WANTED–Dead or alive: Myotubularins, a large disease-associated protein family

MA Raess, S Friant, BS Cowling, J Laporte - Advances in biological …, 2017 - Elsevier
Myotubularins define a large family of proteins conserved through evolution. Several
members are mutated in different neuromuscular diseases including centronuclear
myopathies and Charcot-Marie-Tooth (CMT) neuropathies, or are linked to a predisposition
to obesity and cancer. While some members have phosphatase activity against the 3-
phosphate of phosphoinositides, regulating the phosphorylation status of PtdIns3P and
PtdIns (3, 5) P 2 implicated in membrane trafficking and autophagy, and producing PtdIns5P …