메뉴 건너뛰기




Volumn 14, Issue 1-2, 2010, Pages 275-289

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects

Author keywords

Cellular model; Facioscapulohumeral dystrophy (FSHD); Muscle differentiation; Myoblasts; Oxidative stress

Indexed keywords

ADOLESCENT; ADULT; ANIMAL; ARTICLE; CELL CULTURE; CELL DIFFERENTIATION; CELL FUSION; CELL PROLIFERATION; CELL SHAPE; CYTOLOGY; CYTOSKELETON; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE EXPRESSION REGULATION; HUMAN; MALE; METABOLISM; MIDDLE AGED; MYOBLAST; OXIDATIVE STRESS; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SKELETAL MUSCLE;

EID: 77951954873     PISSN: 15821838     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1582-4934.2008.00368.x     Document Type: Article
Times cited : (104)

References (39)
  • 1
    • 0027744223 scopus 로고
    • FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
    • van Deutekom JC, Wijmenga C, van Tienhoven EA. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993, 2:2037-42.
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • van Deutekom, J.C.1    Wijmenga, C.2    van Tienhoven, E.A.3
  • 2
    • 0028925370 scopus 로고
    • Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
    • Lee JH, Goto K, Matsuda C. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve 1995, 2:S6-13.
    • (1995) Muscle Nerve , vol.2
    • Lee, J.H.1    Goto, K.2    Matsuda, C.3
  • 3
    • 0028959638 scopus 로고
    • Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy
    • Lunt PW, Jardine PE, Koch M. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve 1995, 2:S103-9.
    • (1995) Muscle Nerve , vol.2
    • Lunt, P.W.1    Jardine, P.E.2    Koch, M.3
  • 4
    • 0028153917 scopus 로고
    • Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions
    • Wijmenga C, van Deutekom JC, Hewitt JE. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. Genomics 1994, 19:21-6.
    • (1994) Genomics , vol.19 , pp. 21-26
    • Wijmenga, C.1    van Deutekom, J.C.2    Hewitt, J.E.3
  • 5
    • 0029038951 scopus 로고
    • Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
    • Lunt PW, Jardine PE, Koch MC. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995, 4:951-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 951-958
    • Lunt, P.W.1    Jardine, P.E.2    Koch, M.C.3
  • 6
    • 0029984970 scopus 로고    scopus 로고
    • Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group
    • Tawil R, Forrester J, Griggs RC. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol 1996, 39:744-8.
    • (1996) Ann Neurol , vol.39 , pp. 744-748
    • Tawil, R.1    Forrester, J.2    Griggs, R.C.3
  • 7
    • 25444435141 scopus 로고    scopus 로고
    • Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
    • van Overveld PG, Enthoven L, Ricci E. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol 2005, 58:569-76.
    • (2005) Ann Neurol , vol.58 , pp. 569-576
    • van Overveld, P.G.1    Enthoven, L.2    Ricci, E.3
  • 8
    • 0037047439 scopus 로고    scopus 로고
    • Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle
    • Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002, 110:339-48.
    • (2002) Cell , vol.110 , pp. 339-348
    • Gabellini, D.1    Green, M.R.2    Tupler, R.3
  • 9
    • 33644522383 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
    • Gabellini D, D'Antona G, Moggio M. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006, 439:973-7.
    • (2006) Nature , vol.439 , pp. 973-977
    • Gabellini, D.1    D'Antona, G.2    Moggio, M.3
  • 10
    • 0345227304 scopus 로고    scopus 로고
    • Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
    • Jiang G, Yang F, van Overveld PG. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet 2003, 12:2909-21.
    • (2003) Hum Mol Genet , vol.12 , pp. 2909-2921
    • Jiang, G.1    Yang, F.2    van Overveld, P.G.3
  • 11
    • 0344875044 scopus 로고    scopus 로고
    • Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
    • Winokur ST, Chen YW, Masny PS. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet 2003, 12:2895-907.
    • (2003) Hum Mol Genet , vol.12 , pp. 2895-2907
    • Winokur, S.T.1    Chen, Y.W.2    Masny, P.S.3
  • 12
    • 0344436078 scopus 로고    scopus 로고
    • Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
    • Gabriels J, Beckers MC, Ding H. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 1999, 236:25-32.
    • (1999) Gene , vol.236 , pp. 25-32
    • Gabriels, J.1    Beckers, M.C.2    Ding, H.3
  • 13
    • 34447104322 scopus 로고    scopus 로고
    • The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
    • Kowaljow V, Marcowycz A, Ansseau E. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord 2007, 17:611-23.
    • (2007) Neuromuscul Disord , vol.17 , pp. 611-623
    • Kowaljow, V.1    Marcowycz, A.2    Ansseau, E.3
  • 14
    • 36749026295 scopus 로고    scopus 로고
    • DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
    • Dixit M, Ansseau E, Tassin A. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 2007, 104:18157-62.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 18157-18162
    • Dixit, M.1    Ansseau, E.2    Tassin, A.3
  • 15
    • 0031708755 scopus 로고    scopus 로고
    • Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements
    • Ding H, Beckers MC, Plaisance S. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements. Hum Mol Genet 1998, 7:1681-94.
    • (1998) Hum Mol Genet , vol.7 , pp. 1681-1694
    • Ding, H.1    Beckers, M.C.2    Plaisance, S.3
  • 16
    • 38049094992 scopus 로고    scopus 로고
    • A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy
    • Petrov A, Allinne J, Pirozhkova I. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res 2008, 18:39-45.
    • (2008) Genome Res , vol.18 , pp. 39-45
    • Petrov, A.1    Allinne, J.2    Pirozhkova, I.3
  • 17
    • 33646485687 scopus 로고    scopus 로고
    • Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
    • Petrov A, Pirozhkova I, Carnac G. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc Natl Acad Sci USA 2006, 103:6982-7.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 6982-6987
    • Petrov, A.1    Pirozhkova, I.2    Carnac, G.3
  • 18
    • 35348907287 scopus 로고    scopus 로고
    • Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
    • Lemmers RJ, Wohlgemuth M, van der Gaag KJ. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007, 81:884-94.
    • (2007) Am J Hum Genet , vol.81 , pp. 884-894
    • Lemmers, R.J.1    Wohlgemuth, M.2    van der Gaag, K.J.3
  • 20
    • 0043095483 scopus 로고    scopus 로고
    • Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
    • Winokur ST, Barrett K, Martin JH. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord 2003, 13:322-3.
    • (2003) Neuromuscul Disord , vol.13 , pp. 322-323
    • Winokur, S.T.1    Barrett, K.2    Martin, J.H.3
  • 21
    • 27944486698 scopus 로고    scopus 로고
    • Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients
    • Vilquin JT, Marolleau JP, Sacconi S. Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients. Gene Ther 2005, 12:1651-62.
    • (2005) Gene Ther , vol.12 , pp. 1651-1662
    • Vilquin, J.T.1    Marolleau, J.P.2    Sacconi, S.3
  • 22
    • 0034840218 scopus 로고    scopus 로고
    • Improved characterization of FSHD mutations
    • Zhang Y, Forner J, Fournet S. Improved characterization of FSHD mutations. Ann Genet 2001, 44:105-10.
    • (2001) Ann Genet , vol.44 , pp. 105-110
    • Zhang, Y.1    Forner, J.2    Fournet, S.3
  • 23
    • 14144251354 scopus 로고    scopus 로고
    • Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans
    • Thomas C, Perrey S, Lambert K. Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans. J Appl Physiol 2005, 98:804-9.
    • (2005) J Appl Physiol , vol.98 , pp. 804-809
    • Thomas, C.1    Perrey, S.2    Lambert, K.3
  • 24
    • 9244255831 scopus 로고    scopus 로고
    • Relationships between maximal muscle oxidative capacity and blood lactate removal after supramaximal exercise and fatigue indexes in humans
    • Thomas C, Sirvent P, Perrey S. Relationships between maximal muscle oxidative capacity and blood lactate removal after supramaximal exercise and fatigue indexes in humans. J Appl Physiol 2004, 97:2132-8.
    • (2004) J Appl Physiol , vol.97 , pp. 2132-2138
    • Thomas, C.1    Sirvent, P.2    Perrey, S.3
  • 25
    • 33746541115 scopus 로고    scopus 로고
    • Inhibition of Notch signaling induces myotube hypertrophy by recruiting a subpopulation of reserve cells
    • Kitzmann M, Bonnieu A, Duret C. Inhibition of Notch signaling induces myotube hypertrophy by recruiting a subpopulation of reserve cells. J Cell Physiol 2006, 208:538-48.
    • (2006) J Cell Physiol , vol.208 , pp. 538-548
    • Kitzmann, M.1    Bonnieu, A.2    Duret, C.3
  • 26
    • 34248191209 scopus 로고    scopus 로고
    • MRI Cell Image Analyzer--A visual scripting interface for ImageJ and its usage at the microscopy facility Montpellier RIO Imaging
    • Baecker V, Travo P. MRI Cell Image Analyzer--A visual scripting interface for ImageJ and its usage at the microscopy facility Montpellier RIO Imaging. 105-10. pp.
    • Baecker, V.1    Travo, P.2
  • 27
    • 0038773214 scopus 로고
    • Replicating myoblasts express a muscle-specific phenotype
    • Kaufman SJ, Foster RF. Replicating myoblasts express a muscle-specific phenotype. Proc Natl Acad Sci USA 1988, 85:9606-10.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 9606-9610
    • Kaufman, S.J.1    Foster, R.F.2
  • 28
    • 4043145777 scopus 로고    scopus 로고
    • Human adult craniofacial muscle-derived cells: neural-cell adhesion-molecule (NCAM; CD56)-expressing cells appear to contain multipotential stem cells
    • Sinanan AC, Hunt NP, Lewis MP. Human adult craniofacial muscle-derived cells: neural-cell adhesion-molecule (NCAM; CD56)-expressing cells appear to contain multipotential stem cells. Biotechnol Appl Biochem 2004, 40:25-34.
    • (2004) Biotechnol Appl Biochem , vol.40 , pp. 25-34
    • Sinanan, A.C.1    Hunt, N.P.2    Lewis, M.P.3
  • 29
    • 37349061115 scopus 로고    scopus 로고
    • Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies
    • Morosetti R, Mirabella M, Gliubizzi C. Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies. Stem Cells 2007, 25:3173-82.
    • (2007) Stem Cells , vol.25 , pp. 3173-3182
    • Morosetti, R.1    Mirabella, M.2    Gliubizzi, C.3
  • 30
    • 0037468461 scopus 로고    scopus 로고
    • Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation
    • Yip DJ, Picketts DJ. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett 2003, 537:133-8.
    • (2003) FEBS Lett , vol.537 , pp. 133-138
    • Yip, D.J.1    Picketts, D.J.2
  • 31
    • 27744465686 scopus 로고    scopus 로고
    • Microtubule-dependent transport and organization of sarcomeric myosin during skeletal muscle differentiation
    • Pizon V, Gerbal F, Diaz CC. Microtubule-dependent transport and organization of sarcomeric myosin during skeletal muscle differentiation. Embo J 2005, 24:3781-92.
    • (2005) Embo J , vol.24 , pp. 3781-3792
    • Pizon, V.1    Gerbal, F.2    Diaz, C.C.3
  • 32
    • 0345257778 scopus 로고    scopus 로고
    • Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
    • van Overveld PG, Lemmers RJ, Sandkuijl LA. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003, 35:315-7.
    • (2003) Nat Genet , vol.35 , pp. 315-317
    • van Overveld, P.G.1    Lemmers, R.J.2    Sandkuijl, L.A.3
  • 33
    • 0034782974 scopus 로고    scopus 로고
    • Defective satellite cells in congenital myotonic dystrophy
    • Furling D, Coiffier L, Mouly V. Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 2001, 10:2079-87.
    • (2001) Hum Mol Genet , vol.10 , pp. 2079-2087
    • Furling, D.1    Coiffier, L.2    Mouly, V.3
  • 34
    • 0034815139 scopus 로고    scopus 로고
    • Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts
    • Furling D, Lemieux D, Taneja K. Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. Neuromuscul Disord 2001, 11:728-35.
    • (2001) Neuromuscul Disord , vol.11 , pp. 728-735
    • Furling, D.1    Lemieux, D.2    Taneja, K.3
  • 35
    • 0034806973 scopus 로고    scopus 로고
    • Molecular basis for impaired muscle differentiation in myotonic dystrophy
    • Timchenko NA, Iakova P, Cai ZJ. Molecular basis for impaired muscle differentiation in myotonic dystrophy. Mol Cell Biol 2001, 21:6927-38.
    • (2001) Mol Cell Biol , vol.21 , pp. 6927-6938
    • Timchenko, N.A.1    Iakova, P.2    Cai, Z.J.3
  • 36
    • 0020575157 scopus 로고
    • Differentiation properties of pure populations of human dystrophic muscle cells
    • Blau HM, Webster C, Chiu CP. Differentiation properties of pure populations of human dystrophic muscle cells. Exp Cell Res 1983, 144:495-503.
    • (1983) Exp Cell Res , vol.144 , pp. 495-503
    • Blau, H.M.1    Webster, C.2    Chiu, C.P.3
  • 37
    • 33845880871 scopus 로고    scopus 로고
    • RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy
    • Macaione V, Aguennouz M, Rodolico C. RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy. Acta Neurol Scand 2007, 115:115-21.
    • (2007) Acta Neurol Scand , vol.115 , pp. 115-121
    • Macaione, V.1    Aguennouz, M.2    Rodolico, C.3
  • 38
    • 16844364725 scopus 로고    scopus 로고
    • Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
    • Laoudj-Chenivesse D, Carnac G, Bisbal C. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med 2005, 83:216-24.
    • (2005) J Mol Med , vol.83 , pp. 216-224
    • Laoudj-Chenivesse, D.1    Carnac, G.2    Bisbal, C.3
  • 39
    • 33749605124 scopus 로고    scopus 로고
    • Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes
    • Celegato B, Capitanio D, Pescatori M. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics 2006, 6:5303-21.
    • (2006) Proteomics , vol.6 , pp. 5303-5321
    • Celegato, B.1    Capitanio, D.2    Pescatori, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.