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Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin Graphical abstract

Archive ouverte | Muñoz, Xènia Massana | CCSD

International audience. Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopa...

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

Archive ouverte | Massana-Muñoz, Xènia | CCSD

International audience. Phosphoinositides (PIs) are membrane lipids that regulate signal transduction and vesicular trafficking. X-linked centronuclear myopathy (XLCNM), also called myotubular myopathy, results from...

Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration

Archive ouverte | Prokic, Ivana | CCSD

International audience. Skeletal muscle developmentand regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here we focus on th...

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