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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Mol Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2015
विषय:
Articles
ऑनलाइन पहुंच: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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