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Volumn 10, Issue 2, 2010, Pages 83-91

Congenital muscular dystrophies: Toward molecular therapeutic interventions

Author keywords

Alpha dystroglycan; Collagen VI; Congenital muscular dystrophies; Integrin alpha7; Laminin alpha2; Merosin; Selenoprotein N

Indexed keywords

ALPHA DYSTROGLYCAN; ALPHA7 INTEGRIN; COLLAGEN TYPE 6; LAMININ ALPHA2; SELENOPROTEIN; SELENOPROTEIN N; UNCLASSIFIED DRUG;

EID: 77953546004     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-010-0092-8     Document Type: Review
Times cited : (43)

References (63)
  • 1
    • 77953541564 scopus 로고    scopus 로고
    • Congenital muscular dystrophy
    • Edited by Squire LR. London, Oxford, Boston, New York, and San Diego: Academic Press;
    • Bönnemann CG: Congenital muscular dystrophy. In Encyclopedia of Neuroscience. Edited by Squire LR. London, Oxford, Boston, New York, and San Diego: Academic Press; 2008:67-74.
    • (2008) Encyclopedia of Neuroscience , pp. 67-74
    • Bönnemann, C.G.1
  • 2
    • 42149181389 scopus 로고    scopus 로고
    • The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1- related myopathy
    • Schara U, Kress W, Bönnemann CG, et al.: The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1- related myopathy. Eur J Paediatr Neurol 2008, 12:224-230.
    • (2008) Eur J Paediatr Neurol , vol.12 , pp. 224-230
    • Schara, U.1    Kress, W.2    Bönnemann, C.G.3
  • 3
    • 68249154901 scopus 로고    scopus 로고
    • Natural history of Ullrich congenital muscular dystrophy
    • Nadeau A, Kinali M, Main M, et al.: Natural history of Ullrich congenital muscular dystrophy. Neurology 2009, 73:25-31.
    • (2009) Neurology , vol.73 , pp. 25-31
    • Nadeau, A.1    Kinali, M.2    Main, M.3
  • 4
    • 33845286555 scopus 로고    scopus 로고
    • Human laminopathies: Nuclei gone genetically awry
    • Capell BC, Collins FS: 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
  • 5
    • 32244440192 scopus 로고    scopus 로고
    • Dystroglycan: From biosynthesis to pathogenesis of human disease
    • Barresi R, Campbell KP: Dystroglycan: From biosynthesis to pathogenesis of human disease. J Cell Sci 2006, 119:199-207.
    • (2006) J Cell Sci , vol.119 , pp. 199-207
    • Barresi, R.1    Campbell, K.P.2
  • 6
    • 43449084043 scopus 로고    scopus 로고
    • Muscular dystrophies due to defective glycosylation of dystroglycan
    • Muntoni F, Brockington M, Godfrey C, et al.: Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol 2007, 26:129-135.
    • (2007) Acta Myol , vol.26 , pp. 129-135
    • Muntoni, F.1    Brockington, M.2    Godfrey, C.3
  • 7
    • 34848837334 scopus 로고    scopus 로고
    • Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
    • Godfrey C, Clement E, Mein R, et al.: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007, 130:2725-2735.
    • (2007) Brain , vol.130 , pp. 2725-2735
    • Godfrey, C.1    Clement, E.2    Mein, R.3
  • 8
    • 69149093522 scopus 로고    scopus 로고
    • Basal lamina strengthens cell membrane integrity via the laminin G domainbinding motif of alpha-dystroglycan
    • Han R, Kanagawa M, Yoshida-Moriguchi T, et al. Basal lamina strengthens cell membrane integrity via the laminin G domainbinding motif of alpha-dystroglycan. Proc Natl Acad Sci U S A 2009,106:12573-12579.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 12573-12579
    • Han, R.1    Kanagawa, M.2    Yoshida-Moriguchi, T.3
  • 9
    • 0037173629 scopus 로고    scopus 로고
    • Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy
    • Moore SA, Saito F, Chen J, et al.: Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002, 418:422-425.
