Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 3.1.1.64 - retinoid isomerohydrolase

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