Interplay between myotubularins and Ca < sup > 2+ < /sup > homeostasis

Biochim Biophys Acta Mol Cell Res. 2024 May 4:119739. doi: 10.1016/j.bbamcr.2024.119739. Online ahead of print.ABSTRACTThe 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.PMID:38710289 | DOI:10.1016/j.bbamcr.2024.119739
Source: Biochimica et Biophysica Acta - Category: Biochemistry Authors: Source Type: research