    • (2002) Nature , vol.418 , pp. 422-425
    • Moore, S.A.1    Saito, F.2    Chen, J.3
  • 10
    • 69949154343 scopus 로고    scopus 로고
    • A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
    • Jimenez-Mallebrera C, Torelli S, Feng L, et al.: A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol 2009, 19:596-611.
    • (2009) Brain Pathol , vol.19 , pp. 596-611
    • Jimenez-Mallebrera, C.1    Torelli, S.2    Feng, L.3
  • 11
    • 3142731311 scopus 로고    scopus 로고
    • LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
    • Barresi R, Michele DE, KanagawaM, et al.: LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 2004, 10:696-703.
    • (2004) Nat Med , vol.10 , pp. 696-703
    • Barresi, R.1    Michele, D.E.2    Kanagawa, M.3
  • 12
    • 2942733346 scopus 로고    scopus 로고
    • Molecular recognition by LARGE is essential for expression of functional dystroglycan
    • Kanagawa M, Saito F, Kunz S, et al.: Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 2004, 117:953-964.
    • (2004) Cell , vol.117 , pp. 953-964
    • Kanagawa, M.1    Saito, F.2    Kunz, S.3
  • 13
    • 0028340350 scopus 로고
    • Molecular cloning of a murine Nacetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen
    • Smith PL, Lowe JB: Molecular cloning of a murine Nacetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen. J Biol Chem 1994, 269:15162-15171.
    • (1994) J Biol Chem , vol.269 , pp. 15162-15171
    • Smith, P.L.1    Lowe, J.B.2
  • 14
    • 0036252145 scopus 로고    scopus 로고
    • Modulation of agrin binding and activity by the CT and related carbohydrate antigens
    • Xia B, Martin PT: Modulation of agrin binding and activity by the CT and related carbohydrate antigens. Mol Cell Neurosci 2002, 19:539-551.
    • (2002) Mol Cell Neurosci , vol.19 , pp. 539-551
    • Xia, B.1    Martin, P.T.2
  • 15
    • 34247588271 scopus 로고    scopus 로고
    • PTC124 targets genetic disorders caused by nonsense mutations
    • Ataluren (PTC124) is now completing phase 2b clinical trials in Duchenne muscular dystrophy. As a drug designed to cause readthough through premature termination codons, ataluren is one of the first mutation-specific treatment approaches that also might be relevant to other neuromuscular disorders with premature termination codons
    • Welch EM, Barton ER, Zhuo J, et al.: PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007, 447:87-91. Ataluren (PTC124) is now completing phase 2b clinical trials in Duchenne muscular dystrophy. As a drug designed to cause readthough through premature termination codons, ataluren is one of the first mutation-specific treatment approaches that also might be relevant to other neuromuscular disorders with premature termination codons.
    • (2007) Nature , vol.447 , pp. 87-91
    • Welch, E.M.1    Barton, E.R.2    Zhuo, J.3
  • 16
    • 37349013379 scopus 로고    scopus 로고
    • A counterintuitive approach to treat enzyme deficiencies: Use of enzyme inhibitors for restoring mutant enzyme activity
    • Fan JQ: A counterintuitive approach to treat enzyme deficiencies: Use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 2008, 389:1-11.
    • (2008) Biol Chem , vol.389 , pp. 1-11
    • Fan, J.Q.1
  • 17
    • 30344435305 scopus 로고    scopus 로고
    • Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors
    • Blankinship MJ, Gregorevic P, Chamberlain JS: Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors. Mol Ther 2006, 13:241-249.
