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Volumn 3, Issue , 2014, Pages

SiRNA-mediated allele-specific silencing of a COL6A3 mutation in a cellular model of dominant ullrich muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; COLLAGEN TYPE 6; RNA INDUCED SILENCING COMPLEX; SMALL INTERFERING RNA; COLLAGEN 6 A3; MESSENGER RNA; UNCLASSIFIED DRUG;

EID: 84894128585     PISSN: None     EISSN: 21622531     Source Type: Journal    
DOI: 10.1038/mtna.2013.74     Document Type: Article
Times cited : (30)

References (42)
  • 3
    • 0041664084 scopus 로고    scopus 로고
    • New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
    • DOI 10.1086/377107
    • Pan, TC, Zhang, RZ, Sudano, DG, Marie, SK, Bönnemann, CG and Chu, ML (2003). New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 73:355-369. (Pubitemid 36920997)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.2 , pp. 355-369
    • Pan, T.-C.1    Zhang, R.-Z.2    Sudano, D.G.3    Marie, S.K.4    Bonnemann, C.G.5    Chu, M.-L.6
  • 4
    • 79960101359 scopus 로고    scopus 로고
    • The collagen VI-related myopathies: Muscle meets its matrix
    • Bönnemann, CG (2011). The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 7:379-390.
    • (2011) Nat Rev Neurol , vol.7 , pp. 379-390
    • Bönnemann, C.G.1
  • 6
    • 0022271408 scopus 로고
    • Structure and macromolecular organization of type VI collagen
    • Engel, J, Furthmayr, H, Odermatt, E, Von Der Mark, H, Aumailley, M, Fleischmajer, R et al. (1985). Structure and macromolecular organization of type VI collagen. Ann N Y Acad Sci 460:25-37. (Pubitemid 16074807)
    • (1985) Annals of the New York Academy of Sciences , vol.VOL. 460 , pp. 25-37
    • Engel, J.1    Furthmayr, H.2    Odermatt, E.3
  • 8
    • 0023913292 scopus 로고
    • Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen
    • Weil, D, Mattei, MG, Passage, E, N'Guyen, VC, Pribula-Conway, D, Mann, K et al. (1988). Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 42:435-445.
    • (1988) Am J Hum Genet , vol.42 , pp. 435-445
    • Weil, D.1    Mattei, M.G.2    Passage, E.3    N'Guyen, V.C.4    Pribula-Conway, D.5    Mann, K.6
  • 10
    • 0022539753 scopus 로고
    • Molecular assembly, secretion, and matrix deposition of type VI collagen
    • Engvall, E, Hessle, H and Klier, G (1986). Molecular assembly, secretion, and matrix deposition of type VI collagen. J Cell Biol 102:703-710. (Pubitemid 16013128)
    • (1986) Journal of Cell Biology , vol.102 , Issue.3 , pp. 703-710
    • Engvall, E.1    Hessle, H.2    Klier, G.3
  • 11
    • 0020632037 scopus 로고
    • Electron-microscopical approach to a structural model of intima collagen
    • Furthmayr, H, Wiedemann, H, Timpl, R, Odermatt, E and Engel, J (1983). Electronmicroscopical approach to a structural model of intima collagen. Biochem J 211:303-311. (Pubitemid 13092520)
    • (1983) Biochemical Journal , vol.211 , Issue.2 , pp. 303-311
    • Furthmayr, H.1    Wiedemann, H.2    Timpl, R.3
  • 12
    • 0029032206 scopus 로고
    • Secretion and matrix assembly of recombinant type VI collagen
    • Colombatti, A, Mucignat, MT and Bonaldo, P (1995). Secretion and matrix assembly of recombinant type VI collagen. J Biol Chem 270:13105-13111.
    • (1995) J Biol Chem , vol.270 , pp. 13105-13111
    • Colombatti, A.1    Mucignat, M.T.2    Bonaldo, P.3
  • 13
    • 0032571001 scopus 로고    scopus 로고
    • The role of the α3(VI) chain in collagen VI assembly. Expression of an ∅3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an α3(VI)-deficient cell line
    • DOI 10.1074/jbc.273.13.7423
    • Lamandé, SR, Sigalas, E, Pan, TC, Chu, ML, Dziadek, M, Timpl, R et al. (1998). The role of the alpha3 (VI) chain in collagen VI assembly. Expression of an alpha3 (VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3 (VI)-defcient cell line. J Biol Chem 273:7423-7430. (Pubitemid 28152764)
    • (1998) Journal of Biological Chemistry , vol.273 , Issue.13 , pp. 7423-7430
    • Lamande, S.R.1    Sigalas, E.2    Pan, T.-C.3    Chu, M.-L.4    Dziadek, M.5    Timpl, R.6    Bateman, J.F.7
  • 14
    • 12744253752 scopus 로고    scopus 로고
    • Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
    • Baker, NL, Mörgelin, M, Peat, R, Goemans, N, North, KN, Bateman, JF et al. (2005). Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 14:279-293.
