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Acne Vulgaris
The specific binding of retinoic acid to RPE65 and approaches to the treatment of macular degeneration.
Adenocarcinoma
Bioinformatics and functional analyses of key genes in smoking-associated lung adenocarcinoma.
Blindness
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Blindness
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.
Blindness
A Gene Scan Study of
Blindness
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Blindness
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Blindness
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
Blindness
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Blindness
AAV2 gene therapy readministration in three adults with congenital blindness.
Blindness
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Blindness
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.
Blindness
AKT3 Gene Transfer Promotes Anabolic Reprogramming and Photoreceptor Neuroprotection in a Pre-clinical Model of Retinitis Pigmentosa.
Blindness
Altered Expression of Retinal Molecular Markers in the Canine RPE65 Model of Leber Congenital Amaurosis.
Blindness
Amaurosis congénita de Leber RPE-65, seguimiento a 7 años.
Blindness
An eye for discovery.
Blindness
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Blindness
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Blindness
Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
Blindness
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease.
Blindness
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
Blindness
Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis.
Blindness
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.
Blindness
Clustered Regularly Interspaced Short Palindromic Repeats: Challenges in Treating Retinal Disease.
Blindness
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Blindness
Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis.
Blindness
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
Blindness
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
Blindness
Correction: Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
Blindness
Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany.
Blindness
CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis.
Blindness
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Blindness
Deletion of M-opsin prevents "M cone" degeneration in a mouse model of Leber congenital amaurosis.
Blindness
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
Blindness
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Blindness
Dog Models for Blinding Inherited Retinal Degenerations.
Blindness
Dog Models for Blinding Inherited Retinal Dystrophies.
Blindness
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Blindness
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
Blindness
Examining the Role of Cone-expressed RPE65 in Mouse Cone Function.
Blindness
Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase.
Blindness
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Blindness
From basic to clinical research: a journey with the retina, the retinal pigment epithelium, the cornea, age-related macular degeneration and hereditary degenerations, as seen in the rear view mirror.
Blindness
From the Cover: Crystal structure of native RPE65, the retinoid isomerase of the visual cycle.
Blindness
Fundus autofluorescence in children and teenagers with hereditary retinal diseases.
Blindness
Gene discovery and prevalence in inherited retinal dystrophies.
Blindness
Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548.
Blindness
Gene therapy beyond luxturna: a new horizon of the treatment for inherited retinal disease.
Blindness
Gene therapy for eye as regenerative medicine? Lessons from RPE65 gene therapy for Leber's Congenital Amaurosis.
Blindness
Gene therapy for inherited retinal degenerations.
Blindness
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Blindness
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.
Blindness
Gene therapy for retinal and choroidal diseases.
Blindness
Gene therapy for RPE65-related retinal disease.
Blindness
Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis.
Blindness
Gene therapy restores vision in a canine model of childhood blindness.
Blindness
Gene Therapy Restores Vision-Dependent Behavior as Well as Retinal Structure and Function in a Mouse Model of RPE65 Leber Congenital Amaurosis.
Blindness
Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber's Congenital Amaurosis Patient With Novel RPE65 Mutations.
Blindness
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis.
Blindness
Hereditary Retinal Dystrophy.
Blindness
Highly efficient retinal gene delivery with helper-dependent adenoviral vectors.
Blindness
Human cone photoreceptor dependence on RPE65 isomerase.
Blindness
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Blindness
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Blindness
Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration.
Blindness
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Blindness
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.
Blindness
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
Blindness
Improvement in vision: a new goal for treatment of hereditary retinal degenerations.
Blindness
In utero gene therapy rescues vision in a murine model of congenital blindness.
Blindness
In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement.
Blindness
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
Blindness
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
Blindness
Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.
Blindness
Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results.
Blindness
Investor Outlook: Significance of the Positive LCA2 Gene Therapy Phase III Results.
Blindness
Key Residues for Catalytic Function and Metal Coordination in a Carotenoid Cleavage Dioxygenase.
Blindness
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
Blindness
Leber's congenital amaurosis and RPE65.
Blindness
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
Blindness
Long-term effect of gene therapy on Leber's congenital amaurosis.
Blindness
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.
Blindness
Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.
Blindness
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
Blindness
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
Blindness
Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel.
Blindness
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Blindness
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.