    • (2006) Mol Ther , vol.13 , pp. 241-249
    • Blankinship, M.J.1    Gregorevic, P.2    Chamberlain, J.S.3
  • 18
    • 24744467776 scopus 로고    scopus 로고
    • Amelioration of laminin-{alpha}2- deficient congenital muscular dystrophy by somatic gene transfer of miniagrin
    • Qiao C, Li J, Zhu T, et al.: Amelioration of laminin-{alpha}2- deficient congenital muscular dystrophy by somatic gene transfer of miniagrin. Proc Natl Acad Sci U S A 2005, 102:11999-12004.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 11999-12004
    • Qiao, C.1    Li, J.2    Zhu, T.3
  • 19
    • 17344372250 scopus 로고    scopus 로고
    • Mutations in the integrin a7 gene cause congenital myopathy
    • Hayashi YK, Chou F-L, Engvall E, et al.: Mutations in the integrin a7 gene cause congenital myopathy. Nature Genet 1998, 19:94-97.
    • (1998) Nature Genet , vol.19 , pp. 94-97
    • Hayashi, Y.K.1    Chou, F-L.2    Engvall, E.3
  • 20
    • 0032588041 scopus 로고    scopus 로고
    • The alpha7beta1 integrin in muscle development and disease
    • Burkin DJ, Kaufman SJ: The alpha7beta1 integrin in muscle development and disease. Cell Tissue Res 1999, 296:183-190.
    • (1999) Cell Tissue Res , vol.296 , pp. 183-190
    • Burkin, D.J.1    Kaufman, S.J.2
  • 21
    • 58249110400 scopus 로고    scopus 로고
    • Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy
    • Rooney JE, Gurpur PB, Yablonka-Reuveni Z, et al.: Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy. Am J Pathol 2009, 174:256-264.
    • (2009) Am J Pathol , vol.174 , pp. 256-264
    • Rooney, J.E.1    Gurpur, P.B.2    Yablonka-Reuveni, Z.3
  • 22
    • 0036080951 scopus 로고    scopus 로고
    • Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology
    • Pegoraro E, Cepollaro F, Prandini P, et al.: Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. Am J Pathol 2002, 160:2135-2143.
    • (2002) Am J Pathol , vol.160 , pp. 2135-2143
    • Pegoraro, E.1    Cepollaro, F.2    Prandini, P.3
  • 23
    • 33745493594 scopus 로고    scopus 로고
    • Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin
    • Rooney JE, Welser JV, Dechert MA, et al.: Severe muscular dystrophy in mice that lack dystrophin and alpha7 integrin. J Cell Sci 2006, 119:2185-2195.
    • (2006) J Cell Sci , vol.119 , pp. 2185-2195
    • Rooney, J.E.1    Welser, J.V.2    Dechert, M.A.3
  • 24
    • 39349089905 scopus 로고    scopus 로고
    • Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression
    • Liu J, Burkin DJ, Kaufman SJ: Increasing alpha 7 beta 1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression. Am J Physiol Cell Physiol 2008, 294:C627-C640.
    • (2008) Am J Physiol Cell Physiol , vol.294
    • Liu, J.1    Burkin, D.J.2    Kaufman, S.J.3
  • 25
    • 0030809116 scopus 로고    scopus 로고
    • Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies
    • Hodges BL, Hayashi YK, Nonaka I, et al.: Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci 1997, 110:2873-2881.
    • (1997) J Cell Sci , vol.110 , pp. 2873-2881
    • Hodges, B.L.1    Hayashi, Y.K.2    Nonaka, I.3
  • 26
    • 66049117408 scopus 로고    scopus 로고
    • Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy
    • This study suggests the possibility of protein therapy, that is, the concept that a systemically delivered protein may improve pathology
    • Rooney JE, Gurpur PB, Burkin DJ: Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. Proc Natl Acad Sci U S A 2009, 106:7991-7996. This study suggests the possibility of protein therapy, that is, the concept that a systemically delivered protein may improve pathology.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 7991-7996
    • Rooney, J.E.1    Gurpur, P.B.2    Burkin, D.J.3
  • 27
    • 33846265912 scopus 로고    scopus 로고
    • Congenital muscular dystrophies: New aspects of an expanding group of disorders
    • Lisi MT, Cohn RD: Congenital muscular dystrophies: New aspects of an expanding group of disorders. Biochim Biophys Acta 2007, 1772:159-172.
