Article
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.
Molecular psychiatry - 1 Jul 2022
Qin Yue, Du Yasong, Chen Liqiang, Liu Yanyan, Xu Wenjing, Liu Ying, Li Ying, Leng Jing, Wang Yalan, Zhang Xiao-Yong, Feng Jianfeng, Zhang Feng, Jin Li, Qiu Zilong, Gong Xiaohong, Wang Hongyan
Abstract excerpt
The genetic etiology and underlying mechanism of autism spectrum disorder (ASD) remain elusive. SHANK family genes (SHANK1/2/3) are well known ASD-related genes. However, little is known about how SHANK missense mutations contribute to ASD. Here, we aimed to clarify the molecular mechanism of and the multilevel neuropathological features induced by Shank1 mutations in knock-in (KI) mice. In this study, by...
Topics
- Animals
- Autism Spectrum Disorder
- Autistic Disorder
- Calcium Signaling
- Disease Models, Animal
- Down-Regulation
- Humans
- Mice
- Mutation
- Nerve Tissue Proteins