메뉴 건너뛰기




Volumn 22, Issue 21, 2013, Pages 4368-4382

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSTROPHIN; TRANSCRIPTOME;

EID: 84885723361     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt287     Document Type: Article
Times cited : (129)

References (60)
  • 1
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffman, E.P., Brown, R.H. Jr and Kunkel, L.M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 51, 919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown Jr., R.H.2    Kunkel, L.M.3
  • 3
    • 79959297748 scopus 로고    scopus 로고
    • Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions
    • Spurney, C.F. (2011) Cardiomyopathy of Duchenne muscular dystrophy: current understanding and future directions. Muscle Nerve, 44, 8-19.
    • (2011) Muscle Nerve , vol.44 , pp. 8-19
    • Spurney, C.F.1
  • 5
    • 78650397994 scopus 로고    scopus 로고
    • New insights in gene-derived therapy: the example of Duchenne muscular dystrophy
    • Aartsma-Rus, A., den Dunnen, J.T. and van Ommen, G.J. (2010) New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Ann. N. Y. Acad. Sci., 1214, 199-212.
    • (2010) Ann. N. Y. Acad. Sci. , vol.1214 , pp. 199-212
    • Aartsma-Rus, A.1    den Dunnen, J.T.2    van Ommen, G.J.3
  • 6
    • 80051690306 scopus 로고    scopus 로고
    • Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
    • Cirak, S., Arechavala-Gomeza, V., Guglieri, M., Feng, L., Torelli, S., Anthony, K., Abbs, S., Garralda, M.E., Bourke, J., Wells, D.J. et al. (2011) Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet, 378, 595-605.
    • (2011) Lancet , vol.378 , pp. 595-605
    • Cirak, S.1    Arechavala-Gomeza, V.2    Guglieri, M.3    Feng, L.4    Torelli, S.5    Anthony, K.6    Abbs, S.7    Garralda, M.E.8    Bourke, J.9    Wells, D.J.10
  • 7
    • 84878016335 scopus 로고    scopus 로고
    • Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches
    • Fairclough, R.J., Wood, M.J., and Davies, K.E. (2013) Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat. Rev. Genet., 14, 373-378.
    • (2013) Nat. Rev. Genet. , vol.14 , pp. 373-378
    • Fairclough, R.J.1    Wood, M.J.2    Davies, K.E.3
  • 8
  • 9
    • 0029820310 scopus 로고    scopus 로고
    • Differential expression of dystrophin isoforms in strains of mdx mice with different mutations
    • Im, W.B., Phelps, S.F., Copen, E.H., Adams, E.G., Slightom, J.L., and Chamberlain, J.S. (1996) Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum. Mol. Genet., 5, 1149-1153.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1149-1153
    • Im, W.B.1    Phelps, S.F.2    Copen, E.H.3    Adams, E.G.4    Slightom, J.L.5    Chamberlain, J.S.6
  • 10
    • 0031577559 scopus 로고    scopus 로고
    • Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle Degeneration similar to that observed in Duchenne muscular dystrophy
    • Araki, E., Nakamura, K., Nakao, K., Kameya, S., Kobayashi, O., Nonaka, I., Kobayashi, T., and Katsuki, M. (1997) Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle Degeneration similar to that observed in Duchenne muscular dystrophy. Biochem. Biophys. Res. Commun., 238, 492-497.
    • (1997) Biochem. Biophys. Res. Commun. , vol.238 , pp. 492-497
    • Araki, E.1    Nakamura, K.2    Nakao, K.3    Kameya, S.4    Kobayashi, O.5    Nonaka, I.6    Kobayashi, T.7    Katsuki, M.8
  • 12
    • 79952210574 scopus 로고    scopus 로고
    • Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications
    • Nakamura, A., and Takeda, S. (2011) Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications. J. Biomed. Biotechnol., 2011, 184393.
    • (2011) J. Biomed. Biotechnol. , vol.2011 , pp. 184393
    • Nakamura, A.1    Takeda, S.2
  • 15
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    • Muntoni, F., Torelli, S., and Ferlini, A. (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol., 2, 731-740.
    • (2003) Lancet Neurol. , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 16
    • 0035487293 scopus 로고    scopus 로고
    • Recombineering: a powerful new tool for mouse functional genomics
    • Copeland, N.G., Jenkins, N.A., and Court, D.L. (2001) Recombineering: a powerful new tool for mouse functional genomics. Nat. Rev. Genet., 2, 769-779.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 769-779
    • Copeland, N.G.1    Jenkins, N.A.2    Court, D.L.3
  • 17
    • 0035168526 scopus 로고    scopus 로고
    • Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? Hum
    • Kerr, T.P., Sewry, C.A., Robb, S.A., and Roberts, R.G. (2001) Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? Hum. Genet., 109, 402-407.
    • (2001) Genet. , vol.109 , pp. 402-407
    • Kerr, T.P.1    Sewry, C.A.2    Robb, S.A.3    Roberts, R.G.4
  • 18
    • 33846271135 scopus 로고    scopus 로고
    • Dystrophin, its interactions with other proteins, and implications for muscular dystrophy
    • Ervasti, J.M. (2007) Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim. Biophys. Acta, 1772, 108-117.
    • (2007) Biochim. Biophys. Acta , vol.1772 , pp. 108-117
    • Ervasti, J.M.1
  • 19
    • 34347373294 scopus 로고    scopus 로고
    • Swine generated by somatic cell nuclear transfer have increased incidence of intrauterine growth restriction (IUGR)
    • Estrada, J., Sommer, J., Collins, B., Mir, B., Martin, A., York, A., Petters, R.M., and Piedrahita, J.A. (2007) Swine generated by somatic cell nuclear transfer have increased incidence of intrauterine growth restriction (IUGR). Cloning Stem Cells, 9, 229-236.
    • (2007) Cloning Stem Cells , vol.9 , pp. 229-236
    • Estrada, J.1    Sommer, J.2    Collins, B.3    Mir, B.4    Martin, A.5    York, A.6    Petters, R.M.7    Piedrahita, J.A.8
  • 20
    • 0036087342 scopus 로고    scopus 로고
    • Function and genetics of dystrophin and dystrophin-related proteins in muscle
    • Blake, D.J., Weir, A., Newey, S.E., and Davies, K.E. (2002) Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol. Rev., 82, 291-329.
    • (2002) Physiol. Rev. , vol.82 , pp. 291-329
    • Blake, D.J.1    Weir, A.2    Newey, S.E.3    Davies, K.E.4
  • 21
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • Huang da, W., Sherman, B.T., and Lempicki, R.A. (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc., 4, 44-57.
    • (2009) Nat. Protoc. , vol.4 , pp. 44-57
    • Huang da, 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
    • Huang da, W., Sherman, B.T., and Lempicki, R.A. (2009) Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res., 37, 1-13.
    • (2009) Nucleic Acids Res. , vol.37 , pp. 1-13
    • Huang da, W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 23
    • 79960610118 scopus 로고    scopus 로고
    • REVIGO summarizes and visualizes long lists of gene ontology terms
    • Supek, F., Bosnjak, M., Skunca, N., and Smuc, T. (2011) REVIGO summarizes and visualizes long lists of gene ontology terms. PLoS ONE, 6, e21800.
    • (2011) PLoS ONE , vol.6
    • Supek, F.1    Bosnjak, M.2    Skunca, N.3    Smuc, T.4
  • 24
    • 79551587720 scopus 로고    scopus 로고
    • Cytoscape 2.8: new features for data integration and network visualization.
    • Smoot, M.E., Ono, K., Ruscheinski, J., Wang, P.L., and Ideker, T. (2011) Cytoscape 2.8: new features for data integration and network visualization. Bioinformatics, 27, 431-432.
    • (2011) Bioinformatics , vol.27 , pp. 431-432
    • Smoot, M.E.1    Ono, K.2    Ruscheinski, J.3    Wang, P.L.4    Ideker, T.5
  • 25
    • 33947655852 scopus 로고    scopus 로고
    • Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression
    • Pescatori, M., Broccolini, A., Minetti, C., Bertini, E., Bruno, C., D'Amico, A., Bernardini, C., Mirabella, M., Silvestri, G., Giglio, V. et al. (2007) Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. FASEB J., 21, 1210-1226.
