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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...

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Detalles Bibliográficos
Autores principales: Massana-Muñoz, Xènia, Goret, Marie, Nattarayan, Vasugi, Reiss, David, Kretz, Christine, Chicanne, Gaetan, Payrastre, Bernard, Vanhaesebroeck, Bart, Laporte, Jocelyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
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