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- W1975467499 abstract "The myotubularin-related genes define a large family of eukaryotic proteins, most of them initially characterized by the presence of a ten-amino acid consensus sequence related to the active sites of tyrosine phosphatases, dual-specificity protein phosphatases and the lipid phosphatase PTEN. Myotubularin (hMTM1), the founder member, is mutated in myotubular myopathy, and a close homolog (hMTMR2) was recently found mutated in a recessive form of Charcot-Marie-Tooth neuropathy. Although myotubularin was thought to be a dual-specificity protein phosphatase, recent results indicate that it is primarily a lipid phosphatase, acting on phosphatidylinositol 3-monophosphate, and might be involved in the regulation of phosphatidylinositol 3-kinase (PI 3-kinase) pathway and membrane trafficking." @default.
- W1975467499 created "2016-06-24" @default.
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- W1975467499 date "2001-04-01" @default.
- W1975467499 modified "2023-10-18" @default.
- W1975467499 title "The myotubularin family: from genetic disease to phosphoinositide metabolism" @default.
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- W1975467499 doi "https://doi.org/10.1016/s0168-9525(01)02245-4" @default.
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