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

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...

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主要な著者: Vaccari, Ilaria, Dina, Giorgia, Tronchère, Hélène, Kaufman, Emily, Chicanne, Gaëtan, Cerri, Federica, Wrabetz, Lawrence, Payrastre, Bernard, Quattrini, Angelo, Weisman, Lois S., Meisler, Miriam H., Bolino, Alessandra
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2011
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3197679/
https://ncbi.nlm.nih.gov/pubmed/22028665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002319
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