retinaldehyde has been researched along with Choroideremia* in 1 studies
1 review(s) available for retinaldehyde and Choroideremia
| Article | Year |
|---|---|
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
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 |