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Volumn 20, Issue 22, 2011, Pages 4334-4344

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HISTONE H2AX; PARVALBUMIN; PHOSPHOPROTEIN; VOLTAGE DEPENDENT ANION CHANNEL 2; VORINOSTAT;

EID: 80054880080     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr360     Document Type: Article
Times cited : (90)

References (62)
  • 1
    • 0018238065 scopus 로고
    • Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn, J. (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet., 15, 409-413.
    • (1978) J. Med. Genet. , vol.15 , pp. 409-413
    • Pearn, J.1
  • 2
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • Wirth, B. (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum. Mutat., 15, 228-237.
    • (2000) Hum. Mutat. , vol.15 , pp. 228-237
    • Wirth, B.1
  • 4
    • 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
  • 5
    • 77953893282 scopus 로고    scopus 로고
    • Spinal muscular atrophy: mechanisms and therapeutic strategies
    • Lorson, C.L., Rindt, H. and Shababi, M. (2010) Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum. Mol. Genet., 19, R111-R118.
    • (2010) Hum. Mol. Genet. , vol.19
    • Lorson, C.L.1    Rindt, H.2    Shababi, M.3
  • 7
    • 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
  • 8
    • 77949909934 scopus 로고    scopus 로고
    • Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy
    • Murray, L.M., Talbot, K. and Gillingwater, T.H. (2010) Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy. Neuropathol. Appl. Neurobiol., 36, 133-156.
    • (2010) Neuropathol. Appl. Neurobiol. , vol.36 , pp. 133-156
    • Murray, L.M.1    Talbot, K.2    Gillingwater, T.H.3
  • 9
    • 79959658484 scopus 로고    scopus 로고
    • The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy
    • Sleigh, J.N., Gillingwater, T.H. and Talbot, K. (2011) The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis. Model. Mech., 4, 457-467.
    • (2011) Dis. Model. Mech. , vol.4 , pp. 457-467
    • Sleigh, J.N.1    Gillingwater, T.H.2    Talbot, K.3
  • 10
    • 0025215242 scopus 로고
    • Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism
    • Fidziańska, A., Goebel, H.H. and Warlo, I. (1990) Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism. Brain, 113, 433-445.
    • (1990) Brain , vol.113 , pp. 433-445
    • Fidziańska, A.1    Goebel, H.H.2    Warlo, I.3
  • 11
    • 0030728994 scopus 로고    scopus 로고
    • Apoptosis-related proteins in skeletal muscle fibers of spinal muscular atrophy
    • Tews, D.S. and Goebel, H.H. (1997) Apoptosis-related proteins in skeletal muscle fibers of spinal muscular atrophy. J. Neuropathol. Exp. Neurol., 56, 150-156.
    • (1997) J. Neuropathol. Exp. Neurol. , vol.56 , pp. 150-156
    • Tews, D.S.1    Goebel, H.H.2
  • 12
    • 0036240957 scopus 로고    scopus 로고
    • Possible pathogenic role of muscle cell dysfunction in motor neuron death in spinal muscular atrophy
    • Guettier-Sigrist, S., Hugel, B., Coupin, G., Freyssinet, J.M., Poindron, P. and Warter, J.M. (2002) Possible pathogenic role of muscle cell dysfunction in motor neuron death in spinal muscular atrophy. Muscle Nerve, 25, 700-708.
    • (2002) Muscle Nerve , vol.25 , pp. 700-708
    • Guettier-Sigrist, S.1    Hugel, B.2    Coupin, G.3    Freyssinet, J.M.4    Poindron, P.5    Warter, J.M.6
  • 13
    • 37549049017 scopus 로고    scopus 로고
    • Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers
    • Stathas, D., Kalfakis, N., Kararizou, E. and Manta, P. (2008) Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers. Acta Histochem., 110, 53-58.
    • (2008) Acta Histochem , vol.110 , pp. 53-58
    • Stathas, D.1    Kalfakis, N.2    Kararizou, E.3    Manta, P.4
  • 14
    • 79957445159 scopus 로고    scopus 로고
    • Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophy
    • Dachs, E., Hereu, M., Piedrafita, L., Casanovas, A., Calderó, J. and Esquerda, J.E. (2011) Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophy. J. Neuropathol. Exp. Neurol., 70, 444-461.
