Article
The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice.
Scientific reports - 5 May 2020
Lewis Tylor R, Shores Camilla R, Cady Martha A, Hao Ying, Arshavsky Vadim Y, Burns Marie E
Abstract excerpt
Retinitis pigmentosa is a retinal degenerative disease that leads to blindness through photoreceptor loss. Rhodopsin is the most frequently mutated protein in this disease. While many rhodopsin mutations have well-understood consequences that lead to cell death, the disease association of several rhodopsin mutations identified in retinitis pigmentosa patients, including F220C and F45L, has been disputed. In this...
Topics
- Animals
- Electrodes
- Kinetics
- Mice
- Mice, Inbred C57BL
- Mice, Transgenic
- Mutation
- Retina
- Retinal Rod Photoreceptor Cells
- Retinitis Pigmentosa
- Rhodopsin