Article
Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.
Cell reports - 26 Mar 2024
Adams Jason W, Vinokur Annabelle, de Souza Janaína S, Austria Charles, Guerra Bruno S, Herai Roberto H, Wahlin Karl J, Muotri Alysson R
Abstract excerpt
Individuals with Williams syndrome (WS), a neurodevelopmental disorder caused by hemizygous loss of 26-28 genes at 7q11.23, characteristically portray a hypersocial phenotype. Copy-number variations and mutations in one of these genes, GTF2I, are associated with altered sociality and are proposed to underlie hypersociality in WS. However, the contribution of GTF2I to human neurodevelopment remains poorly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.