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Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
Disruption of the RPE-based metabolism of all-trans-retinyl esters to 11-cis-retinal thus appears to underlie the Rpe65-/- phenotype, although cone pigment regeneration may be dependent on a separate pathway. Expand
Safety and efficacy of gene transfer for Leber's congenital amaurosis.
This study investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) and found three patients with LCA2 had an acceptable local and systemic adverse-event profile after delivery of AAV2.hRPE65v2. Expand
Mutations in RPE65 cause Leber's congenital amaurosis
Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
The safety of the intervention and the stability of the improvement in visual and retinal function in these subjects support the use of AAV-mediated gene augmentation therapy for treatment of inherited retinal diseases. Expand
Identification, Expression, and Substrate Specificity of a Mammalian β-Carotene 15,15′-Dioxygenase*
We have identified from mouse the first mammalian β-carotene 15,15′-dioxygenase (β-CD), a crucial enzyme in development and metabolism that governs the de novo entry of vitamin A from plant-derivedExpand
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.
Findings establish a catalytic role, in conjunction with lecithin:retinol acyltransferase, for RPE65 in synthesis of 11-cis- retinol, and its identity as the isomerohydrolase. Expand
The Upstream Region of the Rpe65 Gene Confers Retinal Pigment Epithelium-specific Expression in Vivo and in Vitro and Contains Critical Octamer and E-box Binding Sites*
It is found that octamer and E-box transcription factors play a critical role in the transcriptional regulation of the RPE65 gene. Expand
Intrachoroidal neovascularization in transgenic mice overexpressing vascular endothelial growth factor in the retinal pigment epithelium.
The hypothesis that additional insults to the integrity of Bruch's membrane are required to induce growth of choroidal vessels into the subretinal space as seen in age-related macular degeneration is supported. Expand
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis
It is shown here that light-evoked retinal responses in fact originate from rods, and it is found that lack of RPE65 enables rods to mimic cone function by responding under normally cone-isolating lighting conditions. Expand
Uveoretinitis and pinealitis induced by immunization with interphotoreceptor retinoid-binding protein.
The inflammatory changes induced by IRBP resembled those provoked by S-antigen (S-Ag, but significant differences were noted between the two diseases, and the possible usefulness of the new experimental autoimmune disease is discussed. Expand