Article
Active and inactive pathways in the kinetic mechanism of the G51V retinitis pigmentosa mutant photoreaction.
Biophysical journal - 20 May 2025
Szundi Istvan, Yao Weekie, Chen Eefei, Kliger David S, Farrens David L
Abstract excerpt
Autosomal dominant retinitis pigmentosa is a visual disorder that can result from many different mutations of the rhodopsin gene. In most cases the mutation results in a misfolded rhodopsin protein or a protein that does not bind with the retinal chromophore. Some mutations, however, yield rhodopsins which fold properly and bind the retinal chromophore, yet still result in autosomal dominant retinitis pigmentosa....
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