    • (2005) Hum Mol Genet , vol.14 , pp. 279-293
    • Baker, N.L.1    Mörgelin, M.2    Peat, R.3    Goemans, N.4    North, K.N.5    Bateman, J.F.6
  • 24
    • 79551493692 scopus 로고    scopus 로고
    • Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy
    • Foley, AR, Hu, Y, Zou, Y, Yang, M, Medne, L, Leach, M et al. (2011). Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol 69:206-211.
    • (2011) Ann Neurol , vol.69 , pp. 206-211
    • Foley, A.R.1    Hu, Y.2    Zou, Y.3    Yang, M.4    Medne, L.5    Leach, M.6
  • 25
    • 0035942736 scopus 로고    scopus 로고
    • Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells
    • DOI 10.1038/35078107
    • Elbashir, SM, Harborth, J, Lendeckel, W, Yalcin, A, Weber, K and Tuschl, T (2001). Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 411:494-498. (Pubitemid 32494397)
    • (2001) Nature , vol.411 , Issue.6836 , pp. 494-498
    • Elbashir, S.M.1    Harborth, J.2    Lendeckel, W.3    Yalcin, A.4    Weber, K.5    Tuschl, T.6
  • 26
    • 84856389509 scopus 로고    scopus 로고
    • RNA-based therapeutics: Current progress and future prospects
    • Burnett, JC and Rossi, JJ (2012). RNA-based therapeutics: current progress and future prospects. Chem Biol 19:60-71.
    • (2012) Chem Biol , vol.19 , pp. 60-71
    • Burnett, J.C.1    Rossi, J.J.2
  • 27
    • 10744225153 scopus 로고    scopus 로고
    • Asymmetry in the assembly of the RNAi enzyme complex
    • DOI 10.1016/S0092-8674(03)00759-1
    • Schwarz, DS, Hutvágner, G, Du, T, Xu, Z, Aronin, N and Zamore, PD (2003). Asymmetry in the assembly of the RNAi enzyme complex. Cell 115:199-208. (Pubitemid 37329583)
    • (2003) Cell , vol.115 , Issue.2 , pp. 199-208
    • Schwarz, D.S.1    Hutvagner, G.2    Du, T.3    Xu, Z.4    Aronin, N.5    Zamore, P.D.6
  • 28
    • 42949160078 scopus 로고    scopus 로고
    • Muscle interstitial fbroblasts 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, Chu, ML and Bönnemann, CG (2008). Muscle interstitial fbroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol 67:144-154.
    • (2008) J Neuropathol Exp Neurol , vol.67 , pp. 144-154
    • Zou, Y.1    Zhang, R.Z.2    Sabatelli, P.3    Chu, M.L.4    Bönnemann, C.G.5
  • 29
    • 60149088848 scopus 로고    scopus 로고
    • Origins and Mechanisms of miRNAs and siRNAs
    • Carthew, RW and Sontheimer, EJ (2009). Origins and Mechanisms of miRNAs and siRNAs. Cell 136:642-655.
    • (2009) Cell , vol.136 , pp. 642-655
    • Carthew, R.W.1    Sontheimer, E.J.2
  • 31
    • 0026021323 scopus 로고
    • Relative rates of biosynthesis of collagen type I, type V and type VI in calf cornea
    • Kern, P, Menasche, M and Robert, L (1991). Relative rates of biosynthesis of collagen type I, type V and type VI in calf cornea. Biochem J 274(Pt 2):615-617.
    • (1991) Biochem J , vol.274 , Issue.PART 2 , pp. 615-617
    • Kern, P.1    Menasche, M.2    Robert, L.3
  • 33
    • 84885393806 scopus 로고    scopus 로고
    • Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies
    • Butterfeld, RJ, Foley, AR, Dastgir, J, Asman, S, Dunn, DM, Zou, Y et al. (2013). Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 34:1558-1567.
    • (2013) Hum Mutat , vol.34 , pp. 1558-1567
    • Butterfeld, R.J.1    Foley, A.R.2    Dastgir, J.3    Asman, S.4    Dunn, D.M.5    Zou, Y.6
  • 34
    • 70350690312 scopus 로고    scopus 로고
    • Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population
    • Norwood, FL, Harling, C, Chinnery, P F, Eagle, M, Bushby, K and Straub, V (2009). Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 132(Pt 11):3175-3186.