    • (2007) Biochim Biophys Acta , vol.1772 , pp. 159-172
    • Lisi, M.T.1    Cohn, R.D.2
  • 28
    • 0030783172 scopus 로고    scopus 로고
    • Animal models for muscular dystrophy show different patterns of sarcolemmal disruption
    • Straub V, Rafael JA, Chamberlain JS, et al.: Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J Cell Biol 1997, 139:375-385.
    • (1997) J Cell Biol , vol.139 , pp. 375-385
    • Straub, V.1    Rafael, J.A.2    Chamberlain, J.S.3
  • 29
    • 34249857394 scopus 로고    scopus 로고
    • The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alphα2-deficient congenital muscular dystrophy
    • Hall TE, Bryson-Richardson RJ, Berger S, et al.: The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alphα2-deficient congenital muscular dystrophy. Proc Natl Acad Sci U S A 2007, 104:7092-7097.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 7092-7097
    • Hall, T.E.1    Bryson-Richardson, R.J.2    Berger, S.3
  • 30
    • 0029794008 scopus 로고    scopus 로고
    • Merosin and laminin in myogenesis; Specific requirement for merosin in myotube stability and survival
    • Vachon PH, Loechel F, Xu H, et al.: 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
  • 31
    • 85047693919 scopus 로고    scopus 로고
    • Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy
    • Girgenrath M, Dominov JA, Kostek CA, et al.: 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
  • 32
    • 17744385764 scopus 로고    scopus 로고
    • Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2- deficient, but not in dystrophin-deficient, mice
    • Dominov JA, Kravetz AJ, Ardelt M, et al.: Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2- deficient, but not in dystrophin-deficient, mice. Hum Mol Genet 2005, 14:1029-1040.
    • (2005) Hum Mol Genet , vol.14 , pp. 1029-1040
    • Dominov, J.A.1    Kravetz, A.J.2    Ardelt, M.3
  • 33
    • 0035030357 scopus 로고    scopus 로고
    • Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy
    • Hayashi YK, Tezak Z, Momoi T, et al.: Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 2001, 11:350-359.
    • (2001) Neuromuscul Disord , vol.11 , pp. 350-359
    • Hayashi, Y.K.1    Tezak, Z.2    Momoi, T.3
  • 34
    • 73349085584 scopus 로고    scopus 로고
    • Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-{alpha}2 deficiency
    • This study provides evidence that a small molecule pharmaceutic with antiapoptotic properties may ameliorate CMDs in which apoptosis appears to play a significant component in the pathogenesis (including MDC1A and collagen VI-deficient CMD) and therefore is a candidate for further clinical studies in these conditions. Omigapil already has been in clinical trials in patients with amyotrophic lateral sclerosis
    • Erb M, Meinen S, Barzaghi P, et al.: Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-{alpha}2 deficiency. J Pharmacol Exp Ther 2009, 331:787-795. This study provides evidence that a small molecule pharmaceutic with antiapoptotic properties may ameliorate CMDs in which apoptosis appears to play a significant component in the pathogenesis (including MDC1A and collagen VI-deficient CMD) and therefore is a candidate for further clinical studies in these conditions. Omigapil already has been in clinical trials in patients with amyotrophic lateral sclerosis.
    • (2009) J Pharmacol Exp Ther , vol.331 , pp. 787-795
    • Erb, M.1    Meinen, S.2    Barzaghi, P.3
  • 35
    • 34548119851 scopus 로고    scopus 로고
    • Phase II/III randomized trial of TCH346 in patients with ALS
    • Miller R, Bradley W, Cudkowicz M, et al.: Phase II/III randomized trial of TCH346 in patients with ALS. Neurology 2007, 69:776-784.
