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. 2024 Feb;40(2):133-136.
doi: 10.1051/medsci/2023208. Epub 2024 Feb 27.

[The PI3KC2β kinase as a therapeutic target for myotubular myopathy]

[Article in French]
Marie Goret  1 , Jocelyn Laporte  1
Affiliations
Free article

[The PI3KC2β kinase as a therapeutic target for myotubular myopathy]

[Article in French]
Marie Goret et al. Med Sci (Paris). 2024 Feb.
Free article
No abstract available

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References

    1. Hammond GRV, Burke JE. Novel roles of phosphoinositides in signaling, lipid transport, and disease. Curr Opin Cell Biol 2020; 63 : 57–67.
    1. Burke JE, Triscott J, Emerling BM, Hammond GRV. Beyond PI3Ks : targeting phosphoinositide kinases in disease. Nat Rev Drug Discov 2023; 22 : 357–86.
    1. Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996 ; 13 : 175–182.
    1. Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 2008 ; 3 : 26.
    1. Dowling JJ, Vreede AP, Low SE, et al. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009 ; 5 : e1000372.

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