The PI3KC2β kinase as a therapeutic target for myotubular myopathy

被引：2
作者：
Goret, Marie [1 ]
Laporte, Jocelyn [1 ]
机构：
[1] Univ Strasbourg, CNRS, UMR7104, Inserm,U1258,Inst Genet & Biol Mol & Cellulaire IG, Illkirch Graffenstaden, France
来源：
M S-MEDECINE SCIENCES | 2024年 / 40卷 / 02期
基金：
欧盟地平线“2020”;
关键词：
D O I：
10.1051/medsci/2023208
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：
[No abstract available]
引用
收藏
页码：133 / 136
页数：4
相关论文
共 10 条
[1]   PI3KC2β inactivation stabilizes VE-cadherin junctions and preserves vascular integrity [J].
Anquetil, Typhaine ;
Solinhac, Romain ;
Jaffre, Aude ;
Chicanne, Gaetan ;
Viaud, Julien ;
Darcourt, Jean ;
Orset, Cyrille ;
Geuss, Eva ;
Kleinschnitz, Christoph ;
Vanhaesebroeck, Bart ;
Vivien, Denis ;
Hnia, Karim ;
Larrue, Vincent ;
Payrastre, Bernard ;
Gratacap, Marie-Pierre .
EMBO REPORTS, 2021, 22 (06)
[2]   Beyond PI3Ks: targeting phosphoinositide kinases in disease [J].
Burke, John E. ;
Triscott, Joanna ;
Emerling, Brooke M. ;
Hammond, Gerald R., V .
NATURE REVIEWS DRUG DISCOVERY, 2023, 22 (05) :357-386
[3]   Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy [J].
Dowling, James J. ;
Vreede, Andrew P. ;
Low, Sean E. ;
Gibbs, Elizabeth M. ;
Kuwada, John Y. ;
Bonnemann, Carsten G. ;
Feldman, Eva L. .
PLOS GENETICS, 2009, 5 (02)
[4]   Novel roles of phosphoinositides in signaling, lipid transport, and disease [J].
Hammond, Gerald R. V. ;
Burke, John E. .
CURRENT OPINION IN CELL BIOLOGY, 2020, 63 :57-67
[5]   Centronuclear (myotubular) myopathy [J].
Jungbluth, Heinz ;
Wallgren-Pettersson, Carina ;
Laporte, Jocelyn .
ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)
[6]   A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast [J].
Laporte, J ;
Hu, LJ ;
Kretz, C ;
Mandel, JL ;
Kioschis, P ;
Coy, JF ;
Klauck, SM ;
Poustka, A ;
Dahl, N .
NATURE GENETICS, 1996, 13 (02) :175-182
[7]   mTORC1 activity repression by late endosomal phosphatidylinositol 3,4-bisphosphate [J].
Marat, Andrea L. ;
Wallroth, Alexander ;
Lo, Wen-Ting ;
Mueller, Rainer ;
Norata, Giuseppe Danilo ;
Falasca, Marco ;
Schultz, Carsten ;
Haucke, Volker .
SCIENCE, 2017, 356 (6341) :968-972
[8]   Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice [J].
Massana-Munoz, Xenia ;
Goret, Marie ;
Nattarayan, Vasugi ;
Reiss, David ;
Kretz, Christine ;
Chicanne, Gaetan ;
Payrastre, Bernard ;
Vanhaesebroeck, Bart ;
Laporte, Jocelyn .
JCI INSIGHT, 2023, 8 (09)
[9]   Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance [J].
Ribeiro, Ines ;
Yuan, Lin ;
Tanentzapf, Guy ;
Dowling, James J. ;
Kiger, Amy .
PLOS GENETICS, 2011, 7 (02)
[10]   PIK3C2B inhibition improves function and prolongs survival in rnyotubular myopathy animal models [J].
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. .
JOURNAL OF CLINICAL INVESTIGATION, 2016, 126 (09) :3613-3625
1