메뉴 건너뛰기




Volumn 69, Issue 24, 2012, Pages 4191-4204

Replacement of huntingtin exon 1 by trans-splicing

Author keywords

Huntington's disease; Neurodegeneration; RNA based therapeutics; Spliceosome mediated trans splicing

Indexed keywords

HUNTINGTIN; MESSENGER RNA PRECURSOR;

EID: 84870680200     PISSN: 1420682X     EISSN: 14209071     Source Type: Journal    
DOI: 10.1007/s00018-012-1083-5     Document Type: Article
Times cited : (17)

References (70)
  • 3
    • 84993912315 scopus 로고
    • Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
    • Zeitlin S, Liu JP, Chapman DL, Papaioannou VE, Efstratiadis A (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet 11:155-163
    • (1995) Nat Genet , vol.11 , pp. 155-163
    • Zeitlin, S.1    Liu, J.P.2    Chapman, D.L.3    Papaioannou, V.E.4    Efstratiadis, A.5
  • 5
    • 1542674455 scopus 로고    scopus 로고
    • Huntingtin: Alive and well and working in middle management
    • MacDonald ME (2003) Huntingtin: alive and well and working in middle management. Sci STKE 207:pe48
    • (2003) Sci STKE , vol.207
    • MacDonald, M.E.1
  • 6
    • 1242338856 scopus 로고    scopus 로고
    • Huntingtin-protein interactions and the pathogenesis of Huntington's disease
    • Li SH, Li XJ (2004)Huntingtin-protein interactions and the pathogenesis of Huntington's disease. Trends Genet 20:146-154
    • (2004) Trends Genet , vol.20 , pp. 146-154
    • Li, S.H.1    Li, X.J.2
  • 10
    • 0031867231 scopus 로고    scopus 로고
    • Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways
    • Velier J, Kim M, Schwarz C, Kim TW, Sapp E, Chase K, Aronin N, DiFiglia M (1998) Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways. Exp Neurol 152:34-40
    • (1998) Exp Neurol , vol.152 , pp. 34-40
    • Velier, J.1    Kim, M.2    Schwarz, C.3    Kim, T.W.4    Sapp, E.5    Chase, K.6    Aronin, N.7    Difiglia, M.8
  • 13
    • 33846225133 scopus 로고    scopus 로고
    • Huntington's disease
    • Walker FO (2007) Huntington's disease. Lancet 369:218-228
    • (2007) Lancet , vol.369 , pp. 218-228
    • Walker, F.O.1
  • 14
    • 0034283877 scopus 로고    scopus 로고
    • Transcriptional dysregulation in Huntington's disease
    • Cha JH (2000)Transcriptional dysregulation in Huntington's disease. Trends Neurosci 23:387-392
    • (2000) Trends Neurosci , vol.23 , pp. 387-392
    • Cha, J.H.1
  • 15
    • 3242692878 scopus 로고    scopus 로고
    • The polyglutamine diseases
    • Bates G, Harper P and Jones L (eds), Oxford University Press, London
    • Bates G, Benn C (2002) The polyglutamine diseases. In: Bates G, Harper P and Jones L (eds) Huntington's disease, Oxford University Press, London, p 429-474
    • (2002) Huntington's Disease , pp. 429-474
    • Bates, G.1    Benn, C.2
  • 17
    • 20044377268 scopus 로고    scopus 로고
    • Early changes in Huntington's disease patient brains involve alterations in cytoskeletal and synaptic elements
    • DiProspero NA, Chen EY, Charles V, Plomann M, Kordower JH, Tagle DA (2004)Early changes in Huntington's disease patient brains involve alterations in cytoskeletal and synaptic elements. J Neurocytol 33:517-533
    • (2004) J Neurocytol , vol.33 , pp. 517-533
    • Diprospero, N.A.1    Chen, E.Y.2    Charles, V.3    Plomann, M.4    Kordower, J.H.5    Tagle, D.A.6
  • 19
    • 57749116408 scopus 로고    scopus 로고
    • Impaired ERAD and ER stress are early and specific events in polyglutamine toxicity
    • Duennwald ML, Lindquist S (2008) Impaired ERAD and ER stress are early and specific events in polyglutamine toxicity. Genes Dev 22:3308-3319
    • (2008) Genes Dev , vol.22 , pp. 3308-3319
    • Duennwald, M.L.1    Lindquist, S.2
  • 20
    • 0033757718 scopus 로고    scopus 로고
    • Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice
    • Dragatsis I, Levine MS, Zeitlin S (2000)Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat Genet 26:300-306
    • (2000) Nat Genet , vol.26 , pp. 300-306
    • Dragatsis, I.1    Levine, M.S.2    Zeitlin, S.3
  • 24
