메뉴 건너뛰기




Volumn 18, Issue 17, 2009, Pages 3266-3273

Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN MAPT; TAU PROTEIN; UNCLASSIFIED DRUG;

EID: 68749092850     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp264     Document Type: Article
Times cited : (47)

References (49)
  • 1
    • 34548036227 scopus 로고    scopus 로고
    • Tau-mediated neurodegeneration in Alzheimer's disease and related disorders
    • Ballatore, C., Lee, V.M. and Trojanowski, J.Q. (2007) Tau-mediated neurodegeneration in Alzheimer's disease and related disorders. Nat. Rev. Neurosci., 8, 663-672.
    • (2007) Nat. Rev. Neurosci , vol.8 , pp. 663-672
    • Ballatore, C.1    Lee, V.M.2    Trojanowski, J.Q.3
  • 2
    • 34447124582 scopus 로고    scopus 로고
    • RNA and protein-dependent mechanisms in tauopathies: Consequences for therapeutic strategies
    • Gallo, J.-M., Noble, W. and Rodriguez Martin, T. (2007) RNA and protein-dependent mechanisms in tauopathies: Consequences for therapeutic strategies. Cell. Mol. Life Sci., 64, 1701-1714.
    • (2007) Cell. Mol. Life Sci , vol.64 , pp. 1701-1714
    • Gallo, J.-M.1    Noble, W.2    Rodriguez Martin, T.3
  • 3
    • 33748372746 scopus 로고    scopus 로고
    • Tauopathies: Classification and clinical update on neurodegenerative diseases associated with microtubule-associated protein tau
    • Williams, D.R. (2006) Tauopathies: Classification and clinical update on neurodegenerative diseases associated with microtubule-associated protein tau. Intern. Med. J., 36, 652-660.
    • (2006) Intern. Med. J , vol.36 , pp. 652-660
    • Williams, D.R.1
  • 7
    • 10944241542 scopus 로고    scopus 로고
    • Tau alteration and neuronal degeneration in tauopathies: Mechanisms and models
    • Brandt, R., Hundelt, M. and Shahani, N. (2005) Tau alteration and neuronal degeneration in tauopathies: Mechanisms and models. Biochim. Biophys. Acta., 1739, 331-354.
    • (2005) Biochim. Biophys. Acta , vol.1739 , pp. 331-354
    • Brandt, R.1    Hundelt, M.2    Shahani, N.3
  • 10
    • 39749165656 scopus 로고    scopus 로고
    • Differential regulation of dynein and kinesin motor proteins by tau
    • Dixit, R., Ross, J.L., Goldman, Y.E. and Holzbaur, E.L. (2008) Differential regulation of dynein and kinesin motor proteins by tau. Science, 319, 1086-1089.
    • (2008) Science , vol.319 , pp. 1086-1089
    • Dixit, R.1    Ross, J.L.2    Goldman, Y.E.3    Holzbaur, E.L.4
  • 14
    • 0033591225 scopus 로고    scopus 로고
    • 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
    • Grover, A., Houlden, H., Baker, M., Adamson, J., Lewis, J., Prihar, G., Pickering-Brown, S., Duff, K. and Hutton, M. (1999) 5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J. Biol. Chem., 274, 15134-15143.
    • (1999) J. Biol. Chem , vol.274 , pp. 15134-15143
    • Grover, A.1    Houlden, H.2    Baker, M.3    Adamson, J.4    Lewis, J.5    Prihar, G.6    Pickering-Brown, S.7    Duff, K.8    Hutton, M.9
  • 15
    • 33747634776 scopus 로고    scopus 로고
    • Stabilization of the tau exon 10 stem loop alters pre-mRNA splicing
    • Donahue, C.P., Muratore, C., Wu, J.Y., Kosik, K.S. and Wolfe, M.S. (2006) Stabilization of the tau exon 10 stem loop alters pre-mRNA splicing. J. Biol. Chem., 281, 23302-23306.
    • (2006) J. Biol. Chem , vol.281 , pp. 23302-23306
    • Donahue, C.P.1    Muratore, C.2    Wu, J.Y.3    Kosik, K.S.4    Wolfe, M.S.5
  • 16
    • 0033545946 scopus 로고    scopus 로고
    • Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
    • D'Souza, I., Poorkaj, P., Hong, M., Nochlin, D., Lee, V.M., Bird, T.D. and Schellenberg, G.D. (1999) Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl Acad. Sci. USA, 96, 5598-5603.
