PHOSPHATIDYLINOSITOL 3-KINASE INHIBITION RESTORES CA2+RELEASE DEFECTS AND PROLONGS SURVIVAL IN MYOTUBULARIN-DEFICIENT MICE
Candice Kutchukian, Mirella Lo Scrudato, Yves Tourneur, Karine Poulard, Alban Vignaud, Christine Berthier, Bruno Allard, Michael W. Lawlor, Ana Buj-Bello, and Vincent Jacquemond
Myotubular myopathy is a fatal disease resulting from deficiency in the phosphoinositide phosphatase MTM1. Kutchukian et al. (2016) have now identified critical pathophysiological alterations of Ca2+ signaling which are involved in the disease and have revealed the benefit of a pharmacological treatment.
