Article
Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders.
Neurobiology of disease - 1 Dec 2025
Wang Xiaojun, Ye Luyu, Banerjee Santasree, Feng Jiabin, Liao Tailin, Wang Ziyi, Qin Jiale, Luo Jianhong, Yang Wei, Xu Junyu, Li Chen
Abstract excerpt
KIF5C, a kinesin-1 motor protein critical for neuronal cargo transport, has been clinically associated with developmental delay and intellectual disability (DD/ID), although its pathogenic mechanisms are yet to be elucidated. Building on our prior identification of a de novo heterozygous KIF5C variant in a patient with DD/ID, a conditional knock-in mouse model was constructed to determine disease pathogenesis....
Topics
Join the communities discussing this publication.