Blindness
Mutations in RPE65 cause Leber's congenital amaurosis.
Blindness
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Blindness
Nanoparticle-assisted targeted delivery of eye-specific genes to eyes significantly improves the vision of blind mice in vivo.
Blindness
Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65.
Blindness
Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.
Blindness
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.
Blindness
Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis.
Blindness
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
Blindness
Ocular Gene Therapy with Adeno-associated Virus Vectors: Current Outlook for Patients and Researchers.
Blindness
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
Blindness
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Blindness
Pathophysilogical mechanism and treatment strategies for leber congenital amaurosis.
Blindness
Persistence of non-viral vector mediated RPE65 expression: Case for viability as a gene transfer therapy for RPE-based diseases.
Blindness
Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.
Blindness
Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results.
Blindness
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.
Blindness
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Blindness
Predicting the pathogenicity of RPE65 mutations.
Blindness
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Blindness
Protection of Cone Photoreceptor M-Opsin Degradation with 9-Cis-?-Carotene-Rich Alga Dunaliella bardawil in Rpe65(-/-) Mouse Retinal Explant Culture.
Blindness
Pseudo-fovea formation after gene therapy for RPE65-LCA.
Blindness
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
Blindness
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
Blindness
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Blindness
Recent advances in early-onset severe retinal degeneration: more than just basic research.
Blindness
Recent developments in pediatric retina.
Blindness
Recovery of visual functions in a mouse model of Leber congenital amaurosis.
Blindness
Regulation of Retinal Function but Nonrescue of Vision in RPE65-deficient Dogs Treated With Doxycycline-regulatable AAV Vectors.
Blindness
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
Blindness
Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Blindness
Retinal imaging in inherited retinal diseases.
Blindness
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer.
Blindness
RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.
Blindness
Rpe65 is a retinyl ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells.
Blindness
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
Blindness
Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium.
Blindness
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Blindness
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Blindness
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Blindness
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.
Blindness
Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness.
Blindness
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Blindness
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis.
Blindness
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Blindness
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
Blindness
Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.
Blindness
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
Blindness
Subretinal injection of gene therapy vectors and stem cells in the perinatal mouse eye.
Blindness
Successful Gene Therapy in Older Rpe65-Deficient Dogs Following Subretinal Injection of an Adeno-Associated Vector Expressing RPE65.
Blindness
Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration.
Blindness
Temperature sensitive retinoid isomerase activity of RPE65 mutants associated with Leber congenital amaurosis.
Blindness
tgAAG76, an adeno-associated virus delivered gene therapy for the potential treatment of vision loss caused by RPE65 gene abnormalities.
Blindness
The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.
Blindness
The Frequency-Response Electroretinogram Distinguishes Cone and Abnormal Rod Function in rd12 Mice.
Blindness
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of RPE65 and Differentiation from Leber Congenital Amaurosis.
Blindness
The Status of RPE65 Gene Therapy Trials: Safety and Efficacy.
Blindness
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
Blindness
Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65 (-/-) mouse model of Leber's Congenital Amaurosis.
Blindness
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Blindness
Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence.
Blindness
[Diagnostics of inherited retinal degenerations by gene therapy].
Blindness
[Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial].
Blindness
[Molecular analysis of the RPE65 gene in 72 Spanish families with autosomal recessive retinitis pigmentosa]
Blindness
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]
Blindness
[Molecular-cellular mechanisms of retina pathology development in people of various age].
Carcinoma
Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours.
Carcinoma, Basal Cell
Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours.
Carcinoma, Squamous Cell
Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours.
Choroidal Neovascularization
Optimal Inhibition of Choroidal Neovascularization by scAAV2 with VMD2 Promoter-driven Active Rap1a in the RPE.
Choroideremia
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A?>?G in retinoid isomerohydrolase (RPE65) and c.37C?>?T in bestrophin 1 (BEST1).
Choroideremia
Hereditary Retinal Dystrophy.
Choroideremia
Outer Plexiform Layer Structures Are Not Altered Following AAV-Mediated Gene Transfer in Healthy Rat Retina.
Choroideremia
The clinical features of retinal disease due to a dominant mutation in RPE65.
Choroideremia
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.
Color Vision Defects
Hereditary Retinal Dystrophy.
Cone Dystrophy
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Cone-Rod Dystrophies
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
Cone-Rod Dystrophies
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Cone-Rod Dystrophies
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.
