메뉴 건너뛰기




Volumn 41, Issue 6, 2013, Pages 1593-1597

The intriguing case of motor neuron disease: ALS and SMA come closer

Author keywords

Alternative splicing; Amyotrophic lateral sclerosis (ALS); Fused in sarcoma (FUS) motor neuron disease; RNA metabolism; Spinal muscular atrophy (SMA); Survival of motor neuron (SMN)

Indexed keywords

FUSED IN SARCOMA PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; MESSENGER RNA; RNA BINDING PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SURVIVAL MOTOR NEURON PROTEIN;

EID: 84887891531     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20130142     Document Type: Conference Paper
Times cited : (27)

References (54)
  • 1
    • 84875441083 scopus 로고    scopus 로고
    • The changing scene of amyotrophic lateral sclerosis
    • Robberecht, W. and Philips, T. (2013) The changing scene of amyotrophic lateral sclerosis. Nat. Rev. Neurosci. 14, 248-264
    • (2013) Nat. Rev. Neurosci. , vol.14 , pp. 248-264
    • Robberecht, W.1    Philips, T.2
  • 2
    • 84865654196 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis: New insights into underlying molecular mechanisms and opportunities for therapeutic intervention
    • Cozzolino, M., Pesaresi, M.G., Gerbino, V., Grosskreutz, J. and Carri, M.T. (2012) Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention. Antioxid. Redox Signaling 17, 1277-1330
    • (2012) Antioxid. Redox Signaling , vol.17 , pp. 1277-1330
    • Cozzolino, M.1    Pesaresi, M.G.2    Gerbino, V.3    Grosskreutz, J.4    Carri, M.T.5
  • 3
    • 45249106162 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Lunn, M.R. and Wang, C.H. (2008) Spinal muscular atrophy. Lancet 371, 2120-2133
    • (2008) Lancet , vol.371 , pp. 2120-2133
    • Lunn, M.R.1    Wang, C.H.2
  • 4
    • 84879881735 scopus 로고    scopus 로고
    • How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches
    • Wirth, B., Garbes, L. and Riessland, M. (2013) How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr. Opin. Genet. Dev. 23, 330-338
    • (2013) Curr. Opin. Genet. Dev. , vol.23 , pp. 330-338
    • Wirth, B.1    Garbes, L.2    Riessland, M.3
  • 5
    • 0021931762 scopus 로고
    • Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?
    • Towfighi, J., Young, R.S. and Ward, R.M. (1985) Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? Acta Neuropathol. 65, 270-280
    • (1985) Acta Neuropathol , vol.65 , pp. 270-280
    • Towfighi, J.1    Young, R.S.2    Ward, R.M.3
  • 7
    • 84858054407 scopus 로고    scopus 로고
    • Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction
    • Gogliotti, R.G., Quinlan, K.A., Barlow, C.B., Heier, C.R., Heckman, C.J. and Didonato, C.J. (2012) Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J. Neurosci. 32, 3818-3829
    • (2012) J. Neurosci. , vol.32 , pp. 3818-3829
    • Gogliotti, R.G.1    Quinlan, K.A.2    Barlow, C.B.3    Heier, C.R.4    Heckman, C.J.5    Didonato, C.J.6
  • 8
    • 77956603926 scopus 로고    scopus 로고
    • Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
    • Park, G.H., Maeno-Hikichi, Y., Awano, T., Landmesser, L.T. and Monani, U.R. (2010) Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J. Neurosci. 30, 12005-12019
    • (2010) J. Neurosci. , vol.30 , pp. 12005-12019
    • Park, G.H.1    Maeno-Hikichi, Y.2    Awano, T.3    Landmesser, L.T.4    Monani, U.R.5
  • 10
    • 84871718500 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Going beyond the motor neuron
    • Hamilton, G. and Gillingwater, T.H. (2013) Spinal muscular atrophy: going beyond the motor neuron. Trends. Mol. Med. 19, 40-50
    • (2013) Trends. Mol. Med. , vol.19 , pp. 40-50
    • Hamilton, G.1    Gillingwater, T.H.2
  • 11
    • 66049124365 scopus 로고    scopus 로고
