Mutations in the exocyst component EXOC2 cause severe defects in human brain development

The exocyst, an octameric protein complex, is an essential component of the membrane transport machinery required for tethering and fusion of vesicles at the plasma membrane. We report pathogenic variants in an exocyst subunit, EXOC2 (Sec5). Affected individuals have severe developmental delay, dysm...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Van Bergen, Nicole J., Ahmed, Syed Mukhtar, Collins, Felicity, Cowley, Mark, Vetro, Annalisa, Dale, Russell C., Hock, Daniella H., de Caestecker, Christian, Menezes, Minal, Massey, Sean, Ho, Gladys, Pisano, Tiziana, Glover, Seana, Gusman, Jovanka, Stroud, David A., Dinger, Marcel, Guerrini, Renzo, Macara, Ian G., Christodoulou, John
Formato: Artigo
Idioma:Inglês
Publicado em: Rockefeller University Press 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7537385/
https://ncbi.nlm.nih.gov/pubmed/32639540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20192040
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados