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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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Bibliografiske detaljer
Principais autores: Xènia Massana-Muñoz, Marie Goret, Vasugi Nattarayan, David Reiss, Christine Kretz, Gaetan Chicanne, Bernard Payrastre, Bart Vanhaesebroeck, Jocelyn Laporte
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical investigation 2023-08-01
Serier:JCI Insight
Fag:
Online adgang:https://doi.org/10.1172/jci.insight.151933
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