    • (2007) Neurology , vol.69 , pp. 776-784
    • Miller, R.1    Bradley, W.2    Cudkowicz, M.3
  • 36
    • 60849118087 scopus 로고    scopus 로고
    • Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy
    • This study used already-approved drugs (minocycline and doxycycline) to target a recognized pathophysiologic pathway (apoptosis and inflammation) in a mouse model of merosin-deficient MDC1A. Using approved drugs for novel indications in neuromuscular disorders may accelerate the translational process significantly (but obviously also must take into account each drug's toxic profile)
    • Girgenrath M, Beermann ML, Vishnudas VK, et al.: Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. Ann Neurol 2009, 65:47-56. This study used already-approved drugs (minocycline and doxycycline) to target a recognized pathophysiologic pathway (apoptosis and inflammation) in a mouse model of merosin-deficient MDC1A. Using approved drugs for novel indications in neuromuscular disorders may accelerate the translational process significantly (but obviously also must take into account each drug's toxic profile).
    • (2009) Ann Neurol , vol.65 , pp. 47-56
    • Girgenrath, M.1    Beermann, M.L.2    Vishnudas, V.K.3
  • 37
    • 0032991133 scopus 로고    scopus 로고
    • Transforming growth factor-beta1 and fibrosis in congenital muscular dystrophies
    • Bernasconi P, Di Blasi C, Mora M, et al.: Transforming growth factor-beta1 and fibrosis in congenital muscular dystrophies. Neuromuscul Disord 1999, 9:28-33.
    • (1999) Neuromuscul Disord , vol.9 , pp. 28-33
    • Bernasconi, P.1    Di Blasi, C.2    Mora, M.3
  • 38
    • 33846946114 scopus 로고    scopus 로고
    • Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
    • Cohn RD, Van Erp C, Habashi JP, et al.: Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007, 13:204-210.
    • (2007) Nat Med , vol.13 , pp. 204-210
    • Cohn, R.D.1    Van Erp, C.2    Habashi, J.P.3
  • 39
    • 77953540216 scopus 로고    scopus 로고
    • Treatment approaches in laminin- α2-deficient congenital muscular dystrophy (MDC1A)
    • EM.P.541.504
    • Meinen S, Lin S, Ruegg MA: Treatment approaches in laminin- α2-deficient congenital muscular dystrophy (MDC1A). Neuromuscul Disord 2009, 19:543 EM.P.541.504.
    • (2009) Neuromuscul Disord , vol.19 , pp. 543
    • Meinen, S.1    Lin, S.2    Ruegg, M.A.3
  • 40
    • 0035921981 scopus 로고    scopus 로고
    • An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
    • Moll J, Barzaghi P, Lin S, et al.: An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001, 413:302-307.
    • (2001) Nature , vol.413 , pp. 302-307
    • Moll, J.1    Barzaghi, P.2    Lin, S.3
  • 41
    • 4444354572 scopus 로고    scopus 로고
    • Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice
    • Gawlik K, Miyagoe-Suzuki Y, Ekblom P, et al.: Laminin alpha1 chain reduces muscular dystrophy in laminin alpha2 chain deficient mice. Hum Mol Genet 2004, 13:1775-1784.
    • (2004) Hum Mol Genet , vol.13 , pp. 1775-1784
    • Gawlik, K.1    Miyagoe-Suzuki, Y.2    Ekblom, P.3
  • 42
    • 33746696646 scopus 로고    scopus 로고
    • Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy
    • Hagiwara H, Ohsawa Y, Asakura S, et al.: Bone marrow transplantation improves outcome in a mouse model of congenital muscular dystrophy. FEBS Lett 2006, 580:4463-4468.
    • (2006) FEBS Lett , vol.580 , pp. 4463-4468
    • Hagiwara, H.1    Ohsawa, Y.2    Asakura, S.3
  • 43
    • 36549013715 scopus 로고    scopus 로고
    • CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)/dy(3k) mice
    • Fukada S, Yamamoto Y, Segawa M, et al.: CD90-positive cells, an additional cell population, produce laminin alpha2 upon transplantation to dy(3k)/dy(3k) mice. Exper Cell Res 2008, 314:193-203.
    • (2008) Exper Cell Res , vol.314 , pp. 193-203
    • Fukada, S.1    Yamamoto, Y.2    Segawa, M.3
  • 44
    • 24944559356 scopus 로고    scopus 로고
    • Collagen VI related muscle disorders
    • Lampe AK, Bushby KM: Collagen VI related muscle disorders. J Med Genet 2005, 42:673-685.
