메뉴 건너뛰기




Volumn 40, Issue 6, 2014, Pages 670-685

Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones

Author keywords

Amyotrophic lateral sclerosis; Microarray; mRNA; post mortem; Splicing; TDP 43

Indexed keywords

DNA BINDING PROTEIN; NUCLEAR PROTEIN; PROTEIN TDP-43;

EID: 84913597051     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12148     Document Type: Article
Times cited : (93)

References (48)
  • 2
    • 77649252528 scopus 로고    scopus 로고
    • Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis
    • Pesiridis GS, Lee VM, Trojanowski JQ. Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum Mol Genet 2009; 18: R156-162
    • (2009) Hum Mol Genet , vol.18 , pp. R156-R162
    • Pesiridis, G.S.1    Lee, V.M.2    Trojanowski, J.Q.3
  • 3
    • 84861929838 scopus 로고    scopus 로고
    • TDP-43: gumming up neurons through protein-protein and protein-RNA interactions
    • Buratti E, Baralle FE. TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem Sci 2012; 37: 237-247
    • (2012) Trends Biochem Sci , vol.37 , pp. 237-247
    • Buratti, E.1    Baralle, F.E.2
  • 4
    • 0035794665 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
    • Buratti E, Dork T, Zuccato E, Pagani F, Romano M, Baralle FE. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001; 20: 1774-1784
    • (2001) EMBO J , vol.20 , pp. 1774-1784
    • Buratti, E.1    Dork, T.2    Zuccato, E.3    Pagani, F.4    Romano, M.5    Baralle, F.E.6
  • 5
    • 27744554553 scopus 로고    scopus 로고
    • Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene
    • Mercado PA, Ayala YM, Romano M, Buratti E, Baralle FE. Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res 2005; 33: 6000-6010
    • (2005) Nucleic Acids Res , vol.33 , pp. 6000-6010
    • Mercado, P.A.1    Ayala, Y.M.2    Romano, M.3    Buratti, E.4    Baralle, F.E.5
  • 10
    • 56749098074 scopus 로고    scopus 로고
    • Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
    • Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet 2008; 40: 1413-1415
    • (2008) Nat Genet , vol.40 , pp. 1413-1415
    • Pan, Q.1    Shai, O.2    Lee, L.J.3    Frey, B.J.4    Blencowe, B.J.5
  • 14
    • 44049097065 scopus 로고    scopus 로고
    • A yeast TDP-43 proteinopathy model: exploring the molecular determinants of TDP-43 aggregation and cellular toxicity
    • Johnson BS, McCaffery JM, Lindquist S, Gitler AD. A yeast TDP-43 proteinopathy model: exploring the molecular determinants of TDP-43 aggregation and cellular toxicity. Proc Natl Acad Sci U S A 2008; 105: 6439-6444
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 6439-6444
    • Johnson, B.S.1    McCaffery, J.M.2    Lindquist, S.3    Gitler, A.D.4
  • 20
  • 21
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • da Huang W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 2009; 4: 44-57
    • (2009) Nat Protoc , vol.4 , pp. 44-57
    • da Huang, W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 22
    • 58549112996 scopus 로고    scopus 로고
    • Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
    • da Huang W, Sherman BT, Lempicki RA. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res 2009; 37: 1-13
    • (2009) Nucleic Acids Res , vol.37 , pp. 1-13
    • da Huang, W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 23
    • 84855261305 scopus 로고    scopus 로고
    • UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation
    • Passoni M, De Conti L, Baralle M, Buratti E. UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation. J Mol Biol 2012; 415: 46-60
