Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway
oleh: Xianding Sun, Yang Zhou, Ruobin Zhang, Zuqiang Wang, Meng Xu, Dali Zhang, Junlan Huang, Fengtao Luo, Fangfang Li, Zhenhong Ni, Siru Zhou, Hangang Chen, Shuai Chen, Liang Chen, Xiaolan Du, Bo Chen, Haiyang Huang, Peng Liu, Liangjun Yin, Juhui Qiu, Di Chen, Chuxia Deng, Yangli Xie, Lingfei Luo, Lin Chen
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-01-01 |
Deskripsi
Congenital scoliosis is a complex genetic disorder characterized by vertebral malformation. Here, the authors demonstrate that loss of dstyk leads to scoliosis in zebrafish due to dysregulated biogenesis of notochord vacuoles and that DSTYK is required for lysosome biogenesis through mTORC1 regulation.