| Popis: |
Variable composition of the cellular membranes influences many cellular events such as endosomal transport, autophagy or cellular signalling. The membrane identity is significantly determined by the specific distribution of phosphoinositide derivatives. These derivatives are specifically distributed among cellular membranes and they are tightly regulated by the interplay of corresponding lipid kinases and phosphatases. Myotubularins (MTMRs) form a family of phosphatases dephosphorylating phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate at the 3rd position of the inositol ring. Similarly to their substrates, MTMRs are involved in various cellular events such as endosomal transport or autophagy. Mutations in MTMR proteins lead to dysregulation of the cellular events and manifestation of severe pathologies. Among the most studied are two hereditary diseases, X- linked myotubular myopathy and Charcot-Marie-Tooth syndrome, caused by mutations in MTM1 and MTMR2 genes, respectively. One of the specific features of the MTMR family is the presence of catalytically inactive members. These members were found to regulate protein stability, activity and localization of their active partners. MTMR10 and MTMR12 are two inactive members of the MTMR family, directly interacting with the... |