Cone-Rod Dystrophies
Leber congenital amaurosis.
Cone-Rod Dystrophies
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.
Cone-Rod Dystrophies
Retinal imaging in inherited retinal diseases.
Dermatitis, Phototoxic
Molecular pharmacodynamics of emixustat in protection against retinal degeneration.
Dermatitis, Phototoxic
Rational Tuning of Visual Cycle Modulator Pharmacodynamics.
Eye Diseases
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.
Eye Diseases
Retinal imaging in inherited retinal diseases.
Eye Diseases
RPE65 is highly uveitogenic in rats.
Eye Diseases
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Eye Diseases
The level of thymic expression of RPE65 inversely correlates with its capacity to induce experimental autoimmune uveitis (EAU) in different rodent strains.
Genetic Diseases, Inborn
From basic to clinical research: a journey with the retina, the retinal pigment epithelium, the cornea, age-related macular degeneration and hereditary degenerations, as seen in the rear view mirror.
Genetic Diseases, Inborn
Voretigene Neparvovec-rzyl for Treatment of RPE65-Mediated Inherited Retinal Diseases: A Model for Ocular Gene Therapy Development.
Gyrate Atrophy
Retinal imaging in inherited retinal diseases.
Hyperglycemia
Retinal gene expression and visually evoked behavior in diabetic Long Evans rats.
Hyperopia
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Ichthyosis
Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
Infections
Regulation of adult hematopoietic stem cells fate for enhanced tissue-specific repair.
Keratoconus
CRB1 GENE MUTATIONS ARE ASSOCIATED WITH KERATOCONUS IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS.
Keratosis, Actinic
Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours.
Leber Congenital Amaurosis
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Leber Congenital Amaurosis
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.
Leber Congenital Amaurosis
A Gene Scan Study of
Leber Congenital Amaurosis
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Leber Congenital Amaurosis
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
Leber Congenital Amaurosis
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Leber Congenital Amaurosis
AAV2 gene therapy readministration in three adults with congenital blindness.
Leber Congenital Amaurosis
Altered Expression of Retinal Molecular Markers in the Canine RPE65 Model of Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Amaurosis congénita de Leber RPE-65, seguimiento a 7 años.
Leber Congenital Amaurosis
An eye for discovery.
Leber Congenital Amaurosis
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Leber Congenital Amaurosis
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.
Leber Congenital Amaurosis
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
Leber Congenital Amaurosis
Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Clustered Regularly Interspaced Short Palindromic Repeats: Challenges in Treating Retinal Disease.
Leber Congenital Amaurosis
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Leber Congenital Amaurosis
Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
Leber Congenital Amaurosis
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
Leber Congenital Amaurosis
Correction: Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
Leber Congenital Amaurosis
CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Leber Congenital Amaurosis
Deletion of M-opsin prevents "M cone" degeneration in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
Leber Congenital Amaurosis
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Leber Congenital Amaurosis
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.
Leber Congenital Amaurosis
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Leber Congenital Amaurosis
From the Cover: Crystal structure of native RPE65, the retinoid isomerase of the visual cycle.
Leber Congenital Amaurosis
Fundus autofluorescence in children and teenagers with hereditary retinal diseases.
Leber Congenital Amaurosis
Gene therapy beyond luxturna: a new horizon of the treatment for inherited retinal disease.
Leber Congenital Amaurosis
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Leber Congenital Amaurosis
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.
Leber Congenital Amaurosis
Gene therapy for RPE65-related retinal disease.
Leber Congenital Amaurosis
Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis.
Leber Congenital Amaurosis
Gene Therapy Restores Vision-Dependent Behavior as Well as Retinal Structure and Function in a Mouse Model of RPE65 Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Human cone photoreceptor dependence on RPE65 isomerase.
Leber Congenital Amaurosis
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Leber Congenital Amaurosis
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Leber Congenital Amaurosis
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Leber Congenital Amaurosis
Improvement in vision: a new goal for treatment of hereditary retinal degenerations.
Leber Congenital Amaurosis
In utero gene therapy rescues vision in a murine model of congenital blindness.
Leber Congenital Amaurosis
In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement.
Leber Congenital Amaurosis
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
Leber Congenital Amaurosis
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
Leber Congenital Amaurosis
Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.