    • (2011) J. Neuropathol. Exp. Neurol. , vol.70 , pp. 444-461
    • Dachs, E.1    Hereu, M.2    Piedrafita, L.3    Casanovas, A.4    Calderó, J.5    Esquerda, J.E.6
  • 17
    • 0028947081 scopus 로고
    • Constitutive muscular abnormalities in culture in spinal muscular atrophy
    • Braun, S., Croizat, B., Lagrange, M.C., Warter, J.M. and Poindron, P. (1995) Constitutive muscular abnormalities in culture in spinal muscular atrophy. Lancet, 345, 694-695.
    • (1995) Lancet , vol.345 , pp. 694-695
    • Braun, S.1    Croizat, B.2    Lagrange, M.C.3    Warter, J.M.4    Poindron, P.5
  • 18
    • 0030818309 scopus 로고    scopus 로고
    • Disturbances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy
    • Greensmith, L. and Vrbová, G. (1997) Disturbances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy. Neuromuscul. Disord., 7, 369-372.
    • (1997) Neuromuscul. Disord. , vol.7 , pp. 369-372
    • Greensmith, L.1    Vrbová, G.2
  • 21
    • 27344454223 scopus 로고    scopus 로고
    • Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology
    • Shafey, D., Côté, P.D. and Kothary, R. (2005) Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology. Exp. Cell Res., 311, 49-61.
    • (2005) Exp. Cell Res. , vol.311 , pp. 49-61
    • Shafey, D.1    Côté, P.D.2    Kothary, R.3
  • 22
    • 33947217787 scopus 로고    scopus 로고
    • A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle
    • Rajendra, T.K., Gonsalvez, G.B., Walker, M.P., Shpargel, K.B., Salz, H.K. and Matera, A.G. (2007) A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J. Cell Biol., 176, 831-841.
    • (2007) J. Cell Biol. , vol.176 , pp. 831-841
    • Rajendra, T.K.1    Gonsalvez, G.B.2    Walker, M.P.3    Shpargel, K.B.4    Salz, H.K.5    Matera, A.G.6
  • 23
    • 43749122366 scopus 로고    scopus 로고
    • Spinal muscular atrophy: motoneurone or muscle disease? Neuromuscul
    • Vrbova, G. (2008) Spinal muscular atrophy: motoneurone or muscle disease? Neuromuscul. Disord., 18, 81-82.
    • (2008) Disord , vol.18 , pp. 81-82
    • Vrbova, G.1
  • 26
    • 0041821398 scopus 로고    scopus 로고
    • Protein expression changes in spinal muscular atrophy revealed with a novel antibody array technology
    • Anderson, K., Potter, A., Baban, D. and Davies, K.E. (2003) Protein expression changes in spinal muscular atrophy revealed with a novel antibody array technology. Brain, 126, 2052-2064.
    • (2003) Brain , vol.126 , pp. 2052-2064
    • Anderson, K.1    Potter, A.2    Baban, D.3    Davies, K.E.4
  • 27
    • 0034639645 scopus 로고    scopus 로고
    • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(2/2) mice and results in a mouse with spinal muscular atrophy
    • Monani, U.R., Sendtner, M., Coovert, D.D., Parsons, D.W., Andreassi, C., Le, T.T., Jablonka, S., Schrank, B., Rossoll, W., Prior, T.W. et al. (2000) The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(2/2) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet., 9, 333-339.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 333-339
    • Monani, U.R.1    Sendtner, M.2    Coovert, D.D.3    Parsons, D.W.4    Andreassi, C.5    Le, T.T.6    Jablonka, S.7    Schrank, B.8    Rossoll, W.9    Prior, T.W.10
  • 28
    • 77957750125 scopus 로고    scopus 로고
    • Using mouse cranial muscles to investigate neuromuscular pathology in vivo
    • Murray, L.M., Gillingwater, T.H. and Parson, S.H. (2010) Using mouse cranial muscles to investigate neuromuscular pathology in vivo. Neuromuscul. Disord., 20, 740-743.