    • (2005) J Med Genet , vol.42 , pp. 673-685
    • Lampe, A.K.1    Bushby, K.M.2
  • 45
    • 34447291815 scopus 로고    scopus 로고
    • Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
    • Petrini S, D'Amico A, Sale P, et al.: Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. Neuromuscul Disord 2007, 17:587-596.
    • (2007) Neuromuscul Disord , vol.17 , pp. 587-596
    • Petrini, S.1    D'Amico, A.2    Sale, P.3
  • 46
    • 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, 283:10658-10670.
    • (2008) J Biol Chem , vol.283 , pp. 10658-10670
    • Gara, S.K.1    Grumati, P.2    Urciuolo, A.3
  • 47
    • 50649101286 scopus 로고    scopus 로고
    • Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)
    • Fitzgerald J, Rich C, Zhou FH, Hansen U: Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI). J Biol Chem 2008, 283:20170-20180.
    • (2008) J Biol Chem , vol.283 , pp. 20170-20180
    • Fitzgerald, J.1    Rich, C.2    Zhou, F.H.3    Hansen, U.4
  • 48
    • 34548436040 scopus 로고    scopus 로고
    • Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease
    • Kawahara G, Okada M, Morone N, et al.: Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease. Neurology 2007, 69:1043-1049.
    • (2007) Neurology , vol.69 , pp. 1043-1049
    • Kawahara, G.1    Okada, M.2    Morone, N.3
  • 49
    • 51349109654 scopus 로고    scopus 로고
    • Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
    • Kawahara G, Ogawa M, Okada M, et al.: Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve 2008, 38:1192-1195.
    • (2008) Muscle Nerve , vol.38 , pp. 1192-1195
    • Kawahara, G.1    Ogawa, M.2    Okada, M.3
  • 50
    • 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. Nat Genet 2003, 35:367-371.
    • (2003) Nat Genet , vol.35 , pp. 367-371
    • Irwin, W.A.1    Bergamin, N.2    Sabatelli, P.3
  • 51
    • 33846477445 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
    • This study demonstrated that mitochondrial PTP dysfunction also occurs in human cells derived from patients with collagen VI-deficient CMD and that this dysfunction can be blocked successfully pharmaceutically
    • 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, 104:991-996. This study demonstrated that mitochondrial PTP dysfunction also occurs in human cells derived from patients with collagen VI-deficient CMD and that this dysfunction can be blocked successfully pharmaceutically.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , pp. 991-996
    • Angelin, A.1    Tiepolo, T.2    Sabatelli, P.3
  • 52
    • 58849108906 scopus 로고    scopus 로고
    • Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue
    • Hicks D, Lampe AK, Laval SH, et al.: Cyclosporine A treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue. Brain 2009, 132:147-155.
    • (2009) Brain , vol.132 , pp. 147-155
    • Hicks, D.1    Lampe, A.K.2    Laval, S.H.3
  • 53
    • 42449109035 scopus 로고    scopus 로고
    • Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
    • Merlini L, Angelin A, Tiepolo T, et al.: Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A 2008, 105:5225-5229.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 5225-5229
    • Merlini, L.1    Angelin, A.2    Tiepolo, T.3
  • 54
    • 10244236553 scopus 로고    scopus 로고
    • The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria
    • Hansson MJ, Mattiasson G, Mansson R, et al.: The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria. J Bioenerg Biomembr 2004, 36:407-413.
    • (2004) J Bioenerg Biomembr , vol.36 , pp. 407-413
    • Hansson, M.J.1    Mattiasson, G.2    Mansson, R.3
  • 55
    • 65549104874 scopus 로고    scopus 로고
    • The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice
    • This study in collagen VI- deficient mice provided evidence that the cyclophilin D inhibitor Debio 025 counteracts the mitochondrially mediated apoptosis seen in these animals and therefore is a candidate for clinical studies in collagen VI-deficient CMDs. Debio 025 already is in clinical trials in patients with hepatitis C
    • 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, 157:1045-1052. This study in collagen VI- deficient mice provided evidence that the cyclophilin D inhibitor Debio 025 counteracts the mitochondrially mediated apoptosis seen in these animals and therefore is a candidate for clinical studies in collagen VI-deficient CMDs. Debio 025 already is in clinical trials in patients with hepatitis C.
