Published in Ophthalmic Genet on June 01, 2009
Safety Study in Subjects With Leber Congenital Amaurosis | NCT00516477
Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis | NCT00643747
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
Transcriptome analysis and molecular signature of human retinal pigment epithelium. Hum Mol Genet (2010) 2.20
Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics (2011) 1.85
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res (2010) 1.81
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med (2010) 1.56
The new paradigm: retinal pigment epithelium cells generated from embryonic or induced pluripotent stem cells. Pigment Cell Melanoma Res (2010) 1.32
Chemistry of the retinoid (visual) cycle. Chem Rev (2013) 1.28
Toward the defined and xeno-free differentiation of functional human pluripotent stem cell-derived retinal pigment epithelial cells. Mol Vis (2011) 1.25
Inhibition of ceramide biosynthesis preserves photoreceptor structure and function in a mouse model of retinitis pigmentosa. Proc Natl Acad Sci U S A (2010) 1.02
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. Mol Vis (2009) 1.01
Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study. Invest Ophthalmol Vis Sci (2013) 0.99
Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase. Invest Ophthalmol Vis Sci (2011) 0.95
Direct gene transfer with compacted DNA nanoparticles in retinal pigment epithelial cells: expression, repeat delivery and lack of toxicity. Nanomedicine (Lond) (2012) 0.93
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics (2009) 0.87
Transduction of the inner mouse retina using AAVrh8 and AAVrh10 via intravitreal injection. Exp Eye Res (2010) 0.83
Evolution of mammalian Opn5 as a specialized UV-absorbing pigment by a single amino acid mutation. J Biol Chem (2014) 0.82
Adeno-associated Virus as a Mammalian DNA Vector. Microbiol Spectr (2015) 0.82
The role of Bcl-xL in mouse RPE cell survival. Invest Ophthalmol Vis Sci (2011) 0.81
The gene therapy revolution in ophthalmology. Saudi J Ophthalmol (2013) 0.81
Changes in morphology and visual function over time in mouse models of retinal degeneration: an SD-OCT, histology, and electroretinography study. Jpn J Ophthalmol (2016) 0.79
In silico Mapping of Protein Unfolding Mutations for Inherited Disease. Sci Rep (2016) 0.78
Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs. PLoS One (2014) 0.78
Nanofiber Scaffold-Based Tissue-Engineered Retinal Pigment Epithelium to Treat Degenerative Eye Diseases. J Ocul Pharmacol Ther (2016) 0.77
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. Mol Vis (2013) 0.76
Retinal pigment epithelium differentiation of stem cells: current status and challenges. Crit Rev Biomed Eng (2009) 0.76
Molecular aspects of β, β-carotene-9', 10'-oxygenase 2 in carotenoid metabolism and diseases. Exp Biol Med (Maywood) (2016) 0.75
The Silk-protein Sericin Induces Rapid Melanization of Cultured Primary Human Retinal Pigment Epithelial Cells by Activating the NF-κB Pathway. Sci Rep (2016) 0.75
Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech (2017) 0.75
Retinitis Pigmentosa Associated with Glucose-6-Phosphate Dehydrogenase Deficiency. Cureus (2017) 0.75
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30
Gene therapy restores vision in a canine model of childhood blindness. Nat Genet (2001) 7.88
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet (1998) 7.57
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A (2008) 7.16
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet (1997) 4.87
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. Mol Ther (2005) 4.74
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci U S A (2005) 4.67
RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci U S A (2005) 4.61
Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell (2005) 4.51
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A (2005) 4.04
Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. Annu Rev Pharmacol Toxicol (2007) 3.86
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther (2008) 3.28
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A (1998) 3.22
Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis (1998) 2.74
In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther (2004) 2.56
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis (2005) 2.55
Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J Biol Chem (1993) 2.46
New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis. Nat Genet (2001) 2.44
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol Ther (2005) 2.27
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci (2003) 2.18
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther (2006) 2.13
Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases. Prog Retin Eye Res (2003) 2.10
A palmitoylation switch mechanism in the regulation of the visual cycle. Cell (2004) 2.02
Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system. Invest Ophthalmol Vis Sci (2006) 2.01
Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages. Invest Ophthalmol Vis Sci (2005) 1.98
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum Gene Ther (2006) 1.81
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med (2007) 1.79
Rpe65 is a retinyl ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells. J Biol Chem (2003) 1.78
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics (1999) 1.70
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med (2006) 1.67
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Gene Ther (2006) 1.59
Identification of the RPE65 protein in mammalian cone photoreceptors. Invest Ophthalmol Vis Sci (2002) 1.57
RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65-/- mice. Invest Ophthalmol Vis Sci (2006) 1.53
Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging. Invest Ophthalmol Vis Sci (2003) 1.52
Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue. Genet Vaccines Ther (2004) 1.47
A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina. J Neurosci Res (1993) 1.45
Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium. J Biol Chem (1992) 1.41
RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice. Invest Ophthalmol Vis Sci (2007) 1.39
Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. J Biol Chem (2006) 1.38
AAV-mediated gene therapy for retinal disorders: from mouse to man. Gene Ther (2008) 1.36
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Hum Mol Genet (2007) 1.36
RPE65 is an iron(II)-dependent isomerohydrolase in the retinoid visual cycle. J Biol Chem (2005) 1.36
11-cis-retinal reduces constitutive opsin phosphorylation and improves quantum catch in retinoid-deficient mouse rod photoreceptors. J Biol Chem (2002) 1.33
Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments. Invest Ophthalmol Vis Sci (2008) 1.31
In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement. J Hered (2003) 1.30
The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3. Genomics (1994) 1.16
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. Invest Ophthalmol Vis Sci (2008) 1.16
Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum Mol Genet (1995) 1.15
Role of LRAT on the retinoid isomerase activity and membrane association of Rpe65. J Biol Chem (2007) 1.12
The retinal pigment epithelial membrane receptor for plasma retinol-binding protein. Isolation and cDNA cloning of the 63-kDa protein. J Biol Chem (1993) 1.12
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65. FEBS Lett (2006) 1.09
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease. FASEB J (2006) 1.04
Assessment of structure and function over a 3-year period after gene transfer in RPE65-/- dogs. Doc Ophthalmol (2006) 1.00
Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function. Vision Res (2006) 0.99
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. Eur J Hum Genet (1999) 0.96
The roles of three palmitoylation sites of RPE65 in its membrane association and isomerohydrolase activity. Invest Ophthalmol Vis Sci (2006) 0.93
Ultraviolet and middle wavelength sensitive cone responses in the electroretinogram (ERG) of normal and Rpe65 -/- mice. Vision Res (2001) 0.91
Changes in the DC electroretinogram in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res (1992) 0.89
Morphogenesis of rod cells in the retina of the albino rat: a scanning electron microscopic study. Anat Rec (1979) 0.83
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. Bull Mem Acad R Med Belg (2006) 0.82
Lentiviral gene transfer-mediated cone vision restoration in RPE65 knockout mice. Adv Exp Med Biol (2008) 0.81
Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic days. FEBS Lett (1998) 0.80
Expression of cone-photoreceptor-specific antigens in a cell line derived from retinal tumors in transgenic mice. Invest Ophthalmol Vis Sci (2004) 1.92
Efficient non-viral ocular gene transfer with compacted DNA nanoparticles. PLoS One (2006) 1.71
Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors. J Cell Biol (2006) 1.70
The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. Hum Mol Genet (2004) 1.48
A partial structural and functional rescue of a retinitis pigmentosa model with compacted DNA nanoparticles. PLoS One (2009) 1.37
Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression. Invest Ophthalmol Vis Sci (2004) 1.32
The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice. Biochem J (2005) 1.28
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa. FASEB J (2009) 1.22
Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity. J Comp Neurol (2007) 1.20
DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice. J Clin Invest (2012) 1.19
Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate. Invest Ophthalmol Vis Sci (2007) 1.16
Differential requirements for retinal degeneration slow intermolecular disulfide-linked oligomerization in rods versus cones. Hum Mol Genet (2008) 1.15
Outer segment oligomerization of Rds: evidence from mouse models and subcellular fractionation. Biochemistry (2008) 1.12
P2Y(2) receptor agonist INS37217 enhances functional recovery after detachment caused by subretinal injection in normal and rds mice. Invest Ophthalmol Vis Sci (2003) 1.10
Ocular delivery of compacted DNA-nanoparticles does not elicit toxicity in the mouse retina. PLoS One (2009) 1.06
Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. Biochemistry (2005) 1.05
The role of Rds in outer segment morphogenesis and human retinal disease. Ophthalmic Genet (2006) 1.04
Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS. Hum Mol Genet (2010) 1.03
Retinal angiogenesis in the Ins2(Akita) mouse model of diabetic retinopathy. Invest Ophthalmol Vis Sci (2013) 1.02
Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues. Invest Ophthalmol Vis Sci (2003) 0.97
S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA. Hum Mol Genet (2013) 0.97
Nanoparticle-mediated gene transfer specific to retinal pigment epithelial cells. Biomaterials (2011) 0.96
Comparative analysis of DNA nanoparticles and AAVs for ocular gene delivery. PLoS One (2012) 0.96
Nanoparticles for retinal gene therapy. Prog Retin Eye Res (2010) 0.95
Direct gene transfer with compacted DNA nanoparticles in retinal pigment epithelial cells: expression, repeat delivery and lack of toxicity. Nanomedicine (Lond) (2012) 0.93
Drug and gene delivery to the back of the eye: from bench to bedside. Invest Ophthalmol Vis Sci (2014) 0.93
Expression profiling after retinal detachment and reattachment: a possible role for aquaporin-0. Invest Ophthalmol Vis Sci (2008) 0.92
Defects in the outer limiting membrane are associated with rosette development in the Nrl-/- retina. PLoS One (2012) 0.92
Longitudinal decline in lung function: evaluation of interleukin-10 genetic polymorphisms in firefighters. J Occup Environ Med (2004) 0.91
Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy. Biochim Biophys Acta (2011) 0.91
Genetic supplementation of RDS alleviates a loss-of-function phenotype in C214S model of retinitis pigmentosa. Adv Exp Med Biol (2008) 0.90
Late-onset cone photoreceptor degeneration induced by R172W mutation in Rds and partial rescue by gene supplementation. Invest Ophthalmol Vis Sci (2007) 0.90
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene. Biochemistry (2010) 0.90
Structural and functional relationships between photoreceptor tetraspanins and other superfamily members. Cell Mol Life Sci (2011) