메뉴 건너뛰기




Volumn 3, Issue 4, 2013, Pages 281-286

Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies

Author keywords

Collagen VI; Mitochondria; mPTP; Scanning electron microscopy back scattered imaging; Transmission electron microscopy

Indexed keywords


EID: 84894458465     PISSN: None     EISSN: 22404554     Source Type: Journal    
DOI: 10.11138/mltj/2013.3.4.281     Document Type: Article
Times cited : (22)

References (25)
  • 1
    • 0023821420 scopus 로고
    • Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network
    • Keene DR, Engvall E, Glanville RW. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network. The Journal of cell biology 1988; 107(5): 1995-2006.
    • (1988) The Journal of cell biology , vol.107 , Issue.5 , pp. 1995-2006
    • Keene, D.R.1    Engvall, E.2    Glanville, R.W.3
  • 2
    • 0030693370 scopus 로고    scopus 로고
    • Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen
    • Kuo HJ, Maslen CL, Keene DR, Glanville RW. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. J Biol Chem 1997; 272(42): 26522-26529.
    • (1997) J Biol Chem , vol.272 , Issue.42 , pp. 26522-26529
    • Kuo, H.J.1    Maslen, C.L.2    Keene, D.R.3    Glanville, R.W.4
  • 3
    • 0022539753 scopus 로고
    • Molecular assembly, secretion, and matrix deposition of type VI collagen
    • Engvall E, Hessle H, Klier G. Molecular assembly, secretion, and matrix deposition of type VI collagen. The Journal of cell biology 1986; 102(3): 703-10.
    • (1986) The Journal of cell biology , vol.102 , Issue.3 , pp. 703-710
    • Engvall, E.1    Hessle, H.2    Klier, G.3
  • 4
    • 44849095580 scopus 로고    scopus 로고
    • Three novel collagen VI chains with high homology to the alpha3 chain
    • Gara SK, Grumati P, Urciuolo A, et al. Three novel collagen VI chains with high homology to the alpha3 chain. J Biol Chem 2008; 283(16): 10658-10670.
    • (2008) J Biol Chem , vol.283 , Issue.16 , pp. 10658-10670
    • Gara, S.K.1    Grumati, P.2    Urciuolo, A.3
  • 5
    • 0036378561 scopus 로고    scopus 로고
    • Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
    • Bertini E, Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol 2002; 6(4): 193-198.
    • (2002) Eur J Paediatr Neurol , vol.6 , Issue.4 , pp. 193-198
    • Bertini, E.1    Pepe, G.2
  • 6
    • 0028018998 scopus 로고
    • Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
    • Merlini L, Morandi L, Granata C, Ballestrazzi A. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. Neuromuscul Disord 1994; 4(5-6): 503-511.
    • (1994) Neuromuscul Disord , vol.4 , Issue.5-6 , pp. 503-511
    • Merlini, L.1    Morandi, L.2    Granata, C.3    Ballestrazzi, A.4
  • 7
    • 53049102499 scopus 로고    scopus 로고
    • Autosomal recessive myosclerosis myopathy is a collagen VI disorder
    • Merlini L, Martoni E, Grumati P, et al. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008; 71(16): 1245-1253.
    • (2008) Neurology , vol.71 , Issue.16 , pp. 1245-1253
    • Merlini, L.1    Martoni, E.2    Grumati, P.3
  • 8
    • 33646255246 scopus 로고    scopus 로고
    • The mitochondrial permeability transition from in vitro artifact to disease target
    • Bernardi P, Krauskopf A, Basso E, et al. The mitochondrial permeability transition from in vitro artifact to disease target. FEBS J 2006; 273(10): 2077-2099.
    • (2006) FEBS J , vol.273 , Issue.10 , pp. 2077-2099
    • Bernardi, P.1    Krauskopf, A.2    Basso, E.3
  • 9
    • 33846477445 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
    • Angelin A, Tiepolo T, Sabatelli P, et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A 2007; 104(3): 991-996.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.3 , pp. 991-996
    • Angelin, A.1    Tiepolo, T.2    Sabatelli, P.3
  • 10
    • 53049098469 scopus 로고    scopus 로고
    • Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
    • Merlini L, Bernardi P. Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics 2008; (4): 613-618.
    • (2008) Neurotherapeutics , Issue.4 , pp. 613-618
    • Merlini, L.1    Bernardi, P.2
  • 11
    • 0024959449 scopus 로고
    • Cyclophilin and peptidyl-prolyl cis-trans isomerase are probably identical proteins
    • Fischer G, Wittmann-Liebold B, Lang K, Kiefhaber T, Schmid FX. Cyclophilin and peptidyl-prolyl cis-trans isomerase are probably identical proteins. Nature 1989; 337(6206): 476-478.
    • (1989) Nature , vol.337 , Issue.6206 , pp. 476-478
    • Fischer, G.1    Wittmann-Liebold, B.2    Lang, K.3    Kiefhaber, T.4    Schmid, F.X.5
