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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Publicat a:Hum Mol Genet
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2015
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Articles
Accés en línia: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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