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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4275070/
https://www.ncbi.nlm.nih.gov/pubmed/25187576
http://dx.doi.org/10.1093/hmg/ddu451

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