Leber Congenital Amaurosis
Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results.
Leber Congenital Amaurosis
Investor Outlook: Significance of the Positive LCA2 Gene Therapy Phase III Results.
Leber Congenital Amaurosis
Key Residues for Catalytic Function and Metal Coordination in a Carotenoid Cleavage Dioxygenase.
Leber Congenital Amaurosis
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
Leber Congenital Amaurosis
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.
Leber Congenital Amaurosis
Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy.
Leber Congenital Amaurosis
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
Leber Congenital Amaurosis
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
Leber Congenital Amaurosis
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Leber Congenital Amaurosis
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Leber Congenital Amaurosis
Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.
Leber Congenital Amaurosis
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis.
Leber Congenital Amaurosis
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
Leber Congenital Amaurosis
Ocular Gene Therapy with Adeno-associated Virus Vectors: Current Outlook for Patients and Researchers.
Leber Congenital Amaurosis
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
Leber Congenital Amaurosis
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Leber Congenital Amaurosis
Pathophysilogical mechanism and treatment strategies for leber congenital amaurosis.
Leber Congenital Amaurosis
Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results.
Leber Congenital Amaurosis
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.
Leber Congenital Amaurosis
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Leber Congenital Amaurosis
Predicting the pathogenicity of RPE65 mutations.
Leber Congenital Amaurosis
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Leber Congenital Amaurosis
Protection of Cone Photoreceptor M-Opsin Degradation with 9-Cis-?-Carotene-Rich Alga Dunaliella bardawil in Rpe65(-/-) Mouse Retinal Explant Culture.
Leber Congenital Amaurosis
Pseudo-fovea formation after gene therapy for RPE65-LCA.
Leber Congenital Amaurosis
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
Leber Congenital Amaurosis
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Leber Congenital Amaurosis
Recent developments in pediatric retina.
Leber Congenital Amaurosis
Recovery of visual functions in a mouse model of Leber congenital amaurosis.
Leber Congenital Amaurosis
Regulation of Retinal Function but Nonrescue of Vision in RPE65-deficient Dogs Treated With Doxycycline-regulatable AAV Vectors.
Leber Congenital Amaurosis
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
Leber Congenital Amaurosis
Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Leber Congenital Amaurosis
Retinal imaging in inherited retinal diseases.
Leber Congenital Amaurosis
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer.
Leber Congenital Amaurosis
Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium.
Leber Congenital Amaurosis
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Leber Congenital Amaurosis
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis.
Leber Congenital Amaurosis
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Leber Congenital Amaurosis
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
Leber Congenital Amaurosis
Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.
Leber Congenital Amaurosis
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
Leber Congenital Amaurosis
Successful Gene Therapy in Older Rpe65-Deficient Dogs Following Subretinal Injection of an Adeno-Associated Vector Expressing RPE65.
Leber Congenital Amaurosis
Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration.
Leber Congenital Amaurosis
Temperature sensitive retinoid isomerase activity of RPE65 mutants associated with Leber congenital amaurosis.
Leber Congenital Amaurosis
tgAAG76, an adeno-associated virus delivered gene therapy for the potential treatment of vision loss caused by RPE65 gene abnormalities.
Leber Congenital Amaurosis
The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.
Leber Congenital Amaurosis
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of RPE65 and Differentiation from Leber Congenital Amaurosis.
Leber Congenital Amaurosis
The Status of RPE65 Gene Therapy Trials: Safety and Efficacy.
Leber Congenital Amaurosis
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
Leber Congenital Amaurosis
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Leber Congenital Amaurosis
Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence.
Leber Congenital Amaurosis
[Diagnostics of inherited retinal degenerations by gene therapy].
Leber Congenital Amaurosis
[Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial].
Macular Degeneration
Catalytic mechanism of a retinoid isomerase essential for vertebrate vision.
Macular Degeneration
Characterizing temporal and spatial recruitment of systemically administered RPE65-programmed bone marrow-derived cells to the retina in a mouse model of age-related macular degeneration.
Macular Degeneration
Hints for Gentle Submacular Injection in Non-Human Primates Based on Intraoperative OCT Guidance.
Macular Degeneration
Retinal imaging in inherited retinal diseases.
Macular Degeneration
Small Molecule RPE65 Antagonists Limit the Visual Cycle and Prevent Lipofuscin Formation.