    • (2007) FASEB J. , vol.21 , pp. 1210-1226
    • Pescatori, M.1    Broccolini, A.2    Minetti, C.3    Bertini, E.4    Bruno, C.5    D'Amico, A.6    Bernardini, C.7    Mirabella, M.8    Silvestri, G.9    Giglio, V.10
  • 27
    • 0042131566 scopus 로고    scopus 로고
    • Dissection of temporal gene expression signatures of affected and spared muscle groups in dystrophin-deficient (mdx) mice
    • Porter, J.D., Merriam, A.P., Leahy, P., Gong, B., and Khanna, S. (2003) Dissection of temporal gene expression signatures of affected and spared muscle groups in dystrophin-deficient (mdx) mice. Hum. Mol. Genet., 12, 1813-1821.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1813-1821
    • Porter, J.D.1    Merriam, A.P.2    Leahy, P.3    Gong, B.4    Khanna, S.5
  • 29
    • 84870606130 scopus 로고    scopus 로고
    • Pronounced effects of acute endurance exercise on gene expression in resting and exercisinghumanskeletal muscle
    • Catoire, M., Mensink, M., Boekschoten, M.V., Hangelbroek, R., Muller, M., Schrauwen, P., and Kersten, S. (2012) Pronounced effects of acute endurance exercise on gene expression in resting and exercisinghumanskeletal muscle. PLoS ONE, 7, e51066.
    • (2012) PLoS ONE , vol.7
    • Catoire, M.1    Mensink, M.2    Boekschoten, M.V.3    Hangelbroek, R.4    Muller, M.5    Schrauwen, P.6    Kersten, S.7
  • 30
    • 34447279283 scopus 로고    scopus 로고
    • Mechanisms of skeletal muscle injury and repair revealed by gene expression studies in mouse models
    • Warren, G.L., Summan, M., Gao, X., Chapman, R., Hulderman, T., and Simeonova, P.P. (2007) Mechanisms of skeletal muscle injury and repair revealed by gene expression studies in mouse models. J. Physiol., 582, 825-841.
    • (2007) J. Physiol. , vol.582 , pp. 825-841
    • Warren, G.L.1    Summan, M.2    Gao, X.3    Chapman, R.4    Hulderman, T.5    Simeonova, P.P.6
  • 32
    • 73049105546 scopus 로고    scopus 로고
    • Modeling disease in human ESCs using an efficient BAC-based homologous recombination system
    • Song, H., Chung, S.-K., and Xu, Y. (2010) Modeling disease in human ESCs using an efficient BAC-based homologous recombination system. Cell Stem Cell, 6, 80-89.
    • (2010) Cell Stem Cell , vol.6 , pp. 80-89
    • Song, H.1    Chung, S.-K.2    Xu, Y.3
  • 34
    • 33846641694 scopus 로고    scopus 로고
    • Somatic cell nuclear transfer in pigs: recent achievements and future possibilities
    • Vajta, G., Zhang, Y., and Machaty, Z. (2007) Somatic cell nuclear transfer in pigs: recent achievements and future possibilities. Reprod. Fertil. Dev., 19, 403-423.
    • (2007) Reprod. Fertil. Dev. , vol.19 , pp. 403-423
    • Vajta, G.1    Zhang, Y.2    Machaty, Z.3
  • 36
    • 12744268414 scopus 로고    scopus 로고
    • Effects of stretch-activated channel blockers on [Ca2+]i and muscle damage in the mdx mouse
    • Yeung, E.W., Whitehead, N.P., Suchyna, T.M., Gottlieb, P.A., Sachs, F., and Allen, D.G. (2005) Effects of stretch-activated channel blockers on [Ca2+]i and muscle damage in the mdx mouse. J. Physiol., 562, 367-380.
    • (2005) J. Physiol. , vol.562 , pp. 367-380
    • Yeung, E.W.1    Whitehead, N.P.2    Suchyna, T.M.3    Gottlieb, P.A.4    Sachs, F.5    Allen, D.G.6
  • 38
    • 0029906168 scopus 로고    scopus 로고
    • Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene
    • Tinsley, J.M., Potter, A.C., Phelps, S.R., Fisher, R., Trickett, J.I., and Davies, K.E. (1996) Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature, 384, 349-353.
