Associated Papers
Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.
Moschovaki-Filippidou F et al.
Jci Insight, 2025
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
Giraud Q et al.
Brain : a Journal of Neurology, 2023
Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model.
Samsó P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R et al.
International Journal of Molecular Sciences, 2021
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Raess MA et al.
Human Molecular Genetics, 2017
A phosphoinositide conversion mechanism for exit from endosomes.
Ketel K et al.
Nature, 2016
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Royer B et al.
Embo Reports, 2013
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA et al.
Plos Genetics, 2013
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Amoasii L et al.
Journal of Cell Science, 2013
Class II formin targeting to the cell cortex by binding PI(3,5)P(2) is essential for polarized growth.
van Gisbergen PA et al.
The Journal of Cell Biology, 2012
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Amoasii L et al.
Plos Genetics, 2012
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K et al.
The Journal of Clinical Investigation, 2011
PI(3,5)P(2) controls membrane trafficking by direct activation of mucolipin Ca(2+) release channels in the endolysosome.
Dong XP et al.
Nature Communications, 2010
Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.
Lorenzo O et al.
Journal of Cell Science, 2006
The myotubularin family of lipid phosphatases.
Clague MJ et al.
Traffic (copenhagen, Denmark), 2005
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
Bertini E et al.
Neuromuscular Disorders : Nmd, 2004
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.
Tronchère H et al.
The Journal of Biological Chemistry, 2004
Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport.
Chaussade C et al.
Molecular Endocrinology (baltimore, Md.), 2003
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
Tronchère H et al.
Cellular and Molecular Life Sciences : Cmls, 2003
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
Schaletzky J et al.
Current Biology : Cb, 2003
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Laporte J et al.
Journal of Cell Science, 2002
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
Kim SA et al.
The Journal of Biological Chemistry, 2002
The myotubularin family: novel phosphoinositide regulators.
Nandurkar HH et al.
Iubmb Life, 2002
Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties.
Firestein R et al.
Journal of Cell Science, 2001
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Blondeau F et al.
Human Molecular Genetics, 2000
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
Taylor GS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.
Laporte J et al.
Human Molecular Genetics, 1998