메뉴 건너뛰기




Volumn 7, Issue 8, 2012, Pages

A splice site mutation in Laminin-α2 results in a severe muscular dystrophy and growth abnormalities in Zebrafish

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ ALPHA2;

EID: 84865424405     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043794     Document Type: Article
Times cited : (44)

References (40)
  • 1
    • 33845942225 scopus 로고    scopus 로고
    • The congenital muscular dystrophies: recent advances and molecular insights
    • Mendell JR, Boue DR, Martin PT, (2006) The congenital muscular dystrophies: recent advances and molecular insights. Pediatr Dev Pathol 9: 427-443.
    • (2006) Pediatr Dev Pathol , vol.9 , pp. 427-443
    • Mendell, J.R.1    Boue, D.R.2    Martin, P.T.3
  • 2
    • 80955145770 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: sweet news
    • Theodore M, Morava E, (2011) Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr 23: 581-587.
    • (2011) Curr Opin Pediatr , vol.23 , pp. 581-587
    • Theodore, M.1    Morava, E.2
  • 3
    • 77953546004 scopus 로고    scopus 로고
    • Congenital muscular dystrophies: toward molecular therapeutic interventions
    • Collins J, Bonnemann CG, (2010) Congenital muscular dystrophies: toward molecular therapeutic interventions. Curr Neurol Neurosci Rep 10: 83-91.
    • (2010) Curr Neurol Neurosci Rep , vol.10 , pp. 83-91
    • Collins, J.1    Bonnemann, C.G.2
  • 4
    • 83255162688 scopus 로고    scopus 로고
    • Variable disease severity in Saudi Arabian and Sudanese families with c.3924+2 T & C mutation of LAMA2
    • Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, et al. (2011) Variable disease severity in Saudi Arabian and Sudanese families with c.3924+2 T & C mutation of LAMA2. BMC Res Notes 4: 534.
    • (2011) BMC Res Notes , vol.4 , pp. 534
    • Di Blasi, C.1    Bellafiore, E.2    Salih, M.A.3    Manzini, M.C.4    Moore, S.A.5
  • 5
    • 0034795554 scopus 로고    scopus 로고
    • The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review
    • Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, et al. (2001) The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 38: 649-657.
    • (2001) J Med Genet , vol.38 , pp. 649-657
    • Jones, K.J.1    Morgan, G.2    Johnston, H.3    Tobias, V.4    Ouvrier, R.A.5
  • 6
    • 0028980027 scopus 로고
    • Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
    • Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, et al. (1995) Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11: 216-218.
    • (1995) Nat Genet , vol.11 , pp. 216-218
    • Helbling-Leclerc, A.1    Zhang, X.2    Topaloglu, H.3    Cruaud, C.4    Tesson, F.5
  • 7
    • 77957057876 scopus 로고    scopus 로고
    • Congenital muscular dystrophies with cognitive impairment. A population study
    • Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, et al. (2010) Congenital muscular dystrophies with cognitive impairment. A population study. Neurology 75: 898-903.
    • (2010) Neurology , vol.75 , pp. 898-903
    • Messina, S.1    Bruno, C.2    Moroni, I.3    Pegoraro, E.4    D'Amico, A.5
  • 8
    • 57449098068 scopus 로고    scopus 로고
    • LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression
    • Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L, (2009) LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. Eur J Paediatr Neurol 13: 72-76.
    • (2009) Eur J Paediatr Neurol , vol.13 , pp. 72-76
    • Vigliano, P.1    Dassi, P.2    Di Blasi, C.3    Mora, M.4    Jarre, L.5
  • 9
    • 0032078664 scopus 로고    scopus 로고
    • Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings
    • Topaloglu H, Talim B, Vignier N, Helbling-Leclerc AH, Yetuk M, et al. (1998) Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. Neuromuscul Disord 8: 169-174.
    • (1998) Neuromuscul Disord , vol.8 , pp. 169-174
    • Topaloglu, H.1    Talim, B.2    Vignier, N.3    Helbling-Leclerc, A.H.4    Yetuk, M.5
  • 10
    • 0033064692 scopus 로고    scopus 로고
    • Feeding problems in merosin deficient congenital muscular dystrophy
    • Philpot J, Bagnall A, King C, Dubowitz V, Muntoni F, (1999) Feeding problems in merosin deficient congenital muscular dystrophy. Arch Dis Child 80: 542-547.
    • (1999) Arch Dis Child , vol.80 , pp. 542-547
    • Philpot, J.1    Bagnall, A.2    King, C.3    Dubowitz, V.4    Muntoni, F.5