    • (2010) Neuromuscul. Disord. , vol.20 , pp. 740-743
    • Murray, L.M.1    Gillingwater, T.H.2    Parson, S.H.3
  • 29
    • 41149113045 scopus 로고    scopus 로고
    • Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
    • Murray, L.M., Comley, L.H., Thomson, D., Parkinson, N., Talbot, K. and Gillingwater, T.H. (2008) Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum. Mol. Genet., 17, 949-962.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 949-962
    • Murray, L.M.1    Comley, L.H.2    Thomson, D.3    Parkinson, N.4    Talbot, K.5    Gillingwater, T.H.6
  • 30
    • 77949889554 scopus 로고    scopus 로고
    • Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
    • Murray, L.M., Sheena, L., Bäumer, D., Parson, S.H., Talbot, K. and Gillingwater, T.H. (2010) Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum. Mol. Genet., 19, 420-433.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 420-433
    • Murray, L.M.1    Sheena, L.2    Bäumer, D.3    Parson, S.H.4    Talbot, K.5    Gillingwater, T.H.6
  • 32
    • 75749129049 scopus 로고    scopus 로고
    • Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice
    • Ruiz, R., Casañas, J.J., Torres-Benito, L., Cano, R. and Tabares, L. (2010) Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. J. Neurosci., 30, 849-857.
    • (2010) J. Neurosci. , vol.30 , pp. 849-857
    • Ruiz, R.1    Casañas, J.J.2    Torres-Benito, L.3    Cano, R.4    Tabares, L.5
  • 34
    • 70349973323 scopus 로고    scopus 로고
    • Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax
    • Yamagata, H., Shimizu, S., Nishida, Y., Watanabe, Y., Craigen, W.J. and Tsujimoto, Y. (2009) Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax. Oncogene, 28, 3563-3572.
    • (2009) Oncogene , vol.28 , pp. 3563-3572
    • Yamagata, H.1    Shimizu, S.2    Nishida, Y.3    Watanabe, Y.4    Craigen, W.J.5    Tsujimoto, Y.6
  • 35
  • 37
    • 29544435256 scopus 로고    scopus 로고
    • Proteomic analysis of rat laryngeal muscle following denervation
    • Li, Z., Lehar, M., Samlan, R. and Flint, P. (2005) Proteomic analysis of rat laryngeal muscle following denervation. Proteomics, 5, 4764-4776.
    • (2005) Proteomics , vol.5 , pp. 4764-4776
    • Li, Z.1    Lehar, M.2    Samlan, R.3    Flint, P.4
  • 38
    • 33745685992 scopus 로고    scopus 로고
    • Investigation of differentially expressed proteins in rat gastrocnemius muscle during denervation-reinnervation
    • Sun, H., Liu, J., Ding, F., Wang, X., Liu, M. and Gu, X. (2006) Investigation of differentially expressed proteins in rat gastrocnemius muscle during denervation-reinnervation. J. Muscle Res. Cell Motil., 27, 241-250.
    • (2006) J. Muscle Res. Cell Motil. , vol.27 , pp. 241-250
    • Sun, H.1    Liu, J.2    Ding, F.3    Wang, X.4    Liu, M.5    Gu, X.6
  • 39
    • 69949156922 scopus 로고    scopus 로고
    • Differential expression of sarcoplasmic and myofibrillar proteins of rat soleus muscle during denervation atrophy
    • Sato, Y., Shimizu, M., Mizunoya, W., Wariishi, H., Tatsumi, R., Buchman, V. and Ikeuchi, Y. (2009) Differential expression of sarcoplasmic and myofibrillar proteins of rat soleus muscle during denervation atrophy. Biosci. Biotechnol. Biochem., 73, 1748-1756.
    • (2009) Biosci. Biotechnol. Biochem. , vol.73 , pp. 1748-1756
    • Sato, Y.1    Shimizu, M.2    Mizunoya, W.3    Wariishi, H.4    Tatsumi, R.5    Buchman, V.6    Ikeuchi, Y.7
  • 40
    • 34447525490 scopus 로고    scopus 로고
    • Spinal muscular atrophy and therapeutic prospects
    • Wirth, B., Brichta, L. and Hahnen, E. (2006) Spinal muscular atrophy and therapeutic prospects. Prog. Mol. Subcell. Biol., 44, 109-132.
    • (2006) Prog. Mol. Subcell. Biol. , vol.44 , pp. 109-132
    • Wirth, B.1    Brichta, L.2    Hahnen, E.3
  • 42
    • 0023387512 scopus 로고
    • Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons
    • Henderson, C.E., Hauser, S.L., Huchet, M., Dessi, F., Hentati, F., Taguchi, T., Changeux, J.P. and Fardeau, M. (1987) Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons. Neurology, 37, 1361-1364.
