Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy.

• Tác giả: Lin Che, Jing Chen, Dan He, Na Li, Conway Niu, Baohong Shi, Ren Xu, Jiangfei Yang, Chengrun Yuan, Liangkai Zheng
• Ngôn ngữ: eng
• Thông tin xuất bản: Singapore : Journal of orthopaedic translation , 2025
• Bộ sưu tập: NCBI
• ID: 675424

Tóm tắt

BACKGROUND: Hypochondroplasia (HCH) is a prevalent form of dwarfism linked to mutations in the fibroblast growth factor receptor 3 ( METHODS: We generated an RESULTS: We observed that CONCLUSIONS: Our study provides the first evidence for the pathogenicity of a gain-of-function mutation in TRANSLATIONAL POTENTIAL OF THIS ARTICLE: We first demonstrate that impaired autophagy and enhanced cuproptosis are pivotal in the pathogenesis of HCH. This study not only enlarged the therapeutic potential of targeting cuproptosis for treating