr, H.T.2
  • 35
    • 28444444502 scopus 로고    scopus 로고
    • Polyglutamine is not all: the functional role of the AXH domain in the ataxin-1 protein
    • de Chiara C, Menon RP, Dal Piaz F, Calder L, Pastore A, (2005) Polyglutamine is not all: the functional role of the AXH domain in the ataxin-1 protein. J Mol Biol 354: 883-893.
    • (2005) J Mol Biol , vol.354 , pp. 883-893
    • de Chiara, C.1    Menon, R.P.2    Dal Piaz, F.3    Calder, L.4    Pastore, A.5
  • 36
    • 0038521282 scopus 로고    scopus 로고
    • Polyglutamines placed into context
    • La Spada AR, Taylor JP, (2003) Polyglutamines placed into context. Neuron 38: 681-684.
    • (2003) Neuron , vol.38 , pp. 681-684
    • La Spada, A.R.1    Taylor, J.P.2
  • 37
    • 25844487226 scopus 로고    scopus 로고
    • Diseases of unstable repeat expansion: mechanisms and common principles
    • Gatchel JR, Zoghbi HY, (2005) Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 6: 743-755.
    • (2005) Nat Rev Genet , vol.6 , pp. 743-755
    • Gatchel, J.R.1    Zoghbi, H.Y.2
  • 38
    • 77955647254 scopus 로고    scopus 로고
    • Towards the Treatment of Polyglutamine Diseases: The Modulatory Role of Protein Context
    • Robertson AL, Bottomley SP, (2010) Towards the Treatment of Polyglutamine Diseases: The Modulatory Role of Protein Context. Curr Med Chem.
    • (2010) Curr Med Chem
    • Robertson, A.L.1    Bottomley, S.P.2
  • 40
    • 33747396563 scopus 로고    scopus 로고
    • Expansion of amino acid homo-sequences in proteins: Insights into the role of amino acid homo-polymers and of the protein context in aggregation
    • Menon RP, Pastore A, (2006) Expansion of amino acid homo-sequences in proteins: Insights into the role of amino acid homo-polymers and of the protein context in aggregation. Cell Mol Life Sci.
    • (2006) Cell Mol Life Sci
    • Menon, R.P.1    Pastore, A.2
  • 41
    • 0942287194 scopus 로고    scopus 로고
    • Poly-ubiquitin binding by the polyglutamine disease protein ataxin-3 links its normal function to protein surveillance pathways
    • Chai Y, Berke SS, Cohen RE, Paulson HL, (2004) Poly-ubiquitin binding by the polyglutamine disease protein ataxin-3 links its normal function to protein surveillance pathways. J Biol Chem 279: 3605-3611.
    • (2004) J Biol Chem , vol.279 , pp. 3605-3611
    • Chai, Y.1    Berke, S.S.2    Cohen, R.E.3    Paulson, H.L.4
  • 42
    • 33748741301 scopus 로고    scopus 로고
    • CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation
    • Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, et al. (2006) CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. J Biol Chem.
    • (2006) J Biol Chem
    • Al-Ramahi, I.1    Lam, Y.C.2    Chen, H.K.3    de Gouyon, B.4    Zhang, M.5
  • 43
    • 0037846441 scopus 로고    scopus 로고
    • Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
    • Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, et al. (2003) Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron 38: 375-387.
    • (2003) Neuron , vol.38 , pp. 375-387
    • Emamian, E.S.1    Kaytor, M.D.2    Duvick, L.A.3    Zu, T.4    Tousey, S.K.5
  • 44
    • 77957007354 scopus 로고    scopus 로고
    • SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776
    • Duvick L, Barnes J, Ebner B, Agrawal S, Andresen M, et al. (2010) SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron 67: 929-935.
    • (2010) Neuron , vol.67 , pp. 929-935
    • Duvick, L.1    Barnes, J.2    Ebner, B.3    Agrawal, S.4    Andresen, M.5
  • 45
    • 77957001698 scopus 로고    scopus 로고
    • PolyQ disease: too many Qs, too much function?
    • Kratter IH, Finkbeiner S, (2010) PolyQ disease: too many Qs, too much function? Neuron 67: 897-899.
    • (2010) Neuron , vol.67 , pp. 897-899
    • Kratter, I.H.1    Finkbeiner, S.2
  • 46
    • 0029084074 scopus 로고
    • Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum
    • Leeflang EP, Zhang L, Tavare S, Hubert R, Srinidhi J, et al. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet 4: 1519-1526.
