A phosphoinositide conversion mechanism for exit from endosomes.
Berlin, Germany. In Nature, Feb 2016
Here we report that surface delivery of endosomal cargo requires hydrolysis of PI(3)P by the phosphatidylinositol 3-phosphatase MTM1, an enzyme whose loss of function leads to X-linked centronuclear myopathy (also called myotubular myopathy) in humans.
Gene therapy in monogenic congenital myopathies.
Winston-Salem, United States. In Methods, Nov 2015
Preclinical findings in animal models appear promising, as illustrated by gene replacement for X-linked myotubular myopathy (XLMTM) in canine and murine models.
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Verdun, France. In Orphanet J Rare Dis, 2014
Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG).
Pathogenic mechanisms in centronuclear myopathies.
London, United Kingdom. In Front Aging Neurosci, 2013
The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive mutations in the MTM1 gene encoding myotubularin ("X-linked myotubular myopathy"), autosomal-dominant mutations in the DNM2 gene encoding dynamin-2 and the BIN1 gene encoding amphiphysin-2 (also named bridging integrator-1, BIN1, or SH3P9), and autosomal-recessive mutations in BIN1, the RYR1 gene encoding the skeletal muscle ryanodine receptor, and the TTN gene encoding titin.