    • (1987) Neurology , vol.37 , pp. 1361-1364
    • Henderson, C.E.1    Hauser, S.L.2    Huchet, M.3    Dessi, F.4    Hentati, F.5    Taguchi, T.6    Changeux, J.P.7    Fardeau, M.8
  • 45
  • 46
    • 33846663676 scopus 로고    scopus 로고
    • Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient
    • Zhang, Y., Ye, J., Chen, D., Zhao, X., Xiao, X., Tai, S., Yang, W. and Zhu, D. (2006) Differential expression profiling between the relative normal and dystrophic muscle tissues from the same LGMD patient. J. Transl. Med., 4, 53.
    • (2006) J. Transl. Med. , vol.4 , pp. 53
    • Zhang, Y.1    Ye, J.2    Chen, D.3    Zhao, X.4    Xiao, X.5    Tai, S.6    Yang, W.7    Zhu, D.8
  • 47
    • 58949089299 scopus 로고    scopus 로고
    • Galectin-1 expression in innervated and denervated skeletal muscle
    • Svensson, A. and Tågerud, S. (2009) Galectin-1 expression in innervated and denervated skeletal muscle. Cell. Mol. Biol. Lett., 14, 128-138.
    • (2009) Cell. Mol. Biol. Lett. , vol.14 , pp. 128-138
    • Svensson, A.1    Tågerud, S.2
  • 48
    • 79955722544 scopus 로고    scopus 로고
    • Mechanical stimuli on C2C12 myoblasts affect myoblast differentiation, focal adhesion kinase phosphorylation and galectin-1 expression: a proteomic approach
    • Grossi, A., Lametsch, R., Karlsson, A.H. and Lawson, M.A. (2011) Mechanical stimuli on C2C12 myoblasts affect myoblast differentiation, focal adhesion kinase phosphorylation and galectin-1 expression: a proteomic approach. Cell Biol. Int., 35, 579-586.
    • (2011) Cell Biol. Int. , vol.35 , pp. 579-586
    • Grossi, A.1    Lametsch, R.2    Karlsson, A.H.3    Lawson, M.A.4
  • 52
    • 73849084212 scopus 로고    scopus 로고
    • VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria
    • Roy, S.S., Ehrlich, A.M., Craigen, W.J. and Hajnóńczky, G. (2009) VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria. EMBO Rep., 10, 1341-1347.
    • (2009) EMBO Rep , vol.10 , pp. 1341-1347
    • Roy, S.S.1    Ehrlich, A.M.2    Craigen, W.J.3    Hajnóńczky, G.4
  • 54
    • 73149108205 scopus 로고    scopus 로고
    • Proteomic DIGE analysis of the mitochondria-enriched fraction from aged rat skeletal muscle
    • O'Connell, K. and Ohlendieck, K. (2009) Proteomic DIGE analysis of the mitochondria-enriched fraction from aged rat skeletal muscle. Proteomics, 9, 5509-5524.
    • (2009) Proteomics , vol.9 , pp. 5509-5524
    • O'Connell, K.1    Ohlendieck, K.2
  • 56
    • 0037020667 scopus 로고    scopus 로고
    • New aspects of calcium signaling in skeletal muscle cells: implications in Duchenne muscular dystrophy
    • Gailly, P. (2002) New aspects of calcium signaling in skeletal muscle cells: implications in Duchenne muscular dystrophy. Biochim. Biophys. Acta, 1600, 38-44.
    • (2002) Biochim. Biophys. Acta , vol.1600 , pp. 38-44
    • Gailly, P.1
  • 57
    • 33646009703 scopus 로고    scopus 로고
    • Design and function of superfast muscles: new insights into the physiology of skeletal muscle
    • Rome, L.C. (2006) Design and function of superfast muscles: new insights into the physiology of skeletal muscle. Annu. Rev. Physiol., 68, 193-221.
    • (2006) Annu. Rev. Physiol. , vol.68 , pp. 193-221
    • Rome, L.C.1
  • 62
    • 34548386721 scopus 로고    scopus 로고
    • Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene
    • Wishart, T.M., Paterson, J.M., Short, D.M., Meredith, S., Robertson, K.A., Sutherland, C., Cousin, M.A., Dutia, M.B. and Gillingwater, T.H. (2007) Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene. Mol. Cell. Proteomics, 6, 1318-1330.
    • (2007) Mol. Cell. Proteomics , vol.6 , pp. 1318-1330
    • Wishart, T.M.1    Paterson, J.M.2    Short, D.M.3    Meredith, S.4    Robertson, K.A.5    Sutherland, C.6    Cousin, M.A.7    Dutia, M.B.8    Gillingwater, T.H.9


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