Article
Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway.
Nature communications - 24 Jan 2020
Sun Xianding, Zhou Yang, Zhang Ruobin, Wang Zuqiang, Xu Meng, Zhang Dali, Huang Junlan, Luo Fengtao, Li Fangfang, Ni Zhenhong, Zhou Siru, Chen Hangang, Chen Shuai, Chen Liang, Du Xiaolan, Chen Bo, Huang Haiyang, Liu Peng, Yin Liangjun, Qiu Juhui, Chen Di, Deng Chuxia, Xie Yangli, Luo Lingfei, Chen Lin
Abstract excerpt
Congenital scoliosis (CS) is a complex genetic disorder characterized by vertebral malformations. The precise etiology of CS is not fully defined. Here, we identify that mutation in dual serine/threonine and tyrosine protein kinase (dstyk) lead to CS-like vertebral malformations in zebrafish. We demonstrate that the scoliosis in dstyk mutants is related to the wavy and malformed notochord sheath formation and...
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