Article
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes.
Signal transduction and targeted therapy - 1 Mar 2024
Zhang Qing, Xing Mengen, Bao Zhengkai, Xu Lu, Bai Yang, Chen Wanqi, Pan Wenhao, Cai Fang, Wang Qunxian, Guo Shipeng, Zhang Jing, Wang Zhe, Wu Yili, Zhang Yun, Li Jia-Da, Song Weihong
Abstract excerpt
Mutations in the Contactin-associated protein-like 2 (CNTNAP2) gene are associated with autism spectrum disorder (ASD), and ectodomain shedding of the CNTNAP2 protein plays a role in its function. However, key enzymes involved in the C-terminal cleavage of CNTNAP2 remain largely unknown, and the effect of ASD-associated mutations on this process and its role in ASD pathogenesis remain elusive. In this report we...
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