  • 12
    • 65549104874 scopus 로고    scopus 로고
    • The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/-myopathic mice
    • Tiepolo T, Angelin A, Palma E, et al. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/-myopathic mice. Br J Pharmacol 2009; 157(6): 1045-1052.
    • (2009) Br J Pharmacol , vol.157 , Issue.6 , pp. 1045-1052
    • Tiepolo, T.1    Angelin, A.2    Palma, E.3
  • 13
    • 65549087972 scopus 로고    scopus 로고
    • Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
    • Palma E, Tiepolo T, Angelin A, et al. Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Human molecular genetics 2009; 18(11): 2024-2031.
    • (2009) Human molecular genetics , vol.18 , Issue.11 , pp. 2024-2031
    • Palma, E.1    Tiepolo, T.2    Angelin, A.3
  • 14
    • 78149319082 scopus 로고    scopus 로고
    • Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
    • Grumati P, Coletto L, Sabatelli P, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010; 16(11): 1313-20.
    • (2010) Nat Med , vol.16 , Issue.11 , pp. 1313-1320
    • Grumati, P.1    Coletto, L.2    Sabatelli, P.3
  • 16
    • 77956267631 scopus 로고    scopus 로고
    • Mitochondrial Ca2+ transport and permeability transition in zebrafish (Danio rerio)
    • Azzolin L, Basso E, Argenton F, Bernardi P. Mitochondrial Ca2+ transport and permeability transition in zebrafish (Danio rerio). Biochim Biophys Acta 2010; 1797(11): 1775-1779.
    • (2010) Biochim Biophys Acta , vol.1797 , Issue.11 , pp. 1775-1779
    • Azzolin, L.1    Basso, E.2    Argenton, F.3    Bernardi, P.4
  • 17
    • 84855323182 scopus 로고    scopus 로고
    • Cyclosporine A in Ullrich congenital muscular dystrophy: Long-term results
    • ID139194
    • Merlini L, Sabatelli P, Armaroli A, et al. Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev (2011); ID139194.
    • (2011) Oxid Med Cell Longev
    • Merlini, L.1    Sabatelli, P.2    Armaroli, A.3
  • 18
    • 79961218751 scopus 로고    scopus 로고
    • Labeling mitochondria with MitoTracker dyes
    • Chazotte B. Labeling mitochondria with MitoTracker dyes. Cold Spring Harb Protoc 2011; 2011(8): 990-992.
    • (2011) Cold Spring Harb Protoc , vol.2011 , Issue.8 , pp. 990-992
    • Chazotte, B.1
  • 19
    • 84858651123 scopus 로고
    • Colorations permettant l'étude des coupes épaisses, leur intéret en miscoscopie électronique
    • Thiery G. Colorations permettant l'étude des coupes épaisses, leur intéret en miscoscopie électronique. J Miscosc 1973; 17: 101A.
    • (1973) J Miscosc , vol.17
    • Thiery, G.1
  • 20
    • 10744233522 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
    • Irwin WA, Bergamin N, Sabatelli P, et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nature genetics 2003; 35(4): 367-371.
    • (2003) Nature genetics , vol.35 , Issue.4 , pp. 367-371
    • Irwin, W.A.1    Bergamin, N.2    Sabatelli, P.3
  • 21
    • 84858625921 scopus 로고    scopus 로고
    • Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies
    • Sabatelli P, Palma E, Angelin A, et al. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. Journal of cellular physiology 2012; 227(7): 2927-2935.
    • (2012) Journal of cellular physiology , vol.227 , Issue.7 , pp. 2927-2935
    • Sabatelli, P.1    Palma, E.2    Angelin, A.3
  • 22
    • 84877149646 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies
    • Bernardi P, Bonaldo P. Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harbor perspectives in biology 2013; 5(5): a011387.
    • (2013) Cold Spring Harbor perspectives in biology , vol.5 , Issue.5
    • Bernardi, P.1    Bonaldo, P.2
  • 23
    • 84874199731 scopus 로고    scopus 로고
    • Melanocytes-a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy
    • Pellegrini C, Zulian A, Gualandi F, et al. Melanocytes-a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. Journal of cellular physiology 2013; 228(6): 1323-1331.
    • (2013) Journal of cellular physiology , vol.228 , Issue.6 , pp. 1323-1331
    • Pellegrini, C.1    Zulian, A.2    Gualandi, F.3
  • 24
    • 0035487808 scopus 로고    scopus 로고
    • The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis
    • Frank S, Gaume B, Bergmann-Leitner ES, et al. The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis. Developmental cell 2001; 1(4): 515-525.
    • (2001) Developmental cell , vol.1 , Issue.4 , pp. 515-525
    • Frank, S.1    Gaume, B.2    Bergmann-Leitner, E.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.