Macular Degeneration
Subretinal injection of gene therapy vectors and stem cells in the perinatal mouse eye.
Macular Degeneration
The specific binding of retinoic acid to RPE65 and approaches to the treatment of macular degeneration.
Macular Degeneration
[Molecular-cellular mechanisms of retina pathology development in people of various age].
Melanoma
Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
Melanoma
Thymic expression of peripheral tissue antigens in humans: a remarkable variability among individuals.
Microphthalmos
Endogenous bone marrow derived cells express retinal pigment epithelium cell markers and migrate to focal areas of RPE damage.
Neoplasm Metastasis
Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
Neoplasms
Age-related macular degeneration phenotypes are associated with increased tumor necrosis-alpha and subretinal immune cells in aged Cxcr5 knockout mice.
Neoplasms
Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours.
Neoplasms
Identification of RPE65 in transformed kidney cells.
Nephroma, Mesoblastic
Identification of RPE65 in transformed kidney cells.
Nevus, Pigmented
Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
Night Blindness
Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
Night Blindness
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Night Blindness
Retinal imaging in inherited retinal diseases.
Night Blindness
The specific binding of retinoic acid to RPE65 and approaches to the treatment of macular degeneration.
Optic Atrophy, Hereditary, Leber
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.
Optic Atrophy, Hereditary, Leber
Hereditary Retinal Dystrophy.
Optic Nerve Diseases
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial.
Optic Nerve Diseases
Hereditary Retinal Dystrophy.
Photophobia
Ciliary neurotrophic factor (CNTF) protects retinal cone and rod photoreceptors by suppressing excessive formation of the visual pigments.
Photophobia
Effect of Leu/Met variation at residue 450 on isomerase activity and protein expression of RPE65 and its modulation by variation at other residues.
Photophobia
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Photophobia
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
Photophobia
Regeneration of photopigment is enhanced in mouse cone photoreceptors expressing RPE65 protein.
Photophobia
Voretigene Neparvovec-rzyl for Treatment of RPE65-Mediated Inherited Retinal Diseases: A Model for Ocular Gene Therapy Development.
Retinal Degeneration
A Gene Scan Study of
Retinal Degeneration
A novel RPE65 inhibitor CU239 suppresses visual cycle and prevents retinal degeneration.
Retinal Degeneration
AAV-mediated gene therapy for retinal disorders: from mouse to man.
Retinal Degeneration
Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
Retinal Degeneration
Cellular mechanisms of retinal degenerations: RPE65, ABCA4, RDS, and bicarbonate transporter genes as examples.
Retinal Degeneration
Ciliary neurotrophic factor (CNTF) protects retinal cone and rod photoreceptors by suppressing excessive formation of the visual pigments.
Retinal Degeneration
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Retinal Degeneration
Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany.
Retinal Degeneration
Current management of patients with RPE65 mutation-associated inherited retinal degenerations (IRDs) in Europe. Results of a multinational survey by the European Vision Institute Clinical Research Network EVICR.net.
Retinal Degeneration
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
Retinal Degeneration
Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice.
Retinal Degeneration
Differential Proteomics and Functional Research following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis.
Retinal Degeneration
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant.
Retinal Degeneration
Evaluating Efficiencies of Dual AAV Approaches for Retinal Targeting.
Retinal Degeneration
Evaluation of the canine RPE65 gene in affected dogs with generalized progressive retinal atrophy.
Retinal Degeneration
Examining the Role of Cone-expressed RPE65 in Mouse Cone Function.
Retinal Degeneration
Expansion of first-in-class drug candidates that sequester toxic all-trans-retinal and prevent light-induced retinal degeneration.
Retinal Degeneration
FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and LRAT.
Retinal Degeneration
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.
Retinal Degeneration
Fundus Camera-Delivered Light-Induced Retinal Degeneration in Mice With the RPE65 Leu450Met Variant is Associated With Oxidative Stress and Apoptosis.
Retinal Degeneration
Gene Therapy and Stem Cell Transplantation in Retinal Disease: The New Frontier.
Retinal Degeneration
Gene therapy progress and prospects: the eye.
Retinal Degeneration
Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice.
Retinal Degeneration
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Retinal Degeneration
Identification of key residues determining isomerohydrolase activity of human RPE65.
