Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle

Advances in Biological Regulation

Volumn 52, Issue 1, 2012, Pages 98-107

  Hnia, Karim ^a,b,c,d,e   Kretz, Christine ^a,b,c,d,e   Amoasii, Leonela ^a,b,c,d,e   Böhm, Johann ^a,b,c,d,e   Liu, Xia ^f   Messaddeq, Nadia ^a,b,c,d   Qu, Cheng Kui ^f   Laporte, Jocelyn ^a,b,c,d,e  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e l'alimentation et l'Environnement   (France)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUS;

EID: 84860149268     PISSN: 22124926     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.advenzreg.2011.09.007     Document Type: Article

References (27)

1. Al-Qusairi L., Weiss N., Toussaint A., Berbey C., Messaddeq N., Kretz C., et al. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009, 106:18763-18768.
2. Azzedine H., Bolino A., Taieb T., Birouk N., Di Duca M., Bouhouche A., et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 2003, 72:1141-1153.
3. Blondeau F., Laporte J., Bodin S., Superti-Furga G., Payrastre B., Mandel J.L. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 2000, 9:2223-2229.
4. Bolino A., Muglia M., Conforti F.L., LeGuern E., Salih M.A., Georgiou D.M., et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 2000, 25:17-19.
5. Buj-Bello A., Furling D., Tronchere H., Laporte J., Lerouge T., Butler-Browne G.S., et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 2002, 11:2297-2307.
6. Cowling B.S., Toussaint A., Amoasii L., Koebel P., Ferry A., Davignon L., et al. Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am J Pathol 2011, 178:2224-2235.
7. Delbono O. Expression and regulation of excitation-contraction coupling proteins in aging skeletal muscle. Curr Aging Sci 2011.
8. Dowling J.J., Low S.E., Busta A.S., Feldman E.L. Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. Hum Mol Genet 2011, 19:2668-2681.
9. Dowling J.J., Vreede A.P., Low S.E., Gibbs E.M., Kuwada J.Y., Bonnemann C.G., et al. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009, 5:e1000372.
10. Glass D.J. Signaling pathways perturbing muscle mass. Curr Opin Clin Nutr Metab Care 2011, 13:225-229.
11. Hnia K., Gayraud J., Hugon G., Ramonatxo M., De La Porte S., Matecki S., et al. L-arginine decreases inflammation and modulates the nuclear factor-kappaB/matrix metalloproteinase cascade in mdx muscle fibers. Am J Pathol 2008, 172:1509-1519.
12. Jungbluth H., Wallgren-Pettersson C., Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 2008, 3:26.
13. Laporte J., Bedez F., Bolino A., Mandel J.L. Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet 2003, 12(2):R285-R292.
14. Laporte J., Hu L.J., Kretz C., Mandel J.L., Kioschis P., Coy J.F., et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996, 13:175-182.
15. Lecompte O., Poch O., Laporte J. PtdIns5P regulation through evolution: roles in membrane trafficking?. Trends Biochem Sci 2008, 33:453-460.
16. Previtali S.C., Quattrini A., Bolino A. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. Expert Rev Mol Med 2007, 9:1-16.
17. Romero-Suarez S., Shen J., Brotto L., Hall T., Mo C., Valdivia H.H., et al. Muscle-specific inositide phosphatase (MIP/MTMR14) is reduced with age and its loss accelerates skeletal muscle aging process by altering calcium homeostasis. Aging (Albany NY) 2011, 2:504-513.
18. Senderek J., Bergmann C., Weber S., Ketelsen U.P., Schorle H., Rudnik-Schoneborn S., et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 2003, 12:349-356.
19. Shen J., Yu W.M., Brotto M., Scherman J.A., Guo C., Stoddard C., et al. Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis. Nat Cell Biol 2009, 11:769-776.
20. Taylor G.S., Dixon J.E. PTEN and myotubularins: families of phosphoinositide phosphatases. Methods Enzymol 2003, 366:43-56.
21. Taylor G.S., Maehama T., Dixon J.E. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci U S A 2000, 97:8910-8915.
22. Tosch V., Rohde H.M., Tronchere H., Zanoteli E., Monroy N., Kretz C., et al. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet 2006, 15:3098-3106.
23. Toussaint A., Cowling B.S., Hnia K., Mohr M., Oldfors A., Schwab Y., et al. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol 2011.
24. Tronchere H., Laporte J., Pendaries C., Chaussade C., Liaubet L., Pirola L., et al. Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem 2004, 279:7304-7312.
25. Vergne I., Roberts E., Elmaoued R.A., Tosch V., Delgado M.A., Proikas-Cezanne T., et al. Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. EMBO J 2009, 28:2244-2258.
26. Wishart M.J., Dixon J.E. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Trends Cell Biol 2002, 12:579-585.
27. Yamaguchi S., Homma K., Natori S. A novel egg-derived tyrosine phosphatase, EDTP, that participates in the embryogenesis of Sarcophaga peregrina (flesh fly). Eur J Biochem 1999, 259:946-953.