Article
Enhanced Endocytosis and Mitochondrial Stress Underlie Severe Retinitis Pigmentosa With RHO P347L Mutant.
Investigative ophthalmology & visual science - 1 Jul 2026
Hang Chenyue, Shi Xinchao, Zhao Tianyuan, Li Jianqing, Zhang Ting, Chen Zhixuan, Wu Yidong, Zhou Yuhui, Wu Shuang, Jiao Yutian, Wang Yazhi, Chen Heng, Sun Junran, Li Tong, Zhang Jian, Jia Huixun, Wan Xiaoling, Li Xiaosa, Chen Jieqiong, Yu Bo, Sun Xiaodong
Abstract excerpt
Purpose: RHO mutations are the primary cause of autosomal dominant retinitis pigmentosa (adRP), with Class 1 mutations typically exhibiting more severe phenotypes than Class 2. This study aims to clarify the mechanistic basis for this clinical disparity by systematically comparing protein degradation pathways, mitochondrial stress, and neuroinflammation. Methods: Humanized mouse lines carrying Class 1 (P347L) or...
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