Article
Evidence that proteosome inhibitors and chemical chaperones can rescue the activity of retinol dehydrogenase 12 mutant T49M.
Chemico-biological interactions - 30 May 2011
Lee Seung-Ah, Belyaeva Olga V, Kedishvili Natalia Y
Abstract excerpt
Retinol dehydrogenase 12 (RDH12) is a microsomal enzyme that catalyzes the reduction of all-trans-retinaldehyde to all-trans-retinol when expressed in cells. Mutations in RDH12 cause severe retinal degeneration; however, some of the disease-associated RDH12 mutants retain significant catalytic activity. Our previous study (Lee et al., 2010 [9]) demonstrated that the catalytically active T49M and I51N variants of...
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