Article
[Structural development study of a novel pharmacological chaperone for folding-defective rhodopsin mutants responsible for retinitis pigmentosa].
Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan - 1 Mar 2011
Ohgane Kenji, Dodo Kosuke, Hashimoto Yuichi
Abstract excerpt
The retinitis pigmentosa (RP)-causing mutant of rhodopsin, Pro23His (P23H) rhodopsin, is folding defective and unable to traffic beyond the endoplasmic reticulum (ER). This ER retention, and in some cases, aggregation are proposed to result in ER-stress and eventually cell death. The endogenous rhodopsin ligand 11-cis-retinal and its isomer 9-cis-retinal have been shown to act as pharmacological chaperones,...
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