    • (2012) J Mol Biol , vol.415 , pp. 46-60
    • Passoni, M.1    De Conti, L.2    Baralle, M.3    Buratti, E.4
  • 24
    • 84859361694 scopus 로고    scopus 로고
    • TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR
    • Fiesel FC, Weber SS, Supper J, Zell A, Kahle PJ. TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR. Nucleic Acids Res 2012; 40: 2668-2682
    • (2012) Nucleic Acids Res , vol.40 , pp. 2668-2682
    • Fiesel, F.C.1    Weber, S.S.2    Supper, J.3    Zell, A.4    Kahle, P.J.5
  • 25
    • 84892804110 scopus 로고    scopus 로고
    • Minor splicing pathway is not minor any more: implications for the pathogenesis of motor neuron diseases
    • Onodera O, Ishihara T, Shiga A, Ariizumi Y, Yokoseki A, Nishizawa M. Minor splicing pathway is not minor any more: implications for the pathogenesis of motor neuron diseases. Neuropathology 2013; 34: 99-107
    • (2013) Neuropathology , vol.34 , pp. 99-107
    • Onodera, O.1    Ishihara, T.2    Shiga, A.3    Ariizumi, Y.4    Yokoseki, A.5    Nishizawa, M.6
  • 27
    • 58849120190 scopus 로고    scopus 로고
    • Identifying and validating alternative splicing events: an introduction to managing data provided by GeneChip Exon Arrays
    • Available at:
    • Affymetrix. Identifying and validating alternative splicing events: an introduction to managing data provided by GeneChip Exon Arrays. 2006. Available at: http://media.affymetrix.com/support/technical/technotes/id_altsplicingevents_technote.pdf
    • (2006)
  • 31
    • 82355170711 scopus 로고    scopus 로고
    • Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology
    • Ince PG, Highley JR, Kirby J, Wharton SB, Takahashi H, Strong MJ, Shaw PJ. Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology. Acta Neuropathol 2011; 122: 657-671
    • (2011) Acta Neuropathol , vol.122 , pp. 657-671
    • Ince, P.G.1    Highley, J.R.2    Kirby, J.3    Wharton, S.B.4    Takahashi, H.5    Strong, M.J.6    Shaw, P.J.7
  • 32
    • 47749123020 scopus 로고    scopus 로고
    • Diseases of movement and system degenerations
    • Eds S Love, DN Louis, DW Ellison. London: Hodder Arnold
    • Ince PG, Clark B, Holton J, Revesz T, Wharton SB. Diseases of movement and system degenerations. In Greenfield's Neuropathology. Eds S Love, DN Louis, DW Ellison. London: Hodder Arnold, 2008; 889-1030
    • (2008) Greenfield's Neuropathology , pp. 889-1030
    • Ince, P.G.1    Clark, B.2    Holton, J.3    Revesz, T.4    Wharton, S.B.5
  • 33
    • 57049154231 scopus 로고    scopus 로고
    • Ageing and dementia
    • Eds S Love, DN Louis, DW Ellison. London: Hodder Arnold
    • Lowe J, Mirra SS, Hyman BT, Dickson D. Ageing and dementia. In Greenfield's Neuropathology. Eds S Love, DN Louis, DW Ellison. London: Hodder Arnold, 2008; 1031-1152
    • (2008) Greenfield's Neuropathology , pp. 1031-1152
    • Lowe, J.1    Mirra, S.S.2    Hyman, B.T.3    Dickson, D.4
  • 34
    • 68549111145 scopus 로고    scopus 로고
    • The spliceosome: a self-organized macromolecular machine in the nucleus?
    • Rino J, Carmo-Fonseca M. The spliceosome: a self-organized macromolecular machine in the nucleus? Trends Cell Biol 2009; 19: 375-384
    • (2009) Trends Cell Biol , vol.19 , pp. 375-384
    • Rino, J.1    Carmo-Fonseca, M.2
  • 35
    • 0035476520 scopus 로고    scopus 로고
    • A computational scan for U12-dependent introns in the human genome sequence
    • Levine A, Durbin R. A computational scan for U12-dependent introns in the human genome sequence. Nucleic Acids Res 2001; 29: 4006-4013