Retinal Degeneration
Increased susceptibility to fundus camera-delivered light-induced retinal degeneration in mice deficient in oxidative stress response proteins.
Retinal Degeneration
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).
Retinal Degeneration
Inner retinal photoreception independent of the visual retinoid cycle.
Retinal Degeneration
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
Retinal Degeneration
Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations.
Retinal Degeneration
Loss of Extracellular Signal-Regulated Kinase 1/2 in the Retinal Pigment Epithelium Leads to RPE65 Decrease and Retinal Degeneration.
Retinal Degeneration
Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.
Retinal Degeneration
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.
Retinal Degeneration
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.
Retinal Degeneration
Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein.
Retinal Degeneration
Protection of Cone Photoreceptor M-Opsin Degradation with 9-Cis-?-Carotene-Rich Alga Dunaliella bardawil in Rpe65(-/-) Mouse Retinal Explant Culture.
Retinal Degeneration
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
Retinal Degeneration
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
Retinal Degeneration
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Retinal Degeneration
Recent developments in pediatric retina.
Retinal Degeneration
Recovery of visual functions in a mouse model of Leber congenital amaurosis.
Retinal Degeneration
Reply to Townes-Anderson: RPE65 gene therapy does not alter the natural history of retinal degeneration.
Retinal Degeneration
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.
Retinal Degeneration
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
Retinal Degeneration
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy.
Retinal Degeneration
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
Retinal Degeneration
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
Retinal Degeneration
Rpe65 as a modifier gene for inherited retinal degeneration.
Retinal Degeneration
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Retinal Degeneration
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.
Retinal Degeneration
Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.
Retinal Degeneration
The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors.
Retinal Degeneration
The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.
Retinal Degeneration
The Rpe65 Leu450Met variation increases retinal resistance against light-induced degeneration by slowing rhodopsin regeneration.
Retinal Degeneration
The Status of RPE65 Gene Therapy Trials: Safety and Efficacy.
Retinal Degeneration
Topical lambda-cyhalothrin in reducing eye oscillations in a canine model of infantile nystagmus syndrome.
Retinal Degeneration
Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity.
Retinal Degeneration
[Gene therapy for inherited retinal dystrophies.]
Retinal Diseases
Comparative sequence analyses of rhodopsin and RPE65 reveal patterns of selective constraint across hereditary retinal disease mutations.
Retinal Diseases
Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years.
Retinal Diseases
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Retinal Diseases
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Retinal Diseases
Gene Therapy Restores Vision-Dependent Behavior as Well as Retinal Structure and Function in a Mouse Model of RPE65 Leber Congenital Amaurosis.
Retinal Diseases
Immune responses to retinal gene therapy using adeno-associated viral vectors - Implications for treatment success and safety.
Retinal Diseases
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Retinal Diseases
PBN ({alpha}-phenyl-N-tert-butyl nitrone) Prevents Light-induced Degeneration of the Retina by Inhibiting RPE65 Isomerohydrolase Activity.
Retinal Diseases
Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
Retinal Diseases
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Retinal Diseases
Subretinal injection of gene therapy vectors and stem cells in the perinatal mouse eye.
Retinal Diseases
Targeting vascular endothelial growth factor using retinal gene therapy.
Retinal Diseases
The clinical features of retinal disease due to a dominant mutation in RPE65.
Retinal Diseases
The role of RPE65 in inherited retinal diseases.
Retinal Dystrophies
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
Retinal Dystrophies
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Retinal Dystrophies
A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy.
Retinal Dystrophies
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Retinal Dystrophies
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A?>?G in retinoid isomerohydrolase (RPE65) and c.37C?>?T in bestrophin 1 (BEST1).
Retinal Dystrophies
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Retinal Dystrophies
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Retinal Dystrophies
Advances in the molecular understanding of canine retinal diseases.
Retinal Dystrophies
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
Retinal Dystrophies
Cloning and localization of RPE65 mRNA in salamander cone photoreceptor cells1.
Retinal Dystrophies
Comprehensive structure-function analysis of causative variants in retinal pigment epithelium specific 65 kDa protein associated Leber Congenital Amaurosis.
Retinal Dystrophies
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
Retinal Dystrophies
Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
Retinal Dystrophies
Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging.
Retinal Dystrophies
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.
Retinal Dystrophies
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Retinal Dystrophies
Educational paper : Retinal dystrophies and gene therapy.
