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...

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Gepubliceerd in:J Exp Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Rockefeller University Press 2020
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Article
Online toegang: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
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