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Article

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice.

JCI insight - 8 May 2023

Massana-Muñoz Xènia, Goret Marie, Nattarayan Vasugi, Reiss David, Kretz Christine, Chicanne Gaetan, Payrastre Bernard, Vanhaesebroeck Bart, Laporte Jocelyn

Abstract excerpt

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 (PtdIns3P) lipid phosphatase. No therapy for this disease is currently available. Previous studies showed that loss...

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Identifiers

PMID: 36943412
DOI: 10.1172/jci.insight.151933
PMCID: PMC10243799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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