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...

Full description

Bibliographic Details
Main Authors: Xènia Massana-Muñoz, Marie Goret, Vasugi Nattarayan, David Reiss, Christine Kretz, Gaetan Chicanne, Bernard Payrastre, Bart Vanhaesebroeck, Jocelyn Laporte
Format: Article
Language:English
Published: American Society for Clinical investigation 2023-08-01
Series:JCI Insight
Subjects:
Online Access:https://doi.org/10.1172/jci.insight.151933