    • (1995) Hum Mol Genet , vol.4 , pp. 1519-1526
    • Leeflang, E.P.1    Zhang, L.2    Tavare, S.3    Hubert, R.4    Srinidhi, J.5
  • 47
    • 0032712586 scopus 로고    scopus 로고
    • Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males
    • Monckton DG, Cayuela ML, Gould FK, Brock GJ, Silva R, et al. (1999) Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum Mol Genet 8: 2473-2478.
    • (1999) Hum Mol Genet , vol.8 , pp. 2473-2478
    • Monckton, D.G.1    Cayuela, M.L.2    Gould, F.K.3    Brock, G.J.4    Silva, R.5
  • 48
    • 0030944114 scopus 로고    scopus 로고
    • The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
    • Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM, (1997) The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 60: 842-850.
    • (1997) Am J Hum Genet , vol.60 , pp. 842-850
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, C.P.3    Treiman, L.J.4    Pulst, S.M.5
  • 49
    • 0031714729 scopus 로고    scopus 로고
    • Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
    • Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, et al. (1998) Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51: 1081-1086.
    • (1998) Neurology , vol.51 , pp. 1081-1086
    • Benton, C.S.1    de Silva, R.2    Rutledge, S.L.3    Bohlega, S.4    Ashizawa, T.5
  • 50
    • 0034640011 scopus 로고    scopus 로고
    • Fourteen and counting: unraveling trinucleotide repeat diseases
    • Cummings CJ, Zoghbi HY, (2000) Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 9: 909-916.
    • (2000) Hum Mol Genet , vol.9 , pp. 909-916
    • Cummings, C.J.1    Zoghbi, H.Y.2
  • 51
    • 31544447731 scopus 로고    scopus 로고
    • Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?
    • Squitieri F, Frati L, Ciarmiello A, Lastoria S, Quarrell O, (2006) Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech Ageing Dev 127: 208-212.
    • (2006) Mech Ageing Dev , vol.127 , pp. 208-212
    • Squitieri, F.1    Frati, L.2    Ciarmiello, A.3    Lastoria, S.4    Quarrell, O.5
  • 52
    • 6844254538 scopus 로고    scopus 로고
    • Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
    • David G, Durr A, Stevanin G, Cancel G, Abbas N, et al. (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7: 165-170.
    • (1998) Hum Mol Genet , vol.7 , pp. 165-170
    • David, G.1    Durr, A.2    Stevanin, G.3    Cancel, G.4    Abbas, N.5
  • 53
    • 36949031088 scopus 로고    scopus 로고
    • A Universal Mechanism Ties Genotype to Phenotype in Trinucleotide Diseases
    • Kaplan S, Itzkovitz S, Shapiro E, (2007) A Universal Mechanism Ties Genotype to Phenotype in Trinucleotide Diseases. PLoS Comput Biol 3: e235.
    • (2007) PLoS Comput Biol , vol.3
    • Kaplan, S.1    Itzkovitz, S.2    Shapiro, E.3
  • 54
    • 12144288251 scopus 로고    scopus 로고
    • Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
    • Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, et al. (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A 101: 3498-3503.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 3498-3503
    • Wexler, N.S.1    Lorimer, J.2    Porter, J.3    Gomez, F.4    Moskowitz, C.5
  • 55
    • 0030975726 scopus 로고    scopus 로고
    • Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients
    • Maciel P, Lopes-Cendes I, Kish S, Sequeiros J, Rouleau GA, (1997) Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. Am J Hum Genet 60: 993-996.
    • (1997) Am J Hum Genet , vol.60 , pp. 993-996
    • Maciel, P.1    Lopes-Cendes, I.2    Kish, S.3    Sequeiros, J.4    Rouleau, G.A.5
  • 56
    • 0029619259 scopus 로고
    • Knowledge-based protein secondary structure assignment
    • Frishman D, Argos P, (1995) Knowledge-based protein secondary structure assignment. Proteins 23: 566-579.
    • (1995) Proteins , vol.23 , pp. 566-579
    • Frishman, D.1    Argos, P.2
  • 57
    • 3242887525 scopus 로고    scopus 로고
    • STRIDE: a web server for secondary structure assignment from known atomic coordinates of proteins
    • Heinig M, Frishman D, (2004) STRIDE: a web server for secondary structure assignment from known atomic coordinates of proteins. Nucleic Acids Res 32: W500-502.