Retinal Dystrophies
Effect of Leu/Met variation at residue 450 on isomerase activity and protein expression of RPE65 and its modulation by variation at other residues.
Retinal Dystrophies
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Retinal Dystrophies
Fundus autofluorescence in children and teenagers with hereditary retinal diseases.
Retinal Dystrophies
Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium.
Retinal Dystrophies
Gene therapy for RPE65-related retinal disease.
Retinal Dystrophies
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Retinal Dystrophies
Immune responses to retinal gene therapy using adeno-associated viral vectors - Implications for treatment success and safety.
Retinal Dystrophies
Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina.
Retinal Dystrophies
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
Retinal Dystrophies
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Retinal Dystrophies
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Retinal Dystrophies
Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.
Retinal Dystrophies
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.
Retinal Dystrophies
Late presentation of RPE65 retinopathy in three siblings.
Retinal Dystrophies
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
Retinal Dystrophies
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
Retinal Dystrophies
Molecular genetics of Leber congenital amaurosis.
Retinal Dystrophies
Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.
Retinal Dystrophies
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Retinal Dystrophies
Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.
Retinal Dystrophies
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
Retinal Dystrophies
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
Retinal Dystrophies
Pathophysilogical mechanism and treatment strategies for leber congenital amaurosis.
Retinal Dystrophies
Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.
Retinal Dystrophies
Pharmaceutical Development of AAV-Based Gene Therapy Products for the Eye.
Retinal Dystrophies
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
Retinal Dystrophies
Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein.
Retinal Dystrophies
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Retinal Dystrophies
Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutation.
Retinal Dystrophies
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
Retinal Dystrophies
Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies.
Retinal Dystrophies
Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.
Retinal Dystrophies
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
Retinal Dystrophies
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.
Retinal Dystrophies
Retinal Gene Therapy: Current Progress and Future Prospects.
Retinal Dystrophies
RPE65 and retinal dystrophy: Report of new and recurrent mutations.
Retinal Dystrophies
RPE65 is the isomerohydrolase in the retinoid visual cycle.
Retinal Dystrophies
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Retinal Dystrophies
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Retinal Dystrophies
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.
Retinal Dystrophies
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec.
Retinal Dystrophies
Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
Retinal Dystrophies
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
Retinal Dystrophies
Surgical Aspects in Gene Therapy for Inherited Retinal Diseases.
Retinal Dystrophies
The clinical features of retinal disease due to a dominant mutation in RPE65.
Retinal Dystrophies
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Retinal Dystrophies
The new landscape of retinal gene therapy.
Retinal Dystrophies
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of RPE65 and Differentiation from Leber Congenital Amaurosis.
Retinal Dystrophies
Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity.
Retinal Dystrophies
Voretigene Neparvovec for Treating Inherited Retinal Dystrophies Caused by RPE65 Gene Mutations: An Evidence Review Group Perspective of a NICE Highly Specialised Technology Appraisal.
Retinal Dystrophies
Voretigene Neparvovec-rzyl for Treatment of RPE65-Mediated Inherited Retinal Diseases: A Model for Ocular Gene Therapy Development.
Retinal Dystrophies
Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy.
Retinal Dystrophies
Why Some Photoreceptors Die, While Others Remain Dormant: Lessons From RPE65 and LRAT Associated Retinal Dystrophies.
Retinal Telangiectasis
Subretinal Mononuclear Cells in Coats' Disease Studied with RPE65 and CD163: Evidence for Histiocytoid Pigment Epithelial Cells.
Retinitis Pigmentosa
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Retinitis Pigmentosa
A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.
Retinitis Pigmentosa
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Retinitis Pigmentosa
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy.
Retinitis Pigmentosa
Autophagy in Xenopus laevis rod photoreceptors is independently regulated by phototransduction and misfolded RHOP23H.
Retinitis Pigmentosa
Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.
Retinitis Pigmentosa
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Retinitis Pigmentosa
Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A).
Retinitis Pigmentosa
Gene therapy for RPE65-related retinal disease.
Retinitis Pigmentosa
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Retinitis Pigmentosa
Hereditary Retinal Dystrophy.
Retinitis Pigmentosa
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Retinitis Pigmentosa
Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.
Retinitis Pigmentosa
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Retinitis Pigmentosa
Leber congenital amaurosis: a genetic paradigm.
