Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

In the PI(3,5)P(2) biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Lenk, Guy M., Szymanska, Krystyna, Debska-Vielhaber, Grazyna, Rydzanicz, Malgorzata, Walczak, Anna, Bekiesinska-Figatowska, Monika, Vielhaber, Stefan, Hallmann, Kerstin, Stawinski, Piotr, Buehring, Sonja, Hsu, David A., Kunz, Wolfram S., Meisler, Miriam H., Ploski, Rafal
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5005439/
https://ncbi.nlm.nih.gov/pubmed/27292112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.008
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