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Volumn 22, Issue 9, 2013, Pages 1856-1866

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

Author keywords

[No Author keywords available]

Indexed keywords

CRE RECOMBINASE;

EID: 84875913991     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt038     Document Type: Article
Times cited : (16)

References (31)
  • 2
    • 0029023971 scopus 로고
    • The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
    • Wallgren-Pettersson, C., Clarke, A., Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R.J. and Barth, P.G. (1995) The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J. Med. Genet., 32, 673-679.
    • (1995) J. Med. Genet. , vol.32 , pp. 673-679
    • Wallgren-Pettersson, C.1    Clarke, A.2    Samson, F.3    Fardeau, M.4    Dubowitz, V.5    Moser, H.6    Grimm, T.7    Barohn, R.J.8    Barth, P.G.9
  • 3
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • Herman, G., Finegold, M., Zhao, W., de Gouyon, B. and Metzenberg, A. (1999) Medical complications in long-term survivors with X-linked myotubular myopathy. J. Pediatr., 134, 206-214.
    • (1999) J. Pediatr. , vol.134 , pp. 206-214
    • Herman, G.1    Finegold, M.2    Zhao, W.3    de Gouyon, B.4    Metzenberg, A.5
  • 5
    • 0001960683 scopus 로고
    • Congenital myopathies
    • Mastaglia, F.L. and Detchant, L.W.O. (eds), Churchill Livingstone, Edinburgh
    • Fardeau, M. (1992) Congenital myopathies. In Mastaglia, F.L. and Detchant, L.W.O. (eds), Skeletal muscle pathology. Churchill Livingstone, Edinburgh, pp. 1488-1531.
    • (1992) Skeletal muscle pathology , pp. 1488-1531
    • Fardeau, M.1
  • 6
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • Laporte, J., Hu, L.J., Kretz, C., Mandel, J.L., Kioschis, P., Coy, J.F., Klauck, S.M., Poustka, A. and Dahl, N. (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat. Genet., 13, 175-182.
    • (1996) Nat. Genet. , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3    Mandel, J.L.4    Kioschis, P.5    Coy, J.F.6    Klauck, S.M.7    Poustka, A.8    Dahl, N.9
  • 7
    • 61449203897 scopus 로고    scopus 로고
    • Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
    • Dowling, J.J., Vreede, A.P., Low, S.E., Gibbs, E.M., Kuwada, J.Y., Bonnemann, C.G. and Feldman, E.L. (2009) Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet., 5, e1000372.
    • (2009) PLoS Genet , vol.5
    • Dowling, J.J.1    Vreede, A.P.2    Low, S.E.3    Gibbs, E.M.4    Kuwada, J.Y.5    Bonnemann, C.G.6    Feldman, E.L.7
  • 15
    • 0032836614 scopus 로고    scopus 로고
    • Engineering the mouse genome by sire-specific recombination
    • Metzger, D. and Feil, R. (1999) Engineering the mouse genome by sire-specific recombination. Curr. Opin. Biotechnol., 10, 470-476.
    • (1999) Curr. Opin. Biotechnol. , vol.10 , pp. 470-476
    • Metzger, D.1    Feil, R.2
  • 17
    • 0030671462 scopus 로고    scopus 로고
    • Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice
    • Snyder, R.O., Spratt, S.K., Lagarde, C., Bohl, D., Kaspar, B., Sloan, B., Cohen, L.K. and Danos, O. (1997) Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice. Hum. Gene Ther., 8, 1891-1900.
    • (1997) Hum. Gene Ther. , vol.8 , pp. 1891-1900
    • Snyder, R.O.1    Spratt, S.K.2    Lagarde, C.3    Bohl, D.4    Kaspar, B.5    Sloan, B.6    Cohen, L.K.7    Danos, O.8
  • 18
    • 33746874152 scopus 로고    scopus 로고
