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Article

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease.

JCI insight - 22 May 2026

Shearer Andrew, Brooks Melissa L, Chen Maxine M, Samarakoon Thiwanka, Hsieh John, Kondakci Gramoz, Perola Emanuele, Brubaker Jason, Fetalvero Kristina, Schalm Stefanie, Caetano-Lopes Joana

Abstract excerpt

X-linked myotubular myopathy (XLMTM) is a rare genetic disorder that typically presents at birth with progressive muscle weakness and respiratory difficulties and is caused by myotubularin 1 (MTM1) gene mutations. Here, we examine the role of phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2-β (PIK3C2B), a lipid kinase that interacts with MTM1, in XLMTM in various models. We examined the effect...

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Share to Disease Models, Animal
Share to MTM1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Myopathies, Structural, Congenital

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Share to Phosphatidylinositol 3-Kinases

Share to Protein Tyrosine Phosphatases, Non-Receptor

Source

Open in PubMed Open full text

Identifiers

PMID: 41955018
DOI: 10.1172/jci.insight.198568
PMCID: PMC13232722

Genes

PIK3C2B
MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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