Article
Elucidating the role of DEAF1 in neurodevelopment and shared molecular pathways in high-risk autism genes using cortical organoids.
Science advances - 11 Sept 2026
Kim Jonghun, Choe Mu Seog, Yang Woo Sub, Lo Cynthia, Liu Hui-Wen, Kwak Tae Hwan, Na Kyuhwan, Kiral Ferdi Ridvan, Xiang Yangfei, Qiu Caihong, Zhong Mei, Lee Maria, Tanaka Yoshiaki, Cakir Bilal, Chung Seok, Park In-Hyun
Abstract excerpt
Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are genetically heterogeneous. DEAF1 has emerged as a key NDD risk gene, with pathogenic variants linked to DEAF1-associated neurodevelopmental disorder (DAND), but its role in human neurodevelopment remains unclear. Human cortical organoids (hCOs) provide a physiologically relevant model that...
Read the complete abstract on PubMedTopics
- Humans
- Organoids
- Neurodevelopment
- Mutation
- DNA-Binding Proteins