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 5598-5603
    • D'Souza, I.1    Poorkaj, P.2    Hong, M.3    Nochlin, D.4    Lee, V.M.5    Bird, T.D.6    Schellenberg, G.D.7
  • 17
    • 0038819945 scopus 로고    scopus 로고
    • Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2β
    • Jiang, Z., Tang, H., Havlioglu, N., Zhang, X., Stamm, S., Yan, R. and Wu, J.Y. (2003) Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2β. J. Biol. Chem., 278, 18997-19007.
    • (2003) J. Biol. Chem , vol.278 , pp. 18997-19007
    • Jiang, Z.1    Tang, H.2    Havlioglu, N.3    Zhang, X.4    Stamm, S.5    Yan, R.6    Wu, J.Y.7
  • 18
    • 3042852095 scopus 로고    scopus 로고
    • A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10
    • Yu, Q., Guo, J. and Zhou, J. (2004) A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10. J. Neurochem., 90, 164-172.
    • (2004) J. Neurochem , vol.90 , pp. 164-172
    • Yu, Q.1    Guo, J.2    Zhou, J.3
  • 19
    • 0034073995 scopus 로고    scopus 로고
    • Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17
    • Jiang, Z., Cote, J., Kwon, J.M., Goate, A.M. and Wu, J.Y. (2000) Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol. Cell Biol., 20, 4036-4048.
    • (2000) Mol. Cell Biol , vol.20 , pp. 4036-4048
    • Jiang, Z.1    Cote, J.2    Kwon, J.M.3    Goate, A.M.4    Wu, J.Y.5
  • 20
    • 0033060662 scopus 로고    scopus 로고
    • FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
    • Hasegawa, M., Smith, M.J., Iijima, M., Tabira, T. and Goedert, M. (1999) FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett., 443, 93-96.
    • (1999) FEBS Lett , vol.443 , pp. 93-96
    • Hasegawa, M.1    Smith, M.J.2    Iijima, M.3    Tabira, T.4    Goedert, M.5
  • 21
    • 33646340445 scopus 로고    scopus 로고
    • Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: Altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Δ280K and N279K
    • D'Souza, I. and Schellenberg, G.D. (2006) Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: Altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Δ280K and N279K. J. Biol. Chem., 281, 2460-2469.
    • (2006) J. Biol. Chem , vol.281 , pp. 2460-2469
    • D'Souza, I.1    Schellenberg, G.D.2
  • 28
    • 49649108878 scopus 로고    scopus 로고
    • A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators
    • Stoilov, P., Lin, C.H., Damoiseaux, R., Nikolic, J. and Black, D.L. (2008) A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators. Proc. Natl Acad. Sci. USA, 105, 11218-11223.
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 11218-11223
    • Stoilov, P.1    Lin, C.H.2    Damoiseaux, R.3    Nikolic, J.4    Black, D.L.5
  • 29
    • 34347330301 scopus 로고    scopus 로고
    • Modulating the expression of disease genes with RNA-based therapy
    • Wood, M., Yin, H. and 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
  • 30
    • 0141608626 scopus 로고    scopus 로고
    • Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing
    • Garcia-Blanco, M.A. (2003) Messenger RNA reprogramming by spliceosome-mediated RNA trans-splicing. J. Clin. Invest., 112 474-480.
    • (2003) J. Clin. Invest , vol.112 , pp. 474-480
    • Garcia-Blanco, M.A.1
  • 31
    • 2642530193 scopus 로고    scopus 로고
    • RNA repair using spliceosome-mediated RNA trans-splicing
    • Mansfield, S.G., Chao, H. and Walsh, C.E. (2004) RNA repair using spliceosome-mediated RNA trans-splicing. Trends Mol. Med., 10, 263-268.
    • (2004) Trends Mol. Med , vol.10 , pp. 263-268
    • Mansfield, S.G.1    Chao, H.2    Walsh, C.E.3
  • 32
    • 28444453994 scopus 로고    scopus 로고
    • Spliceosome-mediated RNA trans splicing
    • Yang, Y. and Walsh, C.E. (2005) Spliceosome-mediated RNA trans splicing. Mol. Ther., 12, 1006-1012.