    • (1996) Nature , vol.384 , pp. 349-353
    • Tinsley, J.M.1    Potter, A.C.2    Phelps, S.R.3    Fisher, R.4    Trickett, J.I.5    Davies, K.E.6
  • 40
    • 0030848338 scopus 로고    scopus 로고
    • Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy
    • Grady, R.M., Teng, H., Nichol, M.C., Cunningham, J.C., Wilkinson, R.S., and Sanes, J.R. (1997) Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell, 90, 729-738.
    • (1997) Cell , vol.90 , pp. 729-738
    • Grady, R.M.1    Teng, H.2    Nichol, M.C.3    Cunningham, J.C.4    Wilkinson, R.S.5    Sanes, J.R.6
  • 41
    • 0033001067 scopus 로고    scopus 로고
    • Discordant expression of utrophin and its transcript in human and mouse skeletal muscles
    • Gramolini, A.O., Karpati, G., and Jasmin, B.J. (1999) Discordant expression of utrophin and its transcript in human and mouse skeletal muscles. J. Neuropathol. Exp. Neurol., 58, 235-244.
    • (1999) J. Neuropathol. Exp. Neurol. , vol.58 , pp. 235-244
    • Gramolini, A.O.1    Karpati, G.2    Jasmin, B.J.3
  • 42
    • 26944467581 scopus 로고    scopus 로고
    • A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours
    • Sewry, C.A., Nowak, K.J., Ehmsen, J.T., and Davies, K.E. (2005) A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours. Neuromuscul. Disord., 15, 779-785.
    • (2005) Neuromuscul. Disord. , vol.15 , pp. 779-785
    • Sewry, C.A.1    Nowak, K.J.2    Ehmsen, J.T.3    Davies, K.E.4
  • 44
    • 0036485777 scopus 로고    scopus 로고
    • Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies
    • Nguyen, F., Cherel, Y., Guigand, L., Goubault-Leroux, I., and Wyers, M. (2002) Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies. J. Comp. Pathol., 126, 100-108.
    • (2002) J. Comp. Pathol. , vol.126 , pp. 100-108
    • Nguyen, F.1    Cherel, Y.2    Guigand, L.3    Goubault-Leroux, I.4    Wyers, M.5
  • 45
    • 80053903736 scopus 로고    scopus 로고
    • Acute skeletal muscle injury: CCL2 expression by both monocytes and injured muscle is required for repair
    • Lu, H., Huang, D., Ransohoff, R.M., and Zhou, L. (2011) Acute skeletal muscle injury: CCL2 expression by both monocytes and injured muscle is required for repair. FASEB J., 25, 3344-3355.
    • (2011) FASEB J. , vol.25 , pp. 3344-3355
    • Lu, H.1    Huang, D.2    Ransohoff, R.M.3    Zhou, L.4
  • 46
    • 77954562869 scopus 로고    scopus 로고
    • Porcine models for the metabolic syndrome, digestive and bone disorders: a general overview
    • Litten-Brown, J.C., Corson, A.M., and Clarke, L. (2010) Porcine models for the metabolic syndrome, digestive and bone disorders: a general overview. Animal, 4, 899-920.
    • (2010) Animal , vol.4 , pp. 899-920
    • Litten-Brown, J.C.1    Corson, A.M.2    Clarke, L.3
  • 47
    • 0015634916 scopus 로고
    • Development of muscle fibers in the fetal pig
    • Ashmore, C.R., Addis, P.B., and Doerr, L. (1973) Development of muscle fibers in the fetal pig. J. Animal Sci., 36, 1088-1093.
    • (1973) J. Animal Sci. , vol.36 , pp. 1088-1093
    • Ashmore, C.R.1    Addis, P.B.2    Doerr, L.3
  • 48
    • 0023028097 scopus 로고
    • Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression
    • Karpati, G., and Carpenter, S. (1986) Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression. Am. J. Med. Genet., 25, 653-658.
