Article
Mutations of CNTNAP1 led to defects in neuronal development.
JCI insight - 5 Nov 2020
Li Wanxing, Yang Lin, Tang Chuanqing, Liu Kaiyi, Lu Yulan, Wang Huijun, Yan Kai, Qiu Zilong, Zhou Wenhao
Abstract excerpt
Mutations of CNTNAP1 were associated with myelination disorders, suggesting the role of CNTNAP1 in myelination processes. Whether CNTNAP1 may have a role in early cortical neuronal development is largely unknown. In this study, we identified 4 compound heterozygous mutations of CNTNAP1 in 2 Chinese families. Using mouse models, we found that CNTNAP1 is highly expressed in neurons and is located predominantly in...
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