    • The role of RNP biogenesis in spinal muscular atrophy
    • Chari, A., Paknia, E. and Fischer, U. (2009) The role of RNP biogenesis in spinal muscular atrophy. Curr. Opin. Cell Biol. 21, 387-393
    • (2009) Curr. Opin. Cell Biol. , vol.21 , pp. 387-393
    • Chari, A.1    Paknia, E.2    Fischer, U.3
  • 12
    • 70350569286 scopus 로고    scopus 로고
    • Mechanisms of alternative splicing regulation: Insights from molecular and genomics approaches
    • Chen, M. and Manley, J.L. (2009) Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat. Rev. Mol. Cell Biol. 10, 741-754
    • (2009) Nat. Rev. Mol. Cell Biol. , vol.10 , pp. 741-754
    • Chen, M.1    Manley, J.L.2
  • 13
    • 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. and Dreyfuss, G. (2008) SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 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
  • 16
    • 67651083390 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
    • Burghes, A.H. and Beattie, C.E. (2009) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat. Rev. Neurosci. 10, 597-609
    • (2009) Nat. Rev. Neurosci. , vol.10 , pp. 597-609
    • Burghes, A.H.1    Beattie, C.E.2
  • 17
    • 0345599021 scopus 로고    scopus 로고
    • Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
    • Rossoll, W., Jablonka, S., Andreassi, C., Kroning, A.K., Karle, K., Monani, U.R. and Sendtner, M. (2003) Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons. J. Cell Biol. 163, 801-812
    • (2003) J. Cell Biol. , vol.163 , pp. 801-812
    • Rossoll, W.1    Jablonka, S.2    Andreassi, C.3    Kroning, A.K.4    Karle, K.5    Monani, U.R.6    Sendtner, M.7
  • 24
    • 0032561190 scopus 로고    scopus 로고
    • Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing
    • Yang, L., Embree, L.J., Tsai, S. and Hickstein, D.D. (1998) Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing. J. Biol. Chem. 273, 27761-27764
    • (1998) J. Biol. Chem. , vol.273 , pp. 27761-27764
    • Yang, L.1    Embree, L.J.2    Tsai, S.3    Hickstein, D.D.4
  • 25
    • 0034053964 scopus 로고    scopus 로고
    • TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins
    • Yang, L., Embree, L.J. and Hickstein, D.D. (2000) TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins. Mol. Cell. Biol. 20, 3345-3354
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 3345-3354
    • Yang, L.1    Embree, L.J.2    Hickstein, D.D.3
  • 26
    • 84878131682 scopus 로고    scopus 로고
    • TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: Summary and update
    • Lattante, S., Rouleau, G.A. and Kabashi, E. (2013) TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. Hum. Mutat. 34, 812-826
    • (2013) Hum. Mutat. , vol.34 , pp. 812-826
    • Lattante, S.1    Rouleau, G.A.2    Kabashi, E.3
  • 27
    • 80053646130 scopus 로고    scopus 로고
    • Nuclear localization sequence of FUS and induction of stress granules by ALS mutants
    • Gal, J., Zhang, J., Kwinter, D.M., Zhai, J., Jia, H., Jia, J. and Zhu, H. (2011) Nuclear localization sequence of FUS and induction of stress granules by ALS mutants. Neurobiol. Aging 32, e2327-e2340
    • (2011) Neurobiol. Aging , vol.32
    • Gal, J.1    Zhang, J.2    Kwinter, D.M.3    Zhai, J.4    Jia, H.5    Jia, J.6    Zhu, H.7
  • 30
    • 0030596083 scopus 로고    scopus 로고
    • Molecular cloning and subcellular localisation of the snRNP-associated protein 69KD, a structural homologue of the proto-oncoproteins TLS and EWS with RNA and DNA-binding properties
    • Hackl, W. and Lührmann, R. (1996) Molecular cloning and subcellular localisation of the snRNP-associated protein 69KD, a structural homologue of the proto-oncoproteins TLS and EWS with RNA and DNA-binding properties. J. Mol. Biol. 264, 843-851