    • (1986) Am. J. Med. Genet. , vol.25 , pp. 653-658
    • Karpati, G.1    Carpenter, S.2
  • 49
    • 79956095344 scopus 로고    scopus 로고
    • Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle disorders
    • Grounds, M.D., and Shavlakadze, T. (2011) Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle disorders. BioEssays, 33, 458-468.
    • (2011) BioEssays , vol.33 , pp. 458-468
    • Grounds, M.D.1    Shavlakadze, T.2
  • 52
    • 33645693598 scopus 로고    scopus 로고
    • Production of transgenic-clone pigs by the combination of ICSI-mediated gene transfer with somatic cell nuclear transfer
    • Kurome, M., Ueda, H., Tomii, R., Naruse, K., and Nagashima, H. (2006) Production of transgenic-clone pigs by the combination of ICSI-mediated gene transfer with somatic cell nuclear transfer. Transgenic Res., 15, 229-240.
    • (2006) Transgenic Res. , vol.15 , pp. 229-240
    • Kurome, M.1    Ueda, H.2    Tomii, R.3    Naruse, K.4    Nagashima, H.5
  • 53
    • 0345195958 scopus 로고    scopus 로고
    • Endoscopic embryocollectionand embryotransfer into the oviduct and the uterus of pigs
    • Besenfelder, U., Modl, J., Muller, M., and Brem, G. (1997) Endoscopic embryocollectionand embryotransfer into the oviduct and the uterus of pigs. Theriogenology, 47, 1051-1060.
    • (1997) Theriogenology , vol.47 , pp. 1051-1060
    • Besenfelder, U.1    Modl, J.2    Muller, M.3    Brem, G.4
  • 54
    • 65449136284 scopus 로고    scopus 로고
    • TopHat: discovering splice junctions with RNA-Seq
    • Trapnell, C., Pachter, L., and Salzberg, S.L. (2009) TopHat: discovering splice junctions with RNA-Seq. Bioinformatics, 25, 1105-1111.
    • (2009) Bioinformatics , vol.25 , pp. 1105-1111
    • Trapnell, C.1    Pachter, L.2    Salzberg, S.L.3
  • 56
    • 0037677436 scopus 로고    scopus 로고
    • Single section Western blot: improving the molecular diagnosis of the muscular dystrophies
    • Cooper, S.T., Lo, H.P., and North, K.N. (2003) Single section Western blot: improving the molecular diagnosis of the muscular dystrophies. Neurology, 61, 93-97.
    • (2003) Neurology , vol.61 , pp. 93-97
    • Cooper, S.T.1    Lo, H.P.2    North, K.N.3
  • 57
    • 0019819831 scopus 로고
    • Postembedding immunohistochemical demonstration of antigen in experimental polyarthritis using plastic embedded whole joints
    • Hermanns, W., Liebig, K., and Schulz, L.C. (1981) Postembedding immunohistochemical demonstration of antigen in experimental polyarthritis using plastic embedded whole joints. Histochemistry, 73, 439-446.
    • (1981) Histochemistry , vol.73 , pp. 439-446
    • Hermanns, W.1    Liebig, K.2    Schulz, L.C.3
  • 58
    • 84981459110 scopus 로고
    • Notes on the estimation of numerical density of arbitrary profiles: the edge effect
    • Oxford
    • Gundersen, H.J.G. (1977) Notes on the estimation of numerical density of arbitrary profiles: the edge effect. J. Microsc. Oxford, 111, 219-223.
    • (1977) J. Microsc. , vol.111 , pp. 219-223
    • Gundersen, H.J.G.1
  • 59
    • 4444305799 scopus 로고    scopus 로고
    • Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse
    • Briguet, A., Courdier-Fruh, I., Foster, M., Meier, T., and Magyar, J.P. (2004) Histological parameters for the quantitative assessment of muscular dystrophy in the mdx-mouse. Neuromuscl. Disord., 14, 675-682.
    • (2004) Neuromuscl. Disord. , vol.14 , pp. 675-682
    • Briguet, A.1    Courdier-Fruh, I.2    Foster, M.3    Meier, T.4    Magyar, J.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.