Article
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics - 15 Dec 2005
Thompson Debra A, Janecke Andreas R, Lange Jessica, Feathers Kecia L, Hübner Christian A, McHenry Christina L, Stockton David W, Rammesmayer Gabriele, Lupski James R, Antinolo Guillermo, Ayuso Carmen, Baiget Montserrat, Gouras Peter, Heckenlively John R, den Hollander Anneke, Jacobson Samuel G, Lewis Richard A, Sieving Paul A, Wissinger Bernd, Yzer Suzanne, Zrenner Eberhart, Utermann Gerd, Gal Andreas
Abstract excerpt
Retinoid dehydrogenases/reductases catalyze key oxidation-reduction reactions in the visual cycle that converts vitamin A to 11-cis retinal, the chromophore of the rod and cone photoreceptors. It has recently been shown that mutations in RDH12, encoding a retinol dehydrogenase, result in severe and early-onset autosomal recessive retinal dystrophy (arRD). In a cohort of 1011 individuals diagnosed with arRD, we...
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