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Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

Archive ouverte | Raess, Matthieu | CCSD

Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the se...

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Archive ouverte | Amoasii, Leonela | CCSD

International audience. Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activit...

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Archive ouverte | Lionello, Valentina | CCSD

International audience

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