    • Adeno-associated virus serotypes: vector toolkit for human gene therapy
    • Wu, Z., Asokan, A. and Samulski, R.J. (2006) Adeno-associated virus serotypes: vector toolkit for human gene therapy. Mol. Ther., 14, 316-327.
    • (2006) Mol. Ther. , vol.14 , pp. 316-327
    • Wu, Z.1    Asokan, A.2    Samulski, R.J.3
  • 20
    • 0037318822 scopus 로고    scopus 로고
    • Signalling pathways that mediate skeletal muscle hypertrophy and atrophy
    • Glass, D.J. (2003) Signalling pathways that mediate skeletal muscle hypertrophy and atrophy. Nat. Cell Biol., 5, 87-90.
    • (2003) Nat. Cell Biol. , vol.5 , pp. 87-90
    • Glass, D.J.1
  • 21
    • 77952626944 scopus 로고    scopus 로고
    • Autophagy in health and disease 3. Involvement of autophagy in muscle atrophy
    • Sandri, M. (2010) Autophagy in health and disease. 3. Involvement of autophagy in muscle atrophy. Am. J. Physiol. Cell Physiol., 298, 1291-1297.
    • (2010) Am. J. Physiol. Cell Physiol. , vol.298 , pp. 1291-1297
    • Sandri, M.1
  • 23
    • 1542740191 scopus 로고    scopus 로고
    • AAV-mediated gene transfer to skeletal muscle
    • Herzog, R.W. (2004) AAV-mediated gene transfer to skeletal muscle. Methods Mol. Biol., 246, 179-194.
    • (2004) Methods Mol. Biol. , vol.246 , pp. 179-194
    • Herzog, R.W.1
  • 25
    • 77950930695 scopus 로고    scopus 로고
    • Centronuclear myopathies: a widening concept
    • Romero, N. (2010) Centronuclear myopathies: a widening concept. Neuromuscul. Disord., 20, 223-228.
    • (2010) Neuromuscul. Disord. , vol.20 , pp. 223-228
    • Romero, N.1
  • 26
    • 34250380637 scopus 로고    scopus 로고
    • Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
    • Pierson, C., Agrawal, P., Blasko, J. and Beggs, A. (2007) Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul. Disord., 17, 562-568.
    • (2007) Neuromuscul. Disord. , vol.17 , pp. 562-568
    • Pierson, C.1    Agrawal, P.2    Blasko, J.3    Beggs, A.4
  • 27
    • 77954695633 scopus 로고    scopus 로고
    • Immuno-analysis and FACS sorting of adult muscle fiber-associated stem/ precursor cells
    • Conboy, M.J., Cerletti, M., Wagers, A.J. and Conboy, I.M. (2010) Immuno-analysis and FACS sorting of adult muscle fiber-associated stem/ precursor cells. Methods Mol. Biol., 621, 165-173.
    • (2010) Methods Mol. Biol. , vol.621 , pp. 165-173
    • Conboy, M.J.1    Cerletti, M.2    Wagers, A.J.3    Conboy, I.M.4
  • 28
    • 79957621364 scopus 로고    scopus 로고
    • Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate
    • Razidlo, G.L., Katafiasz, D. and Taylor, G.S. (2011) Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. J. Biol. Chem., 286, 20005-20019.
    • (2011) J. Biol. Chem. , vol.286 , pp. 20005-20019
    • Razidlo, G.L.1    Katafiasz, D.2    Taylor, G.S.3
  • 30
    • 46249127073 scopus 로고    scopus 로고
    • AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
    • Buj-Bello, A., Fougerousse, F., Schwab, Y., Messaddeq, N., Spehner, D., Pierson, C.R., Durand, M., Kretz, C., Danos, O., Douar, A.M. et al. (2008) AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum. Mol. Genet., 17, 2132-2143.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2132-2143
    • Buj-Bello, A.1    Fougerousse, F.2    Schwab, Y.3    Messaddeq, N.4    Spehner, D.5    Pierson, C.R.6    Durand, M.7    Kretz, C.8    Danos, O.9    Douar, A.M.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.