Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies

@inproceedings{Vaccari2011GeneticIB,
  title={Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies},
  author={Ilaria Vaccari and Giorgia Dina and H{\'e}l{\`e}ne Tronch{\`e}re and Emily L. Kaufman and Ga{\"e}tan Chicanne and Federica Cerri and Lawrence Wrabetz and Bernard Payrastre and Angelo Quattrini and Lois S Weisman and Miriam H. Meisler and Alessandra Bolino},
  booktitle={PLoS genetics},
  year={2011}
}
We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. MTMR2 dephosphorylates both PtdIns3P and PtdIns(3,5)P(2), thereby regulating membrane trafficking. However, the function of MTMR2 and the role of the MTMR2 phospholipid phosphatase activity in vivo in the nerve still remain to be assessed. Mutations… CONTINUE READING

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