  • 12
    • 0030465319 scopus 로고    scopus 로고
    • Merosin/laminin-2 and muscular dystrophy
    • Wewer UM, Engvall E, (1996) Merosin/laminin-2 and muscular dystrophy. Neuromuscul Disord 6: 409-418.
    • (1996) Neuromuscul Disord , vol.6 , pp. 409-418
    • Wewer, U.M.1    Engvall, E.2
  • 13
    • 79954523697 scopus 로고    scopus 로고
    • The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies
    • Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, et al. (2011) The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet 20: 1712-1725.
    • (2011) Hum Mol Genet , vol.20 , pp. 1712-1725
    • Gupta, V.1    Kawahara, G.2    Gundry, S.R.3    Chen, A.T.4    Lencer, W.I.5
  • 14
    • 0033391990 scopus 로고    scopus 로고
    • Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency
    • Kuang W, Xu H, Vilquin JT, Engvall E, (1999) Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency. Lab Invest 79: 1601-1613.
    • (1999) Lab Invest , vol.79 , pp. 1601-1613
    • Kuang, W.1    Xu, H.2    Vilquin, J.T.3    Engvall, E.4
  • 15
    • 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 CA, Miller JB, (2005) Diseased muscles that lack dystrophin or laminin-alpha2 have altered compositions and proliferation of mononuclear cell populations. BMC Neurol 5: 7.
    • (2005) BMC Neurol , vol.5 , pp. 7
    • Girgenrath, M.1    Kostek, C.A.2    Miller, J.B.3
  • 16
    • 0030610896 scopus 로고    scopus 로고
    • Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy
    • Miyagoe Y, Hanaoka K, Nonaka I, Hayasaka M, Nabeshima Y, et al. (1997) Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS Lett 415: 33-39.
    • (1997) FEBS Lett , vol.415 , pp. 33-39
    • Miyagoe, Y.1    Hanaoka, K.2    Nonaka, I.3    Hayasaka, M.4    Nabeshima, Y.5
  • 17
    • 46249110939 scopus 로고    scopus 로고
    • A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination
    • Patton BL, Wang B, Tarumi YS, Seburn KL, Burgess RW, (2008) A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination. J Cell Sci 121: 1593-1604.
    • (2008) J Cell Sci , vol.121 , pp. 1593-1604
    • Patton, B.L.1    Wang, B.2    Tarumi, Y.S.3    Seburn, K.L.4    Burgess, R.W.5
  • 18
    • 0028135436 scopus 로고
    • Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene
    • Xu H, Wu XR, Wewer UM, Engvall E, (1994) Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nat Genet 8: 297-302.
    • (1994) Nat Genet , vol.8 , pp. 297-302
    • Xu, H.1    Wu, X.R.2    Wewer, U.M.3    Engvall, E.4
  • 19
    • 0035881763 scopus 로고    scopus 로고
    • Laminin alpha 2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats
    • O'Brien DP, Johnson GC, Liu LA, Guo LT, Engvall E, et al. (2001) Laminin alpha 2 (merosin)-deficient muscular dystrophy and demyelinating neuropathy in two cats. J Neurol Sci 189: 37-43.
    • (2001) J Neurol Sci , vol.189 , pp. 37-43
    • O'Brien, D.P.1    Johnson, G.C.2    Liu, L.A.3    Guo, L.T.4    Engvall, E.5
  • 20
    • 34249857394 scopus 로고    scopus 로고
    • The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy
    • Hall TE, Bryson-Richardson RJ, Berger S, Jacoby AS, Cole NJ, et al. (2007) The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy. Proc Natl Acad Sci U S A 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    Jacoby, A.S.4    Cole, N.J.5
  • 21
    • 12144273121 scopus 로고    scopus 로고
    • In vivo drug discovery in the zebrafish
    • Zon LI, Peterson RT, (2005) In vivo drug discovery in the zebrafish. Nat Rev Drug Discov 4: 35-44.
    • (2005) Nat Rev Drug Discov , vol.4 , pp. 35-44
    • Zon, L.I.1    Peterson, R.T.2
  • 23
    • 79960208675 scopus 로고    scopus 로고
    • Forward and reverse genetic approaches for the analysis of vertebrate development in the zebrafish
    • Lawson ND, Wolfe SA, (2011) Forward and reverse genetic approaches for the analysis of vertebrate development in the zebrafish. Dev Cell 21: 48-64.
    • (2011) Dev Cell , vol.21 , pp. 48-64
    • Lawson, N.D.1    Wolfe, S.A.2
  • 25
    • 0141886430 scopus 로고    scopus 로고
    • Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo
    • Bassett DI, Bryson-Richardson RJ, Daggett DF, Gautier P, Keenan DG, et al. (2003) Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo. Development 130: 5851-5860.
    • (2003) Development , vol.130 , pp. 5851-5860
    • Bassett, D.I.1    Bryson-Richardson, R.J.2    Daggett, D.F.3    Gautier, P.4    Keenan, D.G.5
  • 27
    • 77950960625 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
    • Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, et al. (2010) Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 20: 241-250.
    • (2010) Neuromuscul Disord , vol.20 , pp. 241-250
    • Geranmayeh, F.1    Clement, E.2    Feng, L.H.3    Sewry, C.4    Pagan, J.5
  • 28
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, et al. (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 8: 918-928.
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1    Arechavala-Gomeza, V.2    Feng, L.3    Cirak, S.4    Hunt, D.5
  • 31
    • 41549168514 scopus 로고    scopus 로고
    • Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
    • Hua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR, (2008) Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet 82: 834-848.
    • (2008) Am J Hum Genet , vol.82 , pp. 834-848
    • Hua, Y.1    Vickers, T.A.2    Okunola, H.L.3    Bennett, C.F.4    Krainer, A.R.5
  • 32
    • 45249091505 scopus 로고    scopus 로고
    • Substances that can change alternative splice-site selection
    • Sumanasekera C, Watt DS, Stamm S, (2008) Substances that can change alternative splice-site selection. Biochem Soc Trans 36: 483-490.
    • (2008) Biochem Soc Trans , vol.36 , pp. 483-490
    • Sumanasekera, C.1    Watt, D.S.2    Stamm, S.3
  • 33
    • 84859075862 scopus 로고    scopus 로고
    • Laminin-111 Protein Therapy Reduces Muscle Pathology and Improves Viability of a Mouse Model of Merosin-Deficient Congenital Muscular Dystrophy
    • Rooney JE, Knapp JR, Hodges BL, Wuebbles RD, Burkin DJ (2012) Laminin-111 Protein Therapy Reduces Muscle Pathology and Improves Viability of a Mouse Model of Merosin-Deficient Congenital Muscular Dystrophy. Am J Pathol.
    • (2012) Am J Pathol
    • Rooney, J.E.1    Knapp, J.R.2    Hodges, B.L.3    Wuebbles, R.D.4    Burkin, D.J.5
  • 34
    • 79960289893 scopus 로고    scopus 로고
    • Transgenic overexpression of the alpha7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A
    • Doe JA, Wuebbles RD, Allred ET, Rooney JE, Elorza M, et al. (2011) Transgenic overexpression of the alpha7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. J Cell Sci 124: 2287-2297.
    • (2011) J Cell Sci , vol.124 , pp. 2287-2297
    • Doe, J.A.1    Wuebbles, R.D.2    Allred, E.T.3    Rooney, J.E.4    Elorza, M.5
  • 35
    • 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, Nonaka I, Garcia CA, et al. (2001) Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 11: 350-359.
    • (2001) Neuromuscul Disord , vol.11 , pp. 350-359
    • Hayashi, Y.K.1    Tezak, Z.2    Momoi, T.3    Nonaka, I.4    Garcia, C.A.5
  • 36
    • 0031895132 scopus 로고    scopus 로고
    • Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies
    • Jones KJ, Kim SS, North KN, (1998) Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies. J Med Genet 35: 379-386.
    • (1998) J Med Genet , vol.35 , pp. 379-386
    • Jones, K.J.1    Kim, S.S.2    North, K.N.3
  • 37
    • 70349326558 scopus 로고    scopus 로고
    • Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development
    • Relucio J, Tzvetanova ID, Ao W, Lindquist S, Colognato H, (2009) Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development. J Neurosci 29: 11794-11806.
    • (2009) J Neurosci , vol.29 , pp. 11794-11806
    • Relucio, J.1    Tzvetanova, I.D.2    Ao, W.3    Lindquist, S.4    Colognato, H.5
  • 38
    • 78751526814 scopus 로고    scopus 로고
    • Characterization of the laminin gene family and evolution in zebrafish
    • Sztal T, Berger S, Currie PD, Hall TE, (2011) Characterization of the laminin gene family and evolution in zebrafish. Dev Dyn 240: 422-431.
    • (2011) Dev Dyn , vol.240 , pp. 422-431
    • Sztal, T.1    Berger, S.2    Currie, P.D.3    Hall, T.E.4
  • 40
    • 80052788248 scopus 로고    scopus 로고
    • The zon laboratory guide to positional cloning in zebrafish
    • Zhou Y, Zon LI, (2011) The zon laboratory guide to positional cloning in zebrafish. Methods Cell Biol 104: 287-309.
    • (2011) Methods Cell Biol , vol.104 , pp. 287-309
    • Zhou, Y.1    Zon, L.I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.