Article
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
The Journal of experimental medicine - 5 Oct 2020
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
Abstract excerpt
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, dysmorphism, and brain abnormalities; variability associated with epilepsy; and poor motor skills. Family 1 had two...
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