Retinitis Pigmentosa
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
Retinitis Pigmentosa
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Retinitis Pigmentosa
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Retinitis Pigmentosa
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
Retinitis Pigmentosa
Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.
Retinitis Pigmentosa
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Retinitis Pigmentosa
Protection of Cone Photoreceptor M-Opsin Degradation with 9-Cis-?-Carotene-Rich Alga Dunaliella bardawil in Rpe65(-/-) Mouse Retinal Explant Culture.
Retinitis Pigmentosa
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
Retinitis Pigmentosa
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
Retinitis Pigmentosa
RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.
Retinitis Pigmentosa
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Retinitis Pigmentosa
The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.
Retinitis Pigmentosa
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa.
Retinitis Pigmentosa
[Diagnostics of inherited retinal degenerations by gene therapy].
Retinitis Pigmentosa
[Molecular analysis of the RPE65 gene in 72 Spanish families with autosomal recessive retinitis pigmentosa]
Retinitis Pigmentosa
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]
Retinitis Pigmentosa
[Molecular-cellular mechanisms of retina pathology development in people of various age].
retinoid isomerohydrolase deficiency
AAV-mediated gene therapy for retinal disorders: from mouse to man.
retinoid isomerohydrolase deficiency
Chromatic Pupillometry Dissects Function of the Three Different Light-Sensitive Retinal Cell Populations in RPE65 Deficiency.
retinoid isomerohydrolase deficiency
Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.
retinoid isomerohydrolase deficiency
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
retinoid isomerohydrolase deficiency
Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs.
retinoid isomerohydrolase deficiency
Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina.
retinoid isomerohydrolase deficiency
Leber congenital amaurosis: genes, proteins and disease mechanisms.
retinoid isomerohydrolase deficiency
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis.
retinoid isomerohydrolase deficiency
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.
retinoid isomerohydrolase deficiency
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.
retinoid isomerohydrolase deficiency
Outer Plexiform Layer Structures Are Not Altered Following AAV-Mediated Gene Transfer in Healthy Rat Retina.
retinoid isomerohydrolase deficiency
Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results.
retinoid isomerohydrolase deficiency
Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency.
retinoid isomerohydrolase deficiency
Shared decision-making, control preferences and psychological well-being in patients with RPE65 deficiency awaiting experimental gene therapy.
retinoid isomerohydrolase deficiency
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials.
retinoid isomerohydrolase deficiency
Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy.
retinoid isomerohydrolase deficiency
The consortium project to treat RPE65 deficiency in humans.
Retinoschisis
Hereditary Retinal Dystrophy.
Retinoschisis
Outer Plexiform Layer Structures Are Not Altered Following AAV-Mediated Gene Transfer in Healthy Rat Retina.
Retinoschisis
Retinal imaging in inherited retinal diseases.
Sarcoma
Identification of RPE65 in transformed kidney cells.
Sarcoma, Clear Cell
Identification of RPE65 in transformed kidney cells.
Stargardt Disease
Hereditary Retinal Dystrophy.
Stargardt Disease
Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease.
Stargardt Disease
Small Molecule RPE65 Antagonists Limit the Visual Cycle and Prevent Lipofuscin Formation.
Uveitis
Antigen-specificity of antiretinal antibodies in patients with noninfectious uveitis.
Uveitis
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.
Uveitis
The level of thymic expression of RPE65 inversely correlates with its capacity to induce experimental autoimmune uveitis (EAU) in different rodent strains.
Vision Disorders
Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany.
Vision Disorders
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
Vision Disorders
Investor Outlook: Focus on Upcoming LCA2 Gene Therapy Phase III Results.
Vision Disorders
Investor Outlook: Significance of the Positive LCA2 Gene Therapy Phase III Results.
Vision Disorders
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Vision Disorders
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
Vitamin A Deficiency
Comparison of Ocular Pathologies in Vitamin A-Deficient Mice and RPE65 Gene Knockout Mice.
Vitelliform Macular Dystrophy
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A?>?G in retinoid isomerohydrolase (RPE65) and c.37C?>?T in bestrophin 1 (BEST1).
Vitelliform Macular Dystrophy
Retinal imaging in inherited retinal diseases.
Whooping Cough
RPE65 is highly uveitogenic in rats.
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