Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P(2) levels, cell-specific sensitivity to partial loss of...

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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Vaccari, Ilaria, Carbone, Antonietta, Previtali, Stefano Carlo, Mironova, Yevgeniya A., Alberizzi, Valeria, Noseda, Roberta, Rivellini, Cristina, Bianchi, Francesca, Del Carro, Ubaldo, D'Antonio, Maurizio, Lenk, Guy M., Wrabetz, Lawrence, Giger, Roman J., Meisler, Miriam H., Bolino, Alessandra
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
Teme:
Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4275070/
https://ncbi.nlm.nih.gov/pubmed/25187576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu451
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