Current therapeutic strategies for P23H RHO-linked RP.

RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY(2014)

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摘要
The first autosomal dominant mutation identified to cause retinitis pigmentosa in the North American population was the substitution of proline to histidine at position 23 of the rhodopsin gene (P23H RHO). Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress. Herein, we review current thinking of this topic.
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关键词
ER stress,RP,P23H,Rhodopsin,Retinal degeneration
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