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Article

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

The Journal of clinical investigation - 1 Sept 2016

Sabha Nesrin, Volpatti Jonathan R, Gonorazky Hernan, Reifler Aaron, Davidson Ann E, Li Xingli, Eltayeb Nadine M, Dall'Armi Claudia, Di Paolo Gilbert, Brooks Susan V, Buj-Bello Ana, Feldman Eva L, Dowling James J

Abstract excerpt

Myotubular myopathy (MTM) is a devastating pediatric neuromuscular disorder of phosphoinositide (PIP) metabolism resulting from mutations of the PIP phosphatase MTM1 for which there are no treatments. We have previously shown phosphatidylinositol-3-phosphate (PI3P) accumulation in animal models of MTM. Here, we tested the hypothesis that lowering PI3P levels may prevent or reverse the MTM disease process. To test...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Structural, Congenital

Share to Phosphatidylinositol 3-Kinases

Share to Protein Tyrosine Phosphatases, Non-Receptor

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Source

Open in PubMed Open full text

Identifiers

PMID: 27548528
DOI: 10.1172/JCI86841
PMCID: PMC5004942

Genes

PIP
MTM1

Provenance

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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