retinaldehyde and Choroideremia

retinaldehyde has been researched along with Choroideremia* in 1 studies

Reviews

1 review(s) available for retinaldehyde and Choroideremia

ArticleYear
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
    Genes, 2020, 11-27, Volume: 11, Issue:12

    RPE65 isomerase, expressed in the retinal pigmented epithelium (RPE), is an enzymatic component of the retinoid cycle, converting all-trans retinyl ester into 11-cis retinol, and it is essential for vision, because it replenishes the photon capturing 11-cis retinal. To date, almost 200 loss-of-function mutations have been identified within the

    Topics: Age of Onset; Amino Acid Substitution; Animals; Choroideremia; cis-trans-Isomerases; Clinical Trials, Phase I as Topic; DNA, Complementary; Enzyme Replacement Therapy; Female; Gene Knock-In Techniques; Genes, Dominant; Genetic Therapy; Genetic Vectors; Humans; Leber Congenital Amaurosis; Male; Mice; Mutation, Missense; Pedigree; Point Mutation; Proof of Concept Study; Protein Isoforms; Retinaldehyde; Retinitis Pigmentosa

2020