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Volumn 316, Issue 18, 2010, Pages 3100-3108

Direct effects of the pathogenic mutation on satellite cell function in muscular dystrophy

Author keywords

Congenital muscular dystrophy; Muscular dystrophy; Satellite cell; Skeletal muscle; Stem cell

Indexed keywords

CELL ACTIVITY; CELL FUNCTION; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE EXPRESSION; GENE MUTATION; HOMEOSTASIS; HUMAN; MUSCLE ATROPHY; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MYOTONIC DYSTROPHY; NONHUMAN; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE SATELLITE CELL; ANIMAL; GENETICS; MUTATION; PATHOLOGY;

EID: 77957665581     PISSN: 00144827     EISSN: 10902422     Source Type: Journal    
DOI: 10.1016/j.yexcr.2010.05.014     Document Type: Review
Times cited : (69)

References (68)
  • 1
    • 0037160782 scopus 로고    scopus 로고
    • The muscular dystrophies
    • Emery A.E. The muscular dystrophies. Lancet 2002, 359:687-695.
    • (2002) Lancet , vol.359 , pp. 687-695
    • Emery, A.E.1
  • 2
    • 0015102314 scopus 로고
    • Satellite cells as the source of nuclei in muscles of growing rats
    • Moss F.P., Leblond C.P. Satellite cells as the source of nuclei in muscles of growing rats. Anat. Rec. 1971, 170:421-435.
    • (1971) Anat. Rec. , vol.170 , pp. 421-435
    • Moss, F.P.1    Leblond, C.P.2
  • 3
    • 0018113760 scopus 로고
    • Satellite cells are mitotically quiescent in mature mouse muscle: an EM and radioautographic study
    • Schultz E., Gibson M.C., Champion T. Satellite cells are mitotically quiescent in mature mouse muscle: an EM and radioautographic study. J. Exp. Zool. 1978, 206:451-456.
    • (1978) J. Exp. Zool. , vol.206 , pp. 451-456
    • Schultz, E.1    Gibson, M.C.2    Champion, T.3
  • 4
    • 0000642664 scopus 로고
    • Satellite cell of skeletal muscle fibers
    • Mauro A. Satellite cell of skeletal muscle fibers. J. Biophys. Biochem. Cytol. 1961, 9:493-495.
    • (1961) J. Biophys. Biochem. Cytol. , vol.9 , pp. 493-495
    • Mauro, A.1
  • 5
    • 55049103095 scopus 로고    scopus 로고
    • All muscle satellite cells are equal, but are some more equal than others?
    • Zammit P.S. All muscle satellite cells are equal, but are some more equal than others?. J. Cell Sci. 2008, 121:2975-2982.
    • (2008) J. Cell Sci. , vol.121 , pp. 2975-2982
    • Zammit, P.S.1
  • 6
    • 34247507672 scopus 로고    scopus 로고
    • Processing and assembly of the dystrophin glycoprotein complex
    • Allikian M.J., McNally E.M. Processing and assembly of the dystrophin glycoprotein complex. Traffic 2007, 8:177-183.
    • (2007) Traffic , vol.8 , pp. 177-183
    • Allikian, M.J.1    McNally, E.M.2
  • 7
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffman E.P., Brown R.H., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987, 51:919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 8
    • 77957668775 scopus 로고    scopus 로고
    • Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects
    • Sandona D., Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert Rev. Mol. Med. 2009, 11:e28.
    • (2009) Expert Rev. Mol. Med. , vol.11
    • Sandona, D.1    Betto, R.2
  • 9
    • 0025646136 scopus 로고
    • Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: implications for cell and gene therapy
    • Webster C., Blau H.M. Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: implications for cell and gene therapy. Somat. Cell. Mol. Genet. 1990, 16:557-565.
    • (1990) Somat. Cell. Mol. Genet. , vol.16 , pp. 557-565
    • Webster, C.1    Blau, H.M.2
  • 11
    • 0025687705 scopus 로고
    • X-irradiation improves mdx mouse muscle as a model of myofiber loss in DMD
    • Wakeford S., Watt D.J., Partridge T.A. X-irradiation improves mdx mouse muscle as a model of myofiber loss in DMD. Muscle Nerve 1991, 14:42-50.
    • (1991) Muscle Nerve , vol.14 , pp. 42-50
    • Wakeford, S.1    Watt, D.J.2    Partridge, T.A.3
  • 12
    • 70450223119 scopus 로고    scopus 로고
    • Muscle satellite cells are a functionally heterogeneous population in both somite-derived and branchiomeric muscles
    • Ono Y., Boldrin L., Knopp P., Morgan J.E., Zammit P.S. Muscle satellite cells are a functionally heterogeneous population in both somite-derived and branchiomeric muscles. Dev. Biol. 2010, 337:29-41.
    • (2010) Dev. Biol. , vol.337 , pp. 29-41
    • Ono, Y.1    Boldrin, L.2    Knopp, P.3    Morgan, J.E.4    Zammit, P.S.5
  • 18
    • 0029582766 scopus 로고
    • Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo
    • Schuler F., Sorokin L.M. Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo. J. Cell Sci. 1995, 108(Pt 12):3795-3805.
    • (1995) J. Cell Sci. , vol.108 , Issue.PART 12 , pp. 3795-3805
    • Schuler, F.1    Sorokin, L.M.2
  • 19
    • 0033391990 scopus 로고    scopus 로고
    • Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency
    • Kuang W., Xu H., Vilquin J.T., Engvall E. Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. Lab. Invest. 1999, 79:1601-1613.
    • (1999) Lab. Invest. , vol.79 , pp. 1601-1613
    • Kuang, W.1    Xu, H.2    Vilquin, J.T.3    Engvall, E.4
  • 20
    • 85047693919 scopus 로고    scopus 로고
    • Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
    • Girgenrath M., Dominov J.A., Kostek C.A., Miller J.B. Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. J. Clin. Invest. 2004, 114:1635-1639.
    • (2004) J. Clin. Invest. , vol.114 , pp. 1635-1639
    • Girgenrath, M.1    Dominov, J.A.2    Kostek, C.A.3    Miller, J.B.4
  • 21
    • 26444556514 scopus 로고    scopus 로고
    • Diseased muscles that lack dystrophin or laminin-alpha2 have altered compositions and proliferation of mononuclear cell populations
    • Girgenrath M., Kostek C.A., Miller J.B. Diseased muscles that lack dystrophin or laminin-alpha2 have altered compositions and proliferation of mononuclear cell populations. BMC Neurol. 2005, 5:7.
    • (2005) BMC Neurol. , vol.5 , pp. 7
    • Girgenrath, M.1    Kostek, C.A.2    Miller, J.B.3
  • 22
    • 0029794008 scopus 로고    scopus 로고
    • Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival
    • Vachon P.H., Loechel F., Xu H., Wewer U.M., Engvall E. Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. J. Cell Biol. 1996, 134:1483-1497.
    • (1996) J. Cell Biol. , vol.134 , pp. 1483-1497
    • Vachon, P.H.1    Loechel, F.2    Xu, H.3    Wewer, U.M.4    Engvall, E.5
  • 25
    • 65349083171 scopus 로고    scopus 로고
    • Further characterisation of the molecular signature of quiescent and activated mouse muscle satellite cells
    • Gnocchi V.F., White R.B., Ono Y., Ellis J.A., Zammit P.S. Further characterisation of the molecular signature of quiescent and activated mouse muscle satellite cells. PLoS ONE 2009, 4:e5205.
    • (2009) PLoS ONE , vol.4
    • Gnocchi, V.F.1    White, R.B.2    Ono, Y.3    Ellis, J.A.4    Zammit, P.S.5
  • 26
  • 27
    • 58749111103 scopus 로고    scopus 로고
    • Fraying at the edge mouse models of diseases resulting from defects at the nuclear periphery
    • Cohen T.V., Stewart C.L. Fraying at the edge mouse models of diseases resulting from defects at the nuclear periphery. Curr. Top. Dev. Biol. 2008, 84:351-384.
    • (2008) Curr. Top. Dev. Biol. , vol.84 , pp. 351-384
    • Cohen, T.V.1    Stewart, C.L.2
  • 29
    • 60149086623 scopus 로고    scopus 로고
    • Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
    • Ackroyd M.R., Skordis L., Kaluarachchi M., Godwin J., Prior S., Fidanboylu M., Piercy R.J., Muntoni F., Brown S.C. Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain 2009, 132:439-451.
    • (2009) Brain , vol.132 , pp. 439-451
    • Ackroyd, M.R.1    Skordis, L.2    Kaluarachchi, M.3    Godwin, J.4    Prior, S.5    Fidanboylu, M.6    Piercy, R.J.7    Muntoni, F.8    Brown, S.C.9
  • 30
    • 0036799939 scopus 로고    scopus 로고
    • Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders
    • Holzfeind P.J., Grewal P.K., Reitsamer H.A., Kechvar J., Lassmann H., Hoeger H., Hewitt J.E., Bittner R.E. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders. Hum. Mol. Genet. 2002, 11:2673-2687.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2673-2687
    • Holzfeind, P.J.1    Grewal, P.K.2    Reitsamer, H.A.3    Kechvar, J.4    Lassmann, H.5    Hoeger, H.6    Hewitt, J.E.7    Bittner, R.E.8
  • 31
    • 76449114620 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in laminopathies: how does fate translate?
    • Scharner J., Gnocchi V.F., Ellis J.A., Zammit P.S. Genotype-phenotype correlations in laminopathies: how does fate translate?. Biochem. Soc. Trans. 2010, 38:257-262.
    • (2010) Biochem. Soc. Trans. , vol.38 , pp. 257-262
    • Scharner, J.1    Gnocchi, V.F.2    Ellis, J.A.3    Zammit, P.S.4
  • 32
    • 33845286555 scopus 로고    scopus 로고
    • Human laminopathies: nuclei gone genetically awry
    • Capell B.C., Collins F.S. Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. 2006, 7:940-952.
    • (2006) Nat. Rev. Genet. , vol.7 , pp. 940-952
    • Capell, B.C.1    Collins, F.S.2
  • 33
    • 85047692354 scopus 로고    scopus 로고
    • How do mutations in lamins A and C cause disease?
    • Worman H.J., Courvalin J.C. How do mutations in lamins A and C cause disease?. J. Clin. Invest. 2004, 113:349-351.
    • (2004) J. Clin. Invest. , vol.113 , pp. 349-351
    • Worman, H.J.1    Courvalin, J.C.2
  • 34
    • 33745742599 scopus 로고    scopus 로고
    • Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy
    • Holaska J.M., Wilson K.L. Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. Anat. Rec. A Discov. Mol. Cell. Evol. Biol. 2006, 288:676-680.
    • (2006) Anat. Rec. A Discov. Mol. Cell. Evol. Biol. , vol.288 , pp. 676-680
    • Holaska, J.M.1    Wilson, K.L.2
  • 35
    • 14044265165 scopus 로고    scopus 로고
    • Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro
    • Markiewicz E., Ledran M., Hutchison C.J. Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro. J. Cell Sci. 2005, 118:409-420.
    • (2005) J. Cell Sci. , vol.118 , pp. 409-420
    • Markiewicz, E.1    Ledran, M.2    Hutchison, C.J.3
  • 36
    • 33748035693 scopus 로고    scopus 로고
    • PRb: master of differentiation. Coupling irreversible cell cycle withdrawal with induction of muscle-specific transcription
    • De Falco G., Comes F., Simone C. pRb: master of differentiation. Coupling irreversible cell cycle withdrawal with induction of muscle-specific transcription. Oncogene 2006, 25:5244-5249.
    • (2006) Oncogene , vol.25 , pp. 5244-5249
    • De Falco, G.1    Comes, F.2    Simone, C.3
  • 38
    • 0842347426 scopus 로고    scopus 로고
    • Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts
    • Favreau C., Higuet D., Courvalin J.C., Buendia B. Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. Mol. Cell. Biol. 2004, 24:1481-1492.
    • (2004) Mol. Cell. Biol. , vol.24 , pp. 1481-1492
    • Favreau, C.1    Higuet, D.2    Courvalin, J.C.3    Buendia, B.4
  • 41
    • 33846440511 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies
    • Abu-Baker A., Rouleau G.A. Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. Biochim. Biophys. Acta 2007, 1772:173-185.
    • (2007) Biochim. Biophys. Acta , vol.1772 , pp. 173-185
    • Abu-Baker, A.1    Rouleau, G.A.2
  • 42
    • 33750440221 scopus 로고    scopus 로고
    • Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: therapeutic perspectives of autologous myoblast transplantation
    • Perie S., Mamchaoui K., Mouly V., Blot S., Bouazza B., Thornell L.E., St Guily J.L., Butler-Browne G. Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: therapeutic perspectives of autologous myoblast transplantation. Neuromuscul. Disord. 2006, 16:770-781.
    • (2006) Neuromuscul. Disord. , vol.16 , pp. 770-781
    • Perie, S.1    Mamchaoui, K.2    Mouly, V.3    Blot, S.4    Bouazza, B.5    Thornell, L.E.6    St Guily, J.L.7    Butler-Browne, G.8
  • 43
    • 20944432778 scopus 로고    scopus 로고
    • Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice
    • Davies J.E., Wang L., Garcia-Oroz L., Cook L.J., Vacher C., O'Donovan D.G., Rubinsztein D.C. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat. Med. 2005, 11:672-677.
    • (2005) Nat. Med. , vol.11 , pp. 672-677
    • Davies, J.E.1    Wang, L.2    Garcia-Oroz, L.3    Cook, L.J.4    Vacher, C.5    O'Donovan, D.G.6    Rubinsztein, D.C.7
  • 45
    • 30144442961 scopus 로고    scopus 로고
    • Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis
    • Wang Q., Bag J. Ectopic expression of a polyalanine expansion mutant of poly(A)-binding protein N1 in muscle cells in culture inhibits myogenesis. Biochem. Biophys. Res. Commun. 2006, 340:815-822.
    • (2006) Biochem. Biophys. Res. Commun. , vol.340 , pp. 815-822
    • Wang, Q.1    Bag, J.2
  • 54
    • 0037468461 scopus 로고    scopus 로고
    • Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
    • Yip D.J., Picketts D.J. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett. 2003, 537:133-138.
    • (2003) FEBS Lett. , vol.537 , pp. 133-138
    • Yip, D.J.1    Picketts, D.J.2
  • 56
    • 0028794822 scopus 로고
    • Normal variation at the myotonic dystrophy locus in global human populations
    • Zerylnick C., Torroni A., Sherman S.L., Warren S.T. Normal variation at the myotonic dystrophy locus in global human populations. Am. J. Hum. Genet. 1995, 56:123-130.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 123-130
    • Zerylnick, C.1    Torroni, A.2    Sherman, S.L.3    Warren, S.T.4
  • 57
    • 33846318219 scopus 로고    scopus 로고
    • Myotonic dystrophy: emerging mechanisms for DM1 and DM2
    • Cho D.H., Tapscott S.J. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim. Biophys. Acta 2007, 1772:195-204.
    • (2007) Biochim. Biophys. Acta , vol.1772 , pp. 195-204
    • Cho, D.H.1    Tapscott, S.J.2
  • 63
    • 0345505665 scopus 로고    scopus 로고
    • Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy
    • Furling D., Lam le T., Agbulut O., Butler-Browne G.S., Morris G.E. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Am. J. Pathol. 2003, 162:1001-1009.
    • (2003) Am. J. Pathol. , vol.162 , pp. 1001-1009
    • Furling, D.1    Lam le, T.2    Agbulut, O.3    Butler-Browne, G.S.4    Morris, G.E.5
  • 66
    • 77649309210 scopus 로고    scopus 로고
    • Dynamics of muscle fibre growth during postnatal mouse development
    • White R.B., Bierinx A.S., Gnocchi V.F., Zammit P.S. Dynamics of muscle fibre growth during postnatal mouse development. BMC Dev. Biol. 2010, 10:21.
    • (2010) BMC Dev. Biol. , vol.10 , pp. 21
    • White, R.B.1    Bierinx, A.S.2    Gnocchi, V.F.3    Zammit, P.S.4
  • 67
    • 67949085111 scopus 로고    scopus 로고
    • Adult satellite cells and embryonic muscle progenitors have distinct genetic requirements
    • Lepper C., Conway S.J., Fan C.M. Adult satellite cells and embryonic muscle progenitors have distinct genetic requirements. Nature 2009, 460:627-631.
    • (2009) Nature , vol.460 , pp. 627-631
    • Lepper, C.1    Conway, S.J.2    Fan, C.M.3


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