PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

@article{Sabha2016PIK3C2BII,
  title={PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.},
  author={Nesrin Sabha and Jonathan R Volpatti and Hernan Gonorazky and Aaron N Reifler and Ann E. Davidson and Xingli Li and Nadine M Eltayeb and Claudia Dall'Armi and Gabriella Di Paolo and Susan V. Brooks and Ana Buj-Bello and Eva L. Feldman and James J Dowling},
  journal={The Journal of clinical investigation},
  year={2016},
  volume={126 9},
  pages={
          3613-25
        }
}
Myotubular myopathy (MTM) is a devastating pediatric neuromuscular disorder of phosphoinositide (PIP) metabolism resulting from mutations of the PIP phosphatase MTM1 for which there are no treatments. We have previously shown phosphatidylinositol-3-phosphate (PI3P) accumulation in animal models of MTM. Here, we tested the hypothesis that lowering PI3P levels may prevent or reverse the MTM disease process. To test this, we targeted class II and III PI3 kinases (PI3Ks) in an MTM1-deficient mouse… CONTINUE READING
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