Mutations de l’amphiphysine 2 (BIN1) dans les myopathies centronucléaires récessives

Anne Toussaint; Anne-Sophie Nicot; Jean-Louis Mandel; Jocelyn Laporte

doi:10.1051/medsci/200723121080

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Volume 23 / Numéro 12 (Décembre 2007)

Med Sci (Paris), 23 12 (2007) 1080-1082

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Numéro		Med Sci (Paris) Volume 23, Numéro 12, Décembre 2007


Page(s)		1080 - 1082
Section		Nouvelles
DOI		https://doi.org/10.1051/medsci/200723121080
Publié en ligne		15 décembre 2007

Pierson CR, Tomczak, K, Agrawal, P, et al. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 2005; 64 : 555–64. [Google Scholar]
Laporte J, Hu, LJ, Kretz, C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996; 13 : 175–82. [Google Scholar]
Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005; 37 : 1207–9. [Google Scholar]
Praefcke GJ, McMahon HT. The dynamin superfamily: universal membrane tubulation and fission molecules ? Nat Rev Mol Cell Biol 2004; 5 : 133–47. [Google Scholar]
Lee E, Marcucci M, Daniell L, et al. Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science 2002; 297 : 1193–6. [Google Scholar]
Razzaq A, Robinson IM, McMahon HT, et al. Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. Genes Dev 2001; 15 : 2967–79. [Google Scholar]
Owen DJ, Wigge P, Vallis Y, et al. Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation. EMBO J 1998; 17 : 5273–85. [Google Scholar]
Nicot AS, Toussaint A, Tosch V, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007; 39 : 1134–9. [Google Scholar]
Chang MY, Boulden J, Sutanto-Ward E, et al. Bin1 ablation in mammary gland delays tissue remodeling and drives cancer progression. Cancer Res 2007; 67 : 100–7. [Google Scholar]
Buj-Bello A, Laugel V, Messaddeq N, et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci USA 2002; 99 : 15060–5. [Google Scholar]

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[1] Pierson CR, Tomczak, K, Agrawal, P, et al. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 2005; 64 : 555–64. [Google Scholar]

[2] Laporte J, Hu, LJ, Kretz, C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996; 13 : 175–82. [Google Scholar]

[3] Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005; 37 : 1207–9. [Google Scholar]

[4] Praefcke GJ, McMahon HT. The dynamin superfamily: universal membrane tubulation and fission molecules ? Nat Rev Mol Cell Biol 2004; 5 : 133–47. [Google Scholar]

[5] Lee E, Marcucci M, Daniell L, et al. Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science 2002; 297 : 1193–6. [Google Scholar]

[6] Razzaq A, Robinson IM, McMahon HT, et al. Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. Genes Dev 2001; 15 : 2967–79. [Google Scholar]

[7] Owen DJ, Wigge P, Vallis Y, et al. Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation. EMBO J 1998; 17 : 5273–85. [Google Scholar]

[8] Nicot AS, Toussaint A, Tosch V, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007; 39 : 1134–9. [Google Scholar]

[9] Chang MY, Boulden J, Sutanto-Ward E, et al. Bin1 ablation in mammary gland delays tissue remodeling and drives cancer progression. Cancer Res 2007; 67 : 100–7. [Google Scholar]

[10] Buj-Bello A, Laugel V, Messaddeq N, et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci USA 2002; 99 : 15060–5. [Google Scholar]