    • (2004) Nucleic Acids Res , vol.32
    • Heinig, M.1    Frishman, D.2
  • 58
    • 0038278386 scopus 로고    scopus 로고
    • Hidden Markov models that use predicted local structure for fold recognition: alphabets of backbone geometry
    • Karchin R, Cline M, Mandel-Gutfreund Y, Karplus K, (2003) Hidden Markov models that use predicted local structure for fold recognition: alphabets of backbone geometry. Proteins 51: 504-514.
    • (2003) Proteins , vol.51 , pp. 504-514
    • Karchin, R.1    Cline, M.2    Mandel-Gutfreund, Y.3    Karplus, K.4
  • 59
    • 74549125753 scopus 로고    scopus 로고
    • An abundance of ubiquitously expressed genes revealed by tissue transcriptome sequence data
    • Ramskold D, Wang ET, Burge CB, Sandberg R, (2009) An abundance of ubiquitously expressed genes revealed by tissue transcriptome sequence data. PLoS Comput Biol 5: e1000598.
    • (2009) PLoS Comput Biol , vol.5
    • Ramskold, D.1    Wang, E.T.2    Burge, C.B.3    Sandberg, R.4
  • 60
    • 0029883805 scopus 로고    scopus 로고
    • Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
    • Pearson CE, Sinden RR, (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35: 5041-5053.
    • (1996) Biochemistry , vol.35 , pp. 5041-5053
    • Pearson, C.E.1    Sinden, R.R.2
  • 62
    • 77953024102 scopus 로고    scopus 로고
    • The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells
    • Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, et al. (2010) The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. Acta Neuropathologica 119: 447-464.
    • (2010) Acta Neuropathologica , vol.119 , pp. 447-464
    • Ishiguro, T.1    Ishikawa, K.2    Takahashi, M.3    Obayashi, M.4    Amino, T.5
  • 63
    • 80051795157 scopus 로고    scopus 로고
    • Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy
    • Oz G, Iltis I, Hutter D, Thomas W, Bushara KO, et al. (2011) Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum 10: 208-217.
    • (2011) Cerebellum , vol.10 , pp. 208-217
    • Oz, G.1    Iltis, I.2    Hutter, D.3    Thomas, W.4    Bushara, K.O.5
  • 64
    • 0035503901 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?
    • Frontali M, (2001) Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder? Brain Res Bull 56: 227-231.
    • (2001) Brain Res Bull , vol.56 , pp. 227-231
    • Frontali, M.1
  • 65
    • 33845543889 scopus 로고    scopus 로고
    • Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach
    • Tomiuk J, Bachmann L, Bauer C, Rolfs A, Schols L, et al. (2007) Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach. Eur J Hum Genet 15: 81-87.
    • (2007) Eur J Hum Genet , vol.15 , pp. 81-87
    • Tomiuk, J.1    Bachmann, L.2    Bauer, C.3    Rolfs, A.4    Schols, L.5
  • 66
    • 34447505182 scopus 로고    scopus 로고
    • Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17
    • Rasmussen A, De Biase I, Fragoso-Benitez M, Macias-Flores MA, Yescas P, et al. (2007) Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol 61: 607-610.
    • (2007) Ann Neurol , vol.61 , pp. 607-610
    • Rasmussen, A.1    de Biase, I.2    Fragoso-Benitez, M.3    Macias-Flores, M.A.4    Yescas, P.5
  • 67
    • 26444569294 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
    • Zuhlke C, Dalski A, Schwinger E, Finckh U, (2005) Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet 6: 27.
    • (2005) BMC Med Genet , vol.6 , pp. 27
    • Zuhlke, C.1    Dalski, A.2    Schwinger, E.3    Finckh, U.4
  • 68
    • 38349174489 scopus 로고    scopus 로고
    • Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17
    • Gao R, Matsuura T, Coolbaugh M, Zuhlke C, Nakamura K, et al. (2008) Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet 16: 215-222.
    • (2008) Eur J Hum Genet , vol.16 , pp. 215-222
    • Gao, R.1    Matsuura, T.2    Coolbaugh, M.3    Zuhlke, C.4    Nakamura, K.5
  • 69
    • 10744221735 scopus 로고    scopus 로고
    • Intergenerational instability and marked anticipation in SCA-17
    • Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, et al. (2003) Intergenerational instability and marked anticipation in SCA-17. Neurology 61: 1441-1443.
    • (2003) Neurology , vol.61 , pp. 1441-1443
    • Maltecca, F.1    Filla, A.2    Castaldo, I.3    Coppola, G.4    Fragassi, N.A.5
  • 70
    • 0033042856 scopus 로고    scopus 로고
    • The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
    • Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S, (1999) The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). J Med Genet 36: 546-548.
