Article
Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.
Stem cells and development - 1 Nov 2023
Yang Qiaohui, Li Jialin, Zeng Sicong, Li Zhuo, Liu Xiao, Li Jin, Zhou Wang, Chai Yujiao, Zhou Di
Abstract excerpt
Retinitis pigmentosa (RP) is a prevalent inherited retinal degenerative disease resulting from photoreceptor and pigment epithelial apoptosis. The Rhodopsin (RHO) is the most commonly associated pathogenic gene in RP. However, RHO mutations (c.512C>T P171L) have been infrequently reported, and the RP pathogenesis caused by these mutations remains unclear. The objective of this study was to investigate the impact...
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