    • (2009) Brain , vol.132 , Issue.PART 11 , pp. 3175-3186
    • Norwood, F.L.1    Harling, C.2    Chinnery, P.F.3    Eagle, M.4    Bushby, K.5    Straub, V.6
  • 35
    • 84860596035 scopus 로고    scopus 로고
    • Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
    • Clement, EM, Feng, L, Mein, R, Sewry, CA, Robb, SA, Manzur, AY et al. (2012). Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord 22:522-527.
    • (2012) Neuromuscul Disord , vol.22 , pp. 522-527
    • Clement, E.M.1    Feng, L.2    Mein, R.3    Sewry, C.A.4    Robb, S.A.5    Manzur, A.Y.6
  • 36
    • 51349109654 scopus 로고    scopus 로고
    • Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
    • Kawahara, G, Ogawa, M, Okada, M, Malicdan, MC, Goto, Y, Hayashi, YK et al. (2008). Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve 38:1192-1195.
    • (2008) Muscle Nerve , vol.38 , pp. 1192-1195
    • Kawahara, G.1    Ogawa, M.2    Okada, M.3    Malicdan, M.C.4    Goto, Y.5    Hayashi, Y.K.6
  • 37
    • 84871191947 scopus 로고    scopus 로고
    • Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
    • Gualandi, F, Manzati, E, Sabatelli, P, Passarelli, C, Bovolenta, M, Pellegrini, C et al. (2012). Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy. Hum Gene Ther 23:1313-1318.
    • (2012) Hum Gene Ther , vol.23 , pp. 1313-1318
    • Gualandi, F.1    Manzati, E.2    Sabatelli, P.3    Passarelli, C.4    Bovolenta, M.5    Pellegrini, C.6
  • 38
    • 84861201945 scopus 로고    scopus 로고
    • SiRNA-mediated allele-specifc inhibition of mutant type VII collagen in dominant dystrophic epidermolysis bullosa
    • Pendaries, V, Gasc, G, Titeux, M, Tonasso, L, Mejía, JE and Hovnanian, A (2012). siRNA-mediated allele-specifc inhibition of mutant type VII collagen in dominant dystrophic epidermolysis bullosa. J Invest Dermatol 132:1741-1743.
    • (2012) J Invest Dermatol , vol.132 , pp. 1741-1743
    • Pendaries, V.1    Gasc, G.2    Titeux, M.3    Tonasso, L.4    Mejía, J.E.5    Hovnanian, A.6
  • 39
    • 56449115357 scopus 로고    scopus 로고
    • Allele dependent silencing of COL1A2 using small interfering RNAs
    • Lindahl, K, Rubin, CJ, Kindmark, A and Ljunggren, O (2008). Allele dependent silencing of COL1A2 using small interfering RNAs. Int J Med Sci 5:361-365.
    • (2008) Int J Med Sci , vol.5 , pp. 361-365
    • Lindahl, K.1    Rubin, C.J.2    Kindmark, A.3    Ljunggren, O.4
  • 40
    • 84863020661 scopus 로고    scopus 로고
    • Allelespecifc siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fbroblasts
    • Müller, GA, Hansen, U, Xu, Z, Griswold, B, Talan, MI, McDonnell, NB et al. (2012). Allelespecifc siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fbroblasts. FASEB J 26:668-677.
    • (2012) FASEB J , vol.26 , pp. 668-677
    • Müller, G.A.1    Hansen, U.2    Xu, Z.3    Griswold, B.4    Talan, M.I.5    McDonnell, N.B.6
  • 41
    • 84857784900 scopus 로고    scopus 로고
    • Progress toward in vivo use of siRNAs-II
    • Rettig, GR and Behlke, MA (2012). Progress toward in vivo use of siRNAs-II. Mol Ther 20:483-512.
    • (2012) Mol Ther , vol.20 , pp. 483-512
    • Rettig, G.R.1    Behlke, M.A.2
  • 42
    • 84865526525 scopus 로고    scopus 로고
    • Designing chemically modifed oligonucleotides for targeted gene silencing
    • Deleavey, GF and Damha, MJ (2012). Designing chemically modifed oligonucleotides for targeted gene silencing. Chem Biol 19:937-954.
    • (2012) Chem Biol , vol.19 , pp. 937-954
    • Deleavey, G.F.1    Damha, M.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.