PI3KC2β: A promising therapeutic target in myotubular myopathy

被引：0
|
作者：
Goret, Marie [1 ]
Massana-Munoz, Xenia [1 ]
Nattarayan, Vasugi [1 ]
Reiss, David [1 ]
Laporte, Jocelyn [1 ]
机构：
[1] Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire IGBMC, INSERM U1258, CNRS UMR7104, Illkirch Graffenstaden, France
来源：
M S-MEDECINE SCIENCES | 2023年 / 39卷
关键词：
D O I：
10.1051/medsci/2023134
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
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 PI3KC2 beta prevents the development of this myopathy in a mouse model of the disease, thus identifying a therapeutic target to treat myotubular myopathy in humans.
引用
收藏
页码：32 / 36
页数：5
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