    • (2009) Br J Pharmacol , vol.157 , pp. 1045-1052
    • Tiepolo, T.1    Angelin, A.2    Palma, E.3
  • 56
    • 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. Hum Mol Genet 2009, 18:2024-2031.
    • (2009) Hum Mol Genet , vol.18 , pp. 2024-2031
    • Palma, E.1    Tiepolo, T.2    Angelin, A.3
  • 57
    • 40949117600 scopus 로고    scopus 로고
    • The cyclophilin inhibitor Debio-025 shows potent anti-hepatitis C effect in patients coinfected with hepatitis C and human immunodeficiency virus
    • Flisiak R, Horban A, Gallay P, et al.: The cyclophilin inhibitor Debio-025 shows potent anti-hepatitis C effect in patients coinfected with hepatitis C and human immunodeficiency virus. Hepatology 2008, 47:817-826.
    • (2008) Hepatology , vol.47 , pp. 817-826
    • Flisiak, R.1    Horban, A.2    Gallay, P.3
  • 58
    • 42949160078 scopus 로고    scopus 로고
    • Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: Implications for congenital muscular dystrophy types Ullrich and Bethlem
    • Zou Y, Zhang RZ, Sabatelli P, et al.: Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: Implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol 2008, 67:144-154.
    • (2008) J Neuropathol Exp Neurol , vol.67 , pp. 144-154
    • Zou, Y.1    Zhang, R.Z.2    Sabatelli, P.3
  • 59
  • 60
    • 33845784175 scopus 로고    scopus 로고
    • Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo
    • Deniziak M, Thisse C, Rederstorff M, et al.: Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo. Exper Cell Res 2007, 313:156-167.
    • (2007) Exper Cell Res , vol.313 , pp. 156-167
    • Deniziak, M.1    Thisse, C.2    Rederstorff, M.3
  • 61
    • 67650066807 scopus 로고    scopus 로고
    • Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment
    • This study demonstrated that the SEPN1 mutations lead to abnormal redox pathways as well as to abnormal RYR1-mediated calcium modulation in patient-derived cultures and that these abnormalities improve with application of the approved drug NAC, thus opening the perspective of a clinical trial of NAC in this myopathy, as the toxic profile of this drug is favorable
    • Arbogast S, Beuvin M, Fraysse B, et al.: Oxidative stress in SEPN1-related myopathy: From pathophysiology to treatment. Ann Neurol 2009, 65:677-686. This study demonstrated that the SEPN1 mutations lead to abnormal redox pathways as well as to abnormal RYR1-mediated calcium modulation in patient-derived cultures and that these abnormalities improve with application of the approved drug NAC, thus opening the perspective of a clinical trial of NAC in this myopathy, as the toxic profile of this drug is favorable.
    • (2009) Ann Neurol , vol.65 , pp. 677-686
    • Arbogast, S.1    Beuvin, M.2    Fraysse, B.3
  • 62
    • 33751275013 scopus 로고    scopus 로고
    • Redox regulation of the ryanodine receptor/calcium release channel
    • Zissimopoulos S, Lai FA: Redox regulation of the ryanodine receptor/calcium release channel. Biochem Soc Trans 2006, 34:919-921.
    • (2006) Biochem Soc Trans , vol.34 , pp. 919-921
    • Zissimopoulos, S.1    Lai, F.A.2
  • 63
    • 0036260805 scopus 로고    scopus 로고
    • A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
    • Ferreiro A, Monnier N, Romero NB, et al.: A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002, 51:750-759.
    • (2002) Ann Neurol , vol.51 , pp. 750-759
    • Ferreiro, A.1    Monnier, N.2    Romero, N.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.