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Updated: Jul 11, 2025

Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes
Published on: January 7, 2013
[PI3KC2β: A promising therapeutic target in myotubular myopathy]
Marie Goret1, Xènia Massana-Muñoz1, Vasugi Nattarayan1
1Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, Université de Strasbourg, Illkirch, France.
Abstract:
Myotubular myopathy is a rare disease of genetic origin characterized by significant muscle weakness leading to respiratory disorders and for which no treatment exists today. In this paper, we show that inhibition of the activity of the enzyme PI3KC2β prevents the development of this myopathy in a mouse model of the disease, thus identifying a therapeutic target to treat myotubular myopathy in humans.
Insights
Myotubular myopathy, a rare genetic muscle weakness disorder, currently has no treatment. Researchers found that inhibiting the PI3KC2β enzyme prevented disease development in mice, offering a potential human therapy.
Area of Science:
- Biochemistry
- Genetics
- Neurology
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