Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

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...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Ilaria Vaccari, Giorgia Dina, Hélène Tronchère, Emily Kaufman, Gaëtan Chicanne, Federica Cerri, Lawrence Wrabetz, Bernard Payrastre, Angelo Quattrini, Lois S Weisman, Miriam H Meisler, Alessandra Bolino
Format: Artykuł
Język:English
Wydane: Public Library of Science (PLoS) 2011-10-01
Seria:PLoS Genetics
Dostęp online:http://europepmc.org/articles/PMC3197679?pdf=render

Internet

http://europepmc.org/articles/PMC3197679?pdf=render

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