Jared D Chrispell

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PURPOSE RPE65 is an abundant protein necessary for the synthesis of the chromophore 11-cis retinal by the retinal pigment epithelium (RPE). Our purpose was to identify RPE65 surface epitopes, to assess protein interactions, and to evaluate RPE65 expression in eyes from rod- and cone-dominant species using a monoclonal antibody approach. METHODS(More)
RDH12 codes for a member of the family of short-chain alcohol dehydrogenases/reductases proposed to function in the visual cycle that supplies the chromophore 11-cis retinal to photoreceptor cells. Mutations in RDH12 cause severe and progressive childhood onset autosomal-recessive retinal dystrophy, including Leber congenital amaurosis. We generated Rdh12(More)
RDH12 mutations are responsible for early-onset autosomal recessive retinal dystrophy, which results in profound retinal pathology and severe visual handicap in patients. To investigate the function of RDH12 within the network of retinoid dehydrogenases/reductases (RDHs) present in retina, we studied the retinal phenotype of Rdh12-deficient mice. In vivo(More)
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