    • (1999) J Med Genet , vol.36 , pp. 546-548
    • Matsuyama, Z.1    Izumi, Y.2    Kameyama, M.3    Kawakami, H.4    Nakamura, S.5
  • 71
    • 0028828776 scopus 로고
    • A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1
    • Quan F, Janas J, Popovich BW, (1995) A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet 4: 2411-2413.
    • (1995) Hum Mol Genet , vol.4 , pp. 2411-2413
    • Quan, F.1    Janas, J.2    Popovich, B.W.3
  • 72
    • 0033614762 scopus 로고    scopus 로고
    • CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci
    • Frontali M, Novelletto A, Annesi G, Jodice C, (1999) CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci. Philos Trans R Soc Lond B Biol Sci 354: 1089-1094.
    • (1999) Philos Trans R Soc Lond B Biol Sci , vol.354 , pp. 1089-1094
    • Frontali, M.1    Novelletto, A.2    Annesi, G.3    Jodice, C.4
  • 73
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, et al. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5: 254-258.
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • Chung, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5
  • 74
  • 75
    • 36349021396 scopus 로고    scopus 로고
    • Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
    • Charles P, Camuzat A, Benammar N, Sellal F, Destee A, et al. (2007) Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology 69: 1970-1975.
    • (2007) Neurology , vol.69 , pp. 1970-1975
    • Charles, P.1    Camuzat, A.2    Benammar, N.3    Sellal, F.4    Destee, A.5
  • 76
    • 0028791554 scopus 로고
    • Stability of the Huntington disease (CAG)n repeat in a late onset form occuring on the Island of Crete
    • Tzagournissakis M, Fesdjian CO, Shashidharan P, Plaitakis A, (1995) Stability of the Huntington disease (CAG)n repeat in a late onset form occuring on the Island of Crete. Hum Mol Genet 4: 2239-2243.
    • (1995) Hum Mol Genet , vol.4 , pp. 2239-2243
    • Tzagournissakis, M.1    Fesdjian, C.O.2    Shashidharan, P.3    Plaitakis, A.4
  • 77
    • 33644850408 scopus 로고    scopus 로고
    • Late-onset and typical Huntington disease families from Crete have distinct genetic origins
    • Kartsaki E, Spanaki C, Tzagournissakis M, Petsakou A, Moschonas N, et al. (2006) Late-onset and typical Huntington disease families from Crete have distinct genetic origins. Int J Mol Med 17: 335-346.
    • (2006) Int J Mol Med , vol.17 , pp. 335-346
    • Kartsaki, E.1    Spanaki, C.2    Tzagournissakis, M.3    Petsakou, A.4    Moschonas, N.5
  • 78
    • 68049113685 scopus 로고    scopus 로고
    • Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
    • Swami M, Hendricks AE, Gillis T, Massood T, Mysore J, et al. (2009) Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum Mol Genet 18: 3039-3047.
    • (2009) Hum Mol Genet , vol.18 , pp. 3039-3047
    • Swami, M.1    Hendricks, A.E.2    Gillis, T.3    Massood, T.4    Mysore, J.5
  • 79
    • 46749157501 scopus 로고    scopus 로고
    • Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice
    • Gray M, Shirasaki DI, Cepeda C, Andre VM, Wilburn B, et al. (2008) Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. The Journal of Neuroscience 28: 6182-6195.
    • (2008) The Journal of Neuroscience , vol.28 , pp. 6182-6195
    • Gray, M.1    Shirasaki, D.I.2    Cepeda, C.3    Andre, V.M.4    Wilburn, B.5
  • 80
    • 0037321290 scopus 로고    scopus 로고
    • Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum
    • Wheeler VC, Lebel LA, Vrbanac V, Teed A, te Riele H, et al. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet 12: 273-281.
    • (2003) Hum Mol Genet , vol.12 , pp. 273-281
    • Wheeler, V.C.1    Lebel, L.A.2    Vrbanac, V.3    Teed, A.4    te Riele, H.5
  • 81
  • 82
    • 0034652474 scopus 로고    scopus 로고
    • The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression
    • Edelmann W, Umar A, Yang K, Heyer J, Kucherlapati M, et al. (2000) The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. Cancer Research 60: 803-807.
    • (2000) Cancer Research , vol.60 , pp. 803-807
    • Edelmann, W.1    Umar, A.2    Yang, K.3    Heyer, J.4    Kucherlapati, M.5


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