Article
Autism patient-derived SHANK2BY29X mutation affects the development of ALDH1A1 negative dopamine neuron.
Molecular psychiatry - 1 Oct 2024
Lai Wanjing, Zhao Yingying, Chen Yalan, Dai Zhenzhu, Chen Ruhai, Niu Yimei, Chen Xiaoxia, Chen Shuting, Huang Guanqun, Shan Ziyun, Zheng Jiajun, Hu Yu, Chen Qingpei, Gong Siyi, Kang Sai, Guo Hui, Ma Xiaokuang, Song Youqiang, Xia Kun, Wang Jie, Zhou Libing, So Kwok-Fai, Wang Kai, Qiu Shenfeng, Zhang Li, Chen Jiekai, Shi Lingling
Abstract excerpt
Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions. Different mutations on a single ASD gene contribute to heterogeneity of disease phenotypes, possibly due to functional diversity of generated isoforms. SHANK2, a causative gene in ASD, demonstrates this phenomenon, but there is a scarcity of tools for studying endogenous SHANK2 proteins in an isoform-specific manner. Here, we...
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