    • 0034834346 scopus 로고    scopus 로고
    • Promiscuity of premRNA spliceosome-mediated trans splicing: A problem for gene therapy?
    • Kikumori T, Cote GJ, Gagel RF (2001) Promiscuity of premRNA spliceosome-mediated trans splicing: a problem for gene therapy? Hum Gene Ther 12:1429-1441
    • (2001) Hum Gene Ther , vol.12 , pp. 1429-1441
    • Kikumori, T.1    Cote, G.J.2    Gagel, R.F.3
  • 25
    • 0034889309 scopus 로고    scopus 로고
    • Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing
    • Puttaraju M, DiPasquale J, Baker CC, Mitchell LG, Garcia-Blanco MA (2001) Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing. Mol Ther 4:105-114
    • (2001) Mol Ther , vol.4 , pp. 105-114
    • Puttaraju, M.1    Dipasquale, J.2    Baker, C.C.3    Mitchell, L.G.4    Garcia-Blanco, M.A.5
  • 26
    • 0142092561 scopus 로고    scopus 로고
    • Extensive exon reshuffling over evolutionary time coupled to trans-splicing in Drosophila
    • Labrador M, Corces VG (2003) Extensive exon reshuffling over evolutionary time coupled to trans-splicing in Drosophila. Genome Res 13:2220-2228
    • (2003) Genome Res , vol.13 , pp. 2220-2228
    • Labrador, M.1    Corces, V.G.2
  • 27
    • 0037135521 scopus 로고    scopus 로고
    • Natural transspliced mRNAs are generated from the human estrogen receptoralpha (hER alpha) gene
    • Flouriot G, Brand H, Seraphin B, Gannon F (2002) Natural transspliced mRNAs are generated from the human estrogen receptoralpha (hER alpha) gene. J Biol Chem 277:26244-26251
    • (2002) J Biol Chem , vol.277 , pp. 26244-26251
    • Flouriot, G.1    Brand, H.2    Seraphin, B.3    Gannon, F.4
  • 28
    • 0037871901 scopus 로고    scopus 로고
    • The modifier of mdg4 locus in Drosophila: Functional complexity is resolved by trans splicing
    • Dorn R, Krauss V (2003) The modifier of mdg4 locus in Drosophila: functional complexity is resolved by trans splicing. Genetica 117:165-177
    • (2003) Genetica , vol.117 , pp. 165-177
    • Dorn, R.1    Krauss, V.2
  • 29
    • 0037155267 scopus 로고    scopus 로고
    • Intergenic mRNA molecules resulting from trans-splicing
    • Finta C, Zaphiropoulos PG (2002) Intergenic mRNA molecules resulting from trans-splicing. J Biol Chem 277:5882-5890
    • (2002) J Biol Chem , vol.277 , pp. 5882-5890
    • Finta, C.1    Zaphiropoulos, P.G.2
  • 31
    • 0026620494 scopus 로고
    • Spliced leader RNAs from lower eukaryotes are trans-spliced in mammalian cells
    • Bruzik JP, Maniatis T (1992) Spliced leader RNAs from lower eukaryotes are trans-spliced in mammalian cells. Nature 360: 692-695
    • (1992) Nature , vol.360 , pp. 692-695
    • Bruzik, J.P.1    Maniatis, T.2
  • 32
    • 51149114001 scopus 로고    scopus 로고
    • A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells
    • Li H, Wang J, Mor G, Sklar J (2008) A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. Science 321:1357-1361
    • (2008) Science , vol.321 , pp. 1357-1361
    • Li, H.1    Wang, J.2    Mor, G.3    Sklar, J.4
  • 34
    • 55649102490 scopus 로고    scopus 로고
    • Development of a single vector system that enhances trans-splicing of SMN2 transcripts
    • Coady TH, Baughan TD, Shababi M, Passini MA, Lorson CL (2008) Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One 3:e3468
    • (2008) PLoS One , vol.3
    • Coady, T.H.1    Baughan, T.D.2    Shababi, M.3    Passini, M.A.4    Lorson, C.L.5
  • 40
    • 44049090443 scopus 로고    scopus 로고
    • AAV vectors for RNA-based modulation of gene expression
    • Danos O (2008) AAV vectors for RNA-based modulation of gene expression. Gene Ther 15:864-869
    • (2008) Gene Ther , vol.15 , pp. 864-869
    • Danos, O.1
  • 41
    • 68549104413 scopus 로고    scopus 로고
    • Progress and challenges in RNA interference therapy for Huntington disease
    • Harper SQ (2009)Progress and challenges in RNA interference therapy for Huntington disease. Arch Neurol 66:933-938
    • (2009) Arch Neurol , vol.66 , pp. 933-938
    • Harper, S.Q.1
  • 43
    • 34347330301 scopus 로고    scopus 로고