    • (2001) Nucleic Acids Res , vol.29 , pp. 4006-4013
    • Levine, A.1    Durbin, R.2
  • 37
    • 41549119007 scopus 로고    scopus 로고
    • Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
    • Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE 2007; 2: e921
    • (2007) PLoS ONE , vol.2 , pp. e921
    • Gabanella, F.1    Butchbach, M.E.2    Saieva, L.3    Carissimi, C.4    Burghes, A.H.5    Pellizzoni, L.6
  • 38
    • 43049168361 scopus 로고    scopus 로고
    • SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
    • Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, Dreyfuss G. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 2008; 133: 585-600
    • (2008) Cell , vol.133 , pp. 585-600
    • Zhang, Z.1    Lotti, F.2    Dittmar, K.3    Younis, I.4    Wan, L.5    Kasim, M.6    Dreyfuss, G.7
  • 39
    • 79957784833 scopus 로고    scopus 로고
    • Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly
    • Cho S, Hoang A, Sinha R, Zhong XY, Fu XD, Krainer AR, Ghosh G. Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly. Proc Natl Acad Sci U S A 2011; 108: 8233-8238
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 8233-8238
    • Cho, S.1    Hoang, A.2    Sinha, R.3    Zhong, X.Y.4    Fu, X.D.5    Krainer, A.R.6    Ghosh, G.7
  • 40
    • 0027090479 scopus 로고
    • U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon
    • Hoffman BE, Grabowski PJ. U1 snRNP targets an essential splicing factor, U2AF65, to the 3' splice site by a network of interactions spanning the exon. Genes Dev 1992; 6: 2554-2568
    • (1992) Genes Dev , vol.6 , pp. 2554-2568
    • Hoffman, B.E.1    Grabowski, P.J.2
  • 41
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 2004; 431: 931-945
    • (2004) Nature , vol.431 , pp. 931-945
  • 43
    • 84860513145 scopus 로고    scopus 로고
    • The spliceosome: a flexible, reversible macromolecular machine
    • Hoskins AA, Moore MJ. The spliceosome: a flexible, reversible macromolecular machine. Trends Biochem Sci 2012; 37: 179-188
    • (2012) Trends Biochem Sci , vol.37 , pp. 179-188
    • Hoskins, A.A.1    Moore, M.J.2
  • 45
    • 34247644400 scopus 로고    scopus 로고
    • High correspondence between Affymetrix exon and standard expression arrays
    • Okoniewski MJ, Hey Y, Pepper SD, Miller CJ. High correspondence between Affymetrix exon and standard expression arrays. Biotechniques 2007; 42: 181-185
    • (2007) Biotechniques , vol.42 , pp. 181-185
    • Okoniewski, M.J.1    Hey, Y.2    Pepper, S.D.3    Miller, C.J.4
  • 46
    • 77951777930 scopus 로고    scopus 로고
    • A comparison of massively parallel nucleotide sequencing with oligonucleotide microarrays for global transcription profiling
    • Bradford JR, Hey Y, Yates T, Li Y, Pepper SD, Miller CJ. A comparison of massively parallel nucleotide sequencing with oligonucleotide microarrays for global transcription profiling. BMC Genomics 2010; 11: 282
    • (2010) BMC Genomics , vol.11 , pp. 282
    • Bradford, J.R.1    Hey, Y.2    Yates, T.3    Li, Y.4    Pepper, S.D.5    Miller, C.J.6
  • 47
    • 84858439862 scopus 로고    scopus 로고
    • Insights into the regulation of protein abundance from proteomic and transcriptomic analyses
    • Vogel C, Marcotte EM. Insights into the regulation of protein abundance from proteomic and transcriptomic analyses. Nat Rev Genet 2012; 13: 227-232
    • (2012) Nat Rev Genet , vol.13 , pp. 227-232
    • Vogel, C.1    Marcotte, E.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.