Phosphatidylinositol 3-kinase inhibition restores Ca(2+) release defects and prolongs survival in myotubularin-deficient mice

Mutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM). Muscle fibers from MTM1-deficient mice present defects in excitation–contraction (EC) coupling likely responsible for th...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Kutchukian, Candice, Lo Scrudato, Mirella, Tourneur, Yves, Poulard, Karine, Vignaud, Alban, Berthier, Christine, Allard, Bruno, Lawlor, Michael W., Buj-Bello, Ana, Jacquemond, Vincent
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2016
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5167204/
https://ncbi.nlm.nih.gov/pubmed/27911767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1604099113
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