    • (2005) Mol. Ther , vol.12 , pp. 1006-1012
    • Yang, Y.1    Walsh, C.E.2
  • 33
    • 27144477400 scopus 로고    scopus 로고
    • Gene therapy progress and prospects: Reprograming gene expression by trans-splicing
    • Mitchell, L.G. and McGarrity, G.J. (2005) Gene therapy progress and prospects: Reprograming 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
  • 34
    • 34447542621 scopus 로고    scopus 로고
    • Using 5′-PTMs to repair mutant β-globin transcripts
    • Kierlin-Duncan, M.N. and Sullenger, B.A. (2007) Using 5′-PTMs to repair mutant β-globin transcripts. RNA, 13, 1317-1327.
    • (2007) RNA , vol.13 , pp. 1317-1327
    • Kierlin-Duncan, M.N.1    Sullenger, B.A.2
  • 36
    • 34250739824 scopus 로고    scopus 로고
    • Correction of DNA protein kinase deficiency by spliceosome-mediated RNA trans-splicing and Sleeping Beauty transposon delivery
    • Zayed, H., Xia, L., Yerich, A., Yant, S.R., Kay, M.A., Puttaraju, M., McGarrity, G.J., Wiest, D.L., McIvor, R.S., Tolar, J. et al. (2007) Correction of DNA protein kinase deficiency by spliceosome-mediated RNA trans-splicing and Sleeping Beauty transposon delivery. Mol. Ther., 15, 1273-1279.
    • (2007) Mol. Ther , vol.15 , pp. 1273-1279
    • Zayed, H.1    Xia, L.2    Yerich, A.3    Yant, S.R.4    Kay, M.A.5    Puttaraju, M.6    McGarrity, G.J.7    Wiest, D.L.8    McIvor, R.S.9    Tolar, J.10
  • 37
    • 34547117851 scopus 로고    scopus 로고
    • Restoration of SMN function: Delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing
    • Coady, T.H., Shababi, M., Tullis, G.E. and Lorson, C.L. (2007) Restoration of SMN function: Delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Mol. Ther., 15, 1471-1478.
    • (2007) Mol. Ther , vol.15 , pp. 1471-1478
    • Coady, T.H.1    Shababi, M.2    Tullis, G.E.3    Lorson, C.L.4
  • 38
    • 55649102490 scopus 로고    scopus 로고
    • Development of a single vector system that enhances trans splicing of SMN2 transcripts
    • Coady, T.H., Baughan, T.D., Shababi, M., Passini, M.A. and Lorson, C.L. (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
  • 39
    • 60449086472 scopus 로고    scopus 로고
    • Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans splicing
    • Chen, H.Y., Kathirvel, P., Yee, W.C. and Lai, P.S. (2009) Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans splicing. Gene Ther., 16, 211-217.
    • (2009) Gene Ther , vol.16 , pp. 211-217
    • Chen, H.Y.1    Kathirvel, P.2    Yee, W.C.3    Lai, P.S.4
  • 40
    • 13644255422 scopus 로고    scopus 로고
    • Lentiviral vectors for treating and modeling human CNS disorders
    • Azzouz, M., Kingsman, S.M. and Mazarakis, N.D. (2004) Lentiviral vectors for treating and modeling human CNS disorders. J. Gene Med., 6 951-962.
    • (2004) J. Gene Med , vol.6 , pp. 951-962
    • Azzouz, M.1    Kingsman, S.M.2    Mazarakis, N.D.3
  • 43
    • 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, R.G., Kobayashi, H., Krause, A., Luettich, K., Lesser, M.L. and Crystal, R.G. (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
  • 44
    • 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, L.N., Yan, Z., Zak, R., Ding, W., Mansfield, S.G., Mitchell, L.G. and Engelhardt, J.F. (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
  • 46
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino, N.A. and Cooper, T.A. (2003) Pre-mRNA splicing and human disease. Genes Dev., 17, 419-437.
    • (2003) Genes Dev , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 49
    • 33749054403 scopus 로고    scopus 로고
    • Splicing regulation in neurologic disease
    • Licatalosi, D.D. and Darnell, R.B. (2006) Splicing regulation in neurologic disease. Neuron, 52, 93-101.
    • (2006) Neuron , vol.52 , pp. 93-101
    • Licatalosi, D.D.1    Darnell, R.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.