Article
Dark noise and retinal degeneration from D190N-rhodopsin.
Proceedings of the National Academy of Sciences of the United States of America - 15 Sept 2020
Silverman Daniel, Chai Zuying, Yue Wendy W S, Ramisetty Sravani Keerthi, Bekshe Lokappa Sowmya, Sakai Kazumi, Frederiksen Rikard, Bina Parinaz, Tsang Stephen H, Yamashita Takahiro, Chen Jeannie, Yau King-Wai
Abstract excerpt
Numerous rhodopsin mutations have been implicated in night blindness and retinal degeneration, often with unclear etiology. D190N-rhodopsin (D190N-Rho) is a well-known inherited human mutation causing retinitis pigmentosa. Both higher-than-normal spontaneous-isomerization activity and misfolding/mistargeting of the mutant protein have been proposed as causes of the disease, but neither explanation has been...
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