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- W2263697130 abstract "Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating peripheral neuropathy characterized by slowed nerve conduction velocity (NCV), severe axonal loss, and myelin outfolding and infolding. CMT4B is caused by recessive mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2). Myotubularins are a large family of phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2, two PIs that regulate membrane traffic within the endosomal-lysosomal system. Intriguingly, nearly half of the metazoan myotubularins are catalytically inactive. MTMR2 and MTMR13 are active and inactive PI 3-phosphatases, respectively, and the two proteins have been shown to directly associate, although the functional significance of this association is not well understood. In hopes of establishing a mouse model of CMT4B2, we have disrupted the Mtmr13 gene. Mtmr13-deficient mice develop a peripheral neuropathy characterized by reduced NCV and myelin outfolding and infolding. Notably, axonal loss and hypomyelination, two prominent features CMT4B2, are largely not observed in Mtmr13-deficient mice. Thus, loss of Mtmr13 in mice leads to a dysmyelinating peripheral neuropathy with many of the key features of CMT4B2. Our mouse model will likely be an essential tool for future studies of how the loss of MTMR13 leads to CMT4B2." @default.
- W2263697130 created "2016-06-24" @default.
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- W2263697130 date "2008-03-01" @default.
- W2263697130 modified "2023-09-23" @default.
- W2263697130 title "Loss of the inactive phosphatase Mtmr13 leads to a Charcot‐Marie‐Tooth type 4B2‐like peripheral neuropathy in mice" @default.
- W2263697130 doi "https://doi.org/10.1096/fasebj.22.1_supplement.816.8" @default.
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