Article
A new rhodopsin R135W mutation induces endoplasmic reticulum stress and apoptosis in retinal pigment epithelial cells.
Journal of cellular physiology - 1 Aug 2019
Yu Yixin, Xia Xiaobo, Li Haibo, Zhang Yangzhou, Zhou Xiaoyun, Jiang Haibo
Abstract excerpt
Rhodopsin mutations are associated with the autosomal-dominant form of retinitis pigmentosa (RP). Here we report simultaneous occurrence of RP associated with bilateral nanophthalmos and acute angle-closure glaucoma in patient with a new mutation in rhodopsin (R135W). ARPE-19 cells were transfected with myc-tagged wild-type (WT) and R135W rhodopsin constructs. The half-life of WT and R135W rhodopsin was analyzed...
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