Interplay between myotubularins and Ca2+ homeostasis

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research(2024)

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摘要
The myotubularin family, encompassing myotubularin 1 (MTM1) and 14 myotubularin-related proteins (MTMRs), represents a conserved group of phosphatases featuring a protein tyrosine phosphatase domain. Nine members are characterized by an active phosphatase domain C(X)5R, dephosphorylating the D3 position of PtdIns(3)P and PtdIns(3,5)P2. Mutations in myotubularin genes result in human pathologies myopathies, and several neuropathies including X-linked myotubular myopathy and Charcot-Marie-Tooth type 4B. MTM1, MTMR6 and MTMR14 influence contribute to Ca2+ signaling and Ca2+ homeostasis that is as key contributors to many MTM-dependent myopathies and neuropathies. Here we explore the evolving roles of MTM1/MTMRs, unveiling their influence on critical aspects of Ca2+ signaling pathways.
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关键词
Myotubularin,Calcium signaling,Lipid phosphatase,Phosphoinositides,Myotubular myopathy
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