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Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice
Phosphoinositides (PIs) are membrane lipids that regulate signal transduction and vesicular trafficking. X-linked centronuclear myopathy (XLCNM), also called myotubular myopathy, results from loss-of-function mutations in the MTM1 gene, which encodes the myotubularin phosphatidylinositol 3-phosphate...
Autores principales: | Massana-Muñoz, Xènia, Goret, Marie, Nattarayan, Vasugi, Reiss, David, Kretz, Christine, Chicanne, Gaetan, Payrastre, Bernard, Vanhaesebroeck, Bart, Laporte, Jocelyn |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243799/ https://www.ncbi.nlm.nih.gov/pubmed/36943412 http://dx.doi.org/10.1172/jci.insight.151933 |
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