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Volumn 13, Issue 3, 2012, Pages 265-269

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

Author keywords

Amyotrophic lateral sclerosis; Huntington's disease; Neurodegenerative disease; Polyglutamine expansion; Trinucleotide repeat

Indexed keywords

GENOMIC DNA; HUNTINGTIN;

EID: 84860387378     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2011.653573     Document Type: Article
Times cited : (16)

References (30)
  • 1
    • 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
    • The Huntington s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington s disease chromosomes. Cell. 1993;72:971-83.
    • (1993) Cell. , vol.72 , pp. 971-983
  • 2
    • 33847694688 scopus 로고    scopus 로고
    • Autopsy-proven Huntington's disease with 29 trinucleotide repeats
    • DOI 10.1002/mds.21195
    • Kenney C, Powell S, Jankovic J. Autopsy-proven Huntington s disease with 29 trinucleotide repeats. Mov Disord. 2007;22:127-30. (Pubitemid 46382686)
    • (2007) Movement Disorders , vol.22 , Issue.1 , pp. 127-130
    • Kenney, C.1    Powell, S.2    Jankovic, J.3
  • 3
    • 42549146696 scopus 로고    scopus 로고
    • SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management
    • DOI 10.1080/17482960801900073, PII 792335655
    • Eisen A, Mezei MM, Stewart HG, Fabros M, Gibson G, Andersen PM. SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler. 2008;9:108-19. (Pubitemid 351584037)
    • (2008) Amyotrophic Lateral Sclerosis , vol.9 , Issue.2 , pp. 108-119
    • Eisen, A.1    Mezei, M.M.2    Stewart, H.G.3    Fabros, M.4    Gibson, G.5    Andersen, P.M.6
  • 7
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance C, Rogelj B, Hortobagyi T, de Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science. 2009;323:1208-11.
    • (2009) Science , vol.323 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobagyi, T.3    De Vos, K.J.4    Nishimura, A.L.5    Sreedharan, J.6
  • 9
    • 73249135817 scopus 로고    scopus 로고
    • The RNA-binding protein FUS/TLS is a common aggregateinteracting protein in polyglutamine diseases
    • Doi H, Koyano S, Suzuki Y, Nukina N, Kuroiwa Y. The RNA-binding protein FUS/TLS is a common aggregateinteracting protein in polyglutamine diseases. Neurosci Res. 2010;66:131-3.
    • (2010) Neurosci. Res. , vol.66 , pp. 131-133
    • Doi, H.1    Koyano, S.2    Suzuki, Y.3    Nukina, N.4    Kuroiwa, Y.5
  • 10
    • 58149398638 scopus 로고    scopus 로고
    • Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington s disease
    • Schwab C, Arai T, Hasegawa M, Yu S, McGeer PL. Colocalization of transactivation-responsive DNA-binding protein 43 and huntingtin in inclusions of Huntington s disease. J Neuropathol Exp Neurol. 2008;67:1159-65.
    • (2008) J. Neuropathol. Exp. Neurol. , vol.67 , pp. 1159-1165
    • Schwab, C.1    Arai, T.2    Hasegawa, M.3    Yu, S.4    McGeer, P.L.5
  • 13
    • 79954594082 scopus 로고    scopus 로고
    • Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
    • Hortobagyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, et al. Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders. Acta Neuropathol. 2011;121:519-27.
    • (2011) Acta. Neuropathol. , vol.121 , pp. 519-527
    • Hortobagyi, T.1    Troakes, C.2    Nishimura, A.L.3    Vance, C.4    Van Swieten, J.C.5    Seelaar, H.6
  • 14
    • 65249141171 scopus 로고    scopus 로고
    • Mutant huntingtin impairs post-Golgi traffi cking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus
    • del Toro D, Alberch J, Lazaro-Dieguez F, Martin-Ibanez R, Xifro X, Egea G, et al. Mutant huntingtin impairs post-Golgi traffi cking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatus. Mol Biol Cell. 2009;20:1478-92.
    • (2009) Mol. Biol. Cell. , vol.20 , pp. 1478-1492
    • Del Toro, D.1    Alberch, J.2    Lazaro-Dieguez, F.3    Martin-Ibanez, R.4    Xifro, X.5    Egea, G.6
  • 15
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in non-coding region of c9orf72 causes chromosome 9p-linked ftd and ALS
    • Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC Hexanucleotide Repeat in Non-coding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. Neuron. 2011;72:245-56.
    • (2011) Neuron , Issue.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 16
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in c9orf72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron. 2011;72:257-68.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simon-Sanchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 17
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010;466:1069-75.
    • (2010) Nature , vol.466 , pp. 1069-1075
    • Elden, A.C.1    Kim, H.J.2    Hart, M.P.3    Chen-Plotkin, A.S.4    Johnson, B.S.5    Fang, X.6
  • 18
    • 79953176451 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
    • Lee T, Li YR, Ingre C, Weber M, Grehl T, Gredal O, et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet. 2011;20: 1697-700.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1697-1700
    • Lee, T.1    Li, Y.R.2    Ingre, C.3    Weber, M.4    Grehl, T.5    Gredal, O.6
  • 20
    • 77951871112 scopus 로고    scopus 로고
    • Prevalence of incompletely penetrant Huntington s disease alleles among individuals with major depressive disorder
    • Perlis RH, Smoller JW, Mysore J, Sun M, Gillis T, Purcell S, et al. Prevalence of incompletely penetrant Huntington s disease alleles among individuals with major depressive disorder. Am J Psychiatry. 2010;167:574-9.
    • (2010) Am. J. Psychiatry. , vol.167 , pp. 574-579
    • Perlis, R.H.1    Smoller, J.W.2    Mysore, J.3    Sun, M.4    Gillis, T.5    Purcell, S.6
  • 21
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
    • DOI 10.1006/mcpr.1993.1034
    • Warner JP, Barron LH, Brock DJ. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington s disease chromosomes. Mol Cell Probes. 1993;7:235-9. (Pubitemid 23232244)
    • (1993) Molecular and Cellular Probes , vol.7 , Issue.3 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.H.3
  • 23
    • 39349083915 scopus 로고    scopus 로고
    • Adapting proteostasis for disease intervention
    • DOI 10.1126/science.1141448
    • Balch WE, Morimoto RI, Dillin A, Kelly JW. Adapting proteostasis for disease intervention. Science. 2008;319: 916-9. (Pubitemid 351263754)
    • (2008) Science , vol.319 , Issue.5865 , pp. 916-919
    • Balch, W.E.1    Morimoto, R.I.2    Dillin, A.3    Kelly, J.W.4
  • 24
    • 33644850056 scopus 로고    scopus 로고
    • Progressive disruption of cellular protein folding in models of polyglutamine diseases
    • DOI 10.1126/science.1124514
    • Gidalevitz T, Ben-Zvi A, Ho KH, Brignull HR, Morimoto RI. Progressive disruption of cellular protein folding in models of polyglutamine diseases. Science. 2006;311:1471-4. (Pubitemid 43376703)
    • (2006) Science , vol.311 , Issue.5766 , pp. 1471-1474
    • Gidalevitz, T.1    Ben-Zvi, A.2    Ho, K.H.3    Brignull, H.R.4    Morimoto, R.I.5
  • 27
    • 43049172362 scopus 로고    scopus 로고
    • Chorea-ballism associated with familial amyotrophic lateral sclerosis: A clinical, genetic, and neuropathological study
    • Gamez J, Corbera-Bellalta M, Mila M, Lopez-Lisbona R, Boluda S, Ferrer I. Chorea-ballism associated with familial amyotrophic lateral sclerosis: A clinical, genetic, and neuropathological study. Mov Disord. 2008;23:434-8.
    • (2008) Mov. Disord. , vol.23 , pp. 434-438
    • Gamez, J.1    Corbera-Bellalta, M.2    Mila, M.3    Lopez-Lisbona, R.4    Boluda, S.5    Ferrer, I.6
  • 29
    • 79959652226 scopus 로고    scopus 로고
    • Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis
    • Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, et al. Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology. 2011;76: 2062-5.
    • (2011) Neurology , vol.76 , pp. 2062-2065
    • Lee, T.1    Li, Y.R.2    Chesi, A.3    Hart, M.P.4    Ramos, D.5    Jethava, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.