    • (1996) J. Mol. Biol. , vol.264 , pp. 843-851
    • Hackl, W.1    Lührmann, R.2
  • 34
    • 84877590417 scopus 로고    scopus 로고
    • Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm
    • Gerbino, V., Carri, M.T., Cozzolino, M. and Achsel, T. (2013) Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol. Dis. 55, 120-128
    • (2013) Neurobiol. Dis. , vol.55 , pp. 120-128
    • Gerbino, V.1    Carri, M.T.2    Cozzolino, M.3    Achsel, T.4
  • 36
    • 84861929838 scopus 로고    scopus 로고
    • TDP-43: Gumming up neurons through protein-protein and protein-RNA interactions
    • Buratti, E. and Baralle, F.E. (2012) TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem. Sci. 37, 237-247
    • (2012) Trends Biochem. Sci. , vol.37 , pp. 237-247
    • Buratti, E.1    Baralle, F.E.2
  • 37
    • 77958022745 scopus 로고    scopus 로고
    • Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice
    • Shan, X., Chiang, P.M., Price, D.L. and Wong, P.C. (2010) Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice. Proc. Natl. Acad. Sci. U.S.A. 107, 16325-16330
    • (2010) Proc. Natl. Acad. Sci. U.S.A. , vol.107 , pp. 16325-16330
    • Shan, X.1    Chiang, P.M.2    Price, D.L.3    Wong, P.C.4
  • 40
    • 84875981640 scopus 로고    scopus 로고
    • The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures
    • Reddy, K., Zamiri, B., Stanley, S.Y., Macgregor, Jr, R.B. and Pearson, C.E. (2013) The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. J. Biol. Chem. 288, 9860-9866
    • (2013) J. Biol. Chem. , vol.288 , pp. 9860-9866
    • Reddy, K.1    Zamiri, B.2    Stanley, S.Y.3    Macgregor Jr., R.B.4    Pearson, C.E.5
  • 41
    • 84871801926 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    • Fratta, P., Mizielinska, S., Nicoll, A.J., Zloh, M., Fisher, E.M., Parkinson, G. and Isaacs, A.M. (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci. Rep. 2, 1016
    • (2012) Sci. Rep. , vol.2 , pp. 1016
    • Fratta, P.1    Mizielinska, S.2    Nicoll, A.J.3    Zloh, M.4    Fisher, E.M.5    Parkinson, G.6    Isaacs, A.M.7
  • 46
    • 84874963127 scopus 로고    scopus 로고
    • HnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
    • Mori, K., Lammich, S., Mackenzie, I.R., Forne, I., Zilow, S., Kretzschmar, H., Edbauer, D., Janssens, J., Kleinberger, G., Cruts, M. et al. (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol. 125, 413-423
    • (2013) Acta Neuropathol , vol.125 , pp. 413-423
    • Mori, K.1    Lammich, S.2    Mackenzie, I.R.3    Forne, I.4    Zilow, S.5    Kretzschmar, H.6    Edbauer, D.7    Janssens, J.8    Kleinberger, G.9    Cruts, M.10
  • 48
    • 42449163952 scopus 로고    scopus 로고
    • TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor
    • Wang, I.F., Wu, L.S., Chang, H.Y. and Shen, C.K. (2008) TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor. J. Neurochem. 105, 797-806
    • (2008) J. Neurochem. , vol.105 , pp. 797-806
    • Wang, I.F.1    Wu, L.S.2    Chang, H.Y.3    Shen, C.K.4
  • 49
    • 30544448358 scopus 로고    scopus 로고
    • TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines
    • Fujii, R. and Takumi, T. (2005) TLS facilitates transport of mRNA encoding an actin-stabilizing protein to dendritic spines. J. Cell Sci. 118, 5755-5765
    • (2005) J. Cell Sci. , vol.118 , pp. 5755-5765
    • Fujii, R.1    Takumi, T.2
  • 51
    • 4143088149 scopus 로고    scopus 로고
    • Kinesin transports RNA: Isolation and characterization of an RNA-transporting granule
    • Kanai, Y., Dohmae, N. and Hirokawa, N. (2004) Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 43, 513-525
    • (2004) Neuron , vol.43 , pp. 513-525
    • Kanai, Y.1    Dohmae, N.2    Hirokawa, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.