    • Modulating the expression of disease genes with RNA-based therapy
    • Wood M, Yin H, McClorey G (2007) Modulating the expression of disease genes with RNA-based therapy. PLoS Genet 3:e109
    • (2007) PLoS Genet , vol.3
    • Wood, M.1    Yin, H.2    McClorey, G.3
  • 47
    • 67349100160 scopus 로고    scopus 로고
    • Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice
    • Boudreau RL, McBride JL, Martins I, Shen S, Xing Y, Carter BJ, Davidson BL (2009)Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice. Mol Ther 17:1053-1063
    • (2009) Mol Ther , vol.17 , pp. 1053-1063
    • Boudreau, R.L.1    McBride, J.L.2    Martins, I.3    Shen, S.4    Xing, Y.5    Carter, B.J.6    Davidson, B.L.7
  • 49
    • 57649228989 scopus 로고    scopus 로고
    • Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages
    • Dietrich P, Shanmugasundaram R, Shuyu E, Dragatsis I (2009)Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages. Hum Mol Genet 18:142-150
    • (2009) Hum Mol Genet , vol.18 , pp. 142-150
    • Dietrich, P.1    Shanmugasundaram, R.2    Shuyu, E.3    Dragatsis, I.4
  • 50
    • 47549105506 scopus 로고    scopus 로고
    • Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts
    • van Bilsen PH, Jaspers L, Lombardi MS, Odekerken JC, Burright EN, Kaemmerer WF (2008) Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts. Hum Gene Ther 19:710-719
    • (2008) Hum Gene Ther , vol.19 , pp. 710-719
    • Van Bilsen, P.H.1    Jaspers, L.2    Lombardi, M.S.3    Odekerken, J.C.4    Burright, E.N.5    Kaemmerer, W.F.6
  • 52
    • 57249086448 scopus 로고    scopus 로고
    • Allele-specific silencing of mutant Huntington's disease gene
    • Zhang Y, Engelman J, Friedlander RM (2009)Allele-specific silencing of mutant Huntington's disease gene. J Neurochem 108:82-90
    • (2009) J Neurochem , vol.108 , pp. 82-90
    • Zhang, Y.1    Engelman, J.2    Friedlander, R.M.3
  • 55
    • 82955237522 scopus 로고    scopus 로고
    • Potent and selective antisense oligonucleotides targeting singlenucleotide polymorphisms in the Huntington disease gene/allelespecific silencing of mutant huntingtin
    • Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, Skotte N, Hung G, Bennett CF, Freier SM, Hayden MR (2011) Potent and selective antisense oligonucleotides targeting singlenucleotide polymorphisms in the Huntington disease gene/allelespecific silencing of mutant huntingtin. Mol Ther 19:2178-2185
    • (2011) Mol Ther , vol.19 , pp. 2178-2185
    • Carroll, J.B.1    Warby, S.C.2    Southwell, A.L.3    Doty, C.N.4    Greenlee, S.5    Skotte, N.6    Hung, G.7    Bennett, C.F.8    Freier, S.M.9    Hayden, M.R.10
  • 56
    • 82955199935 scopus 로고    scopus 로고
    • Preclinical safety of RNAi-mediated HTT suppression in the rhesus macaque as a potential therapy for Huntington's disease
    • McBride JL, Pitzer MR, Boudreau RL, Dufour B, Hobbs T, Ojeda SR, Davidson BL (2011) Preclinical safety of RNAi-mediated HTT suppression in the rhesus macaque as a potential therapy for Huntington's disease. Mol Ther 19:2152-2162
    • (2011) Mol Ther , vol.19 , pp. 2152-2162
    • McBride, J.L.1    Pitzer, M.R.2    Boudreau, R.L.3    Dufour, B.4    Hobbs, T.5    Ojeda, S.R.6    Davidson, B.L.7
  • 57
    • 79959923467 scopus 로고    scopus 로고
    • Protein aggregate spreading in neurodegenerative diseases: Problems and perspectives
    • Lee SJ, Lim HS, Masliah E, Lee HJ (2011) Protein aggregate spreading in neurodegenerative diseases: problems and perspectives. Neurosci Res 70:339-348
    • (2011) Neurosci Res , vol.70 , pp. 339-348
    • Lee, S.J.1    Lim, H.S.2    Masliah, E.3    Lee, H.J.4
  • 58
    • 80054024011 scopus 로고    scopus 로고
    • Pathogenic protein seeding in Alzheimer disease and other neurodegenerative disorders
    • Jucker M, Walker LC (2011) Pathogenic protein seeding in Alzheimer disease and other neurodegenerative disorders. Ann Neurol 70:532-540
    • (2011) Ann Neurol , vol.70 , pp. 532-540
    • Jucker, M.1    Walker, L.C.2
  • 59
    • 59649095699 scopus 로고    scopus 로고
    • Cytoplasmic penetration and persistent infection of mammalian cells by polyglutamine aggregates
    • Ren PH, Lauckner JE, Kachirskaia I, Heuser JE, Melki R, Kopito RR (2009)Cytoplasmic penetration and persistent infection of mammalian cells by polyglutamine aggregates. Nat Cell Biol 11:219-225
    • (2009) Nat Cell Biol , vol.11 , pp. 219-225
    • Ren, P.H.1    Lauckner, J.E.2    Kachirskaia, I.3    Heuser, J.E.4    Melki, R.5    Kopito, R.R.6
  • 60
    • 27144477400 scopus 로고    scopus 로고
    • Gene therapy progress and prospects: Reprogramming gene expression by trans-splicing
    • Mitchell LG, McGarrity GJ (2005)Gene therapy progress and prospects: reprogramming gene expression by trans-splicing. Gene Ther 12:1477-1485
    • (2005) Gene Ther , vol.12 , pp. 1477-1485
    • Mitchell, L.G.1    McGarrity, G.J.2
  • 61
    • 69949102831 scopus 로고    scopus 로고
    • Huntington's disease: The current state of research with peripheral tissues
    • Sassone J, Colciago C, Cislaghi G, Silani V, Ciammola A (2009)Huntington's disease: the current state of research with peripheral tissues. Exp Neurol 219:385-397
    • (2009) Exp Neurol , vol.219 , pp. 385-397
    • Sassone, J.1    Colciago, C.2    Cislaghi, G.3    Silani, V.4    Ciammola, A.5
  • 62
    • 0034704145 scopus 로고    scopus 로고
    • The splicing factor, Prp40, binds the phosphorylated carboxyl-terminal domain of RNA polymerase II
    • Morris DP, Greenleaf AL (2000)The splicing factor, Prp40, binds the phosphorylated carboxyl-terminal domain of RNA polymerase II. J Biol Chem 275:39935-39943
    • (2000) J Biol Chem , vol.275 , pp. 39935-39943
    • Morris, D.P.1    Greenleaf, A.L.2
  • 63
    • 0034774728 scopus 로고    scopus 로고
    • The transcription elongation factor CA150 interacts with RNA polymerase II and the pre-mRNA splicing factor SF1
    • Goldstrohm AC, Albrecht TR, Sune C, Bedford MT, Garcia-Blanco MA (2001) The transcription elongation factor CA150 interacts with RNA polymerase II and the pre-mRNA splicing factor SF1. Mol Cell Biol 21:7617-7628
    • (2001) Mol Cell Biol , vol.21 , pp. 7617-7628
    • Goldstrohm, A.C.1    Albrecht, T.R.2    Sune, C.3    Bedford, M.T.4    Garcia-Blanco, M.A.5
  • 65
    • 24944551962 scopus 로고    scopus 로고
    • Spliceosome-mediated RNA trans-splicing with recombinant adeno-associated virus partially restores cystic fibrosis transmembrane conductance regulator function to polarized human cystic fibrosis airway epithelial cells
    • Liu X, Luo M, Zhang LN, Yan Z, Zak R, Ding W, Mansfield SG, Mitchell LG, Engelhardt JF (2005)Spliceosome-mediated RNA trans-splicing with recombinant adeno-associated virus partially restores cystic fibrosis transmembrane conductance regulator function to polarized human cystic fibrosis airway epithelial cells. Hum Gene Ther 16:1116-1123
    • (2005) Hum Gene Ther , vol.16 , pp. 1116-1123
    • Liu, X.1    Luo, M.2    Zhang, L.N.3    Yan, Z.4    Zak, R.5    Ding, W.6    Mansfield, S.G.7    Mitchell, L.G.8    Engelhardt, J.F.9
  • 67
    • 11244318660 scopus 로고    scopus 로고
    • Gene transfermediated pre-mRNA segmental trans-splicing as a strategy to deliver intracellular toxins for cancer therapy
    • Nakayama K, Pergolizzi RG, Crystal RG (2005)Gene transfermediated pre-mRNA segmental trans-splicing as a strategy to deliver intracellular toxins for cancer therapy. Cancer Res 65:254-263
    • (2005) Cancer Res , vol.65 , pp. 254-263
    • Nakayama, K.1    Pergolizzi, R.G.2    Crystal, R.G.3
  • 69
    • 4043179784 scopus 로고    scopus 로고
    • Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency
    • Tahara M, Pergolizzi RG, Kobayashi H, Krause A, Luettich K, Lesser ML, Crystal RG (2004)Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. Nat Med 10:835-841
    • (2004) Nat Med , vol.10 , pp. 835-841
    • Tahara, M.1    Pergolizzi, R.G.2    Kobayashi, H.3    Krause, A.4    Luettich, K.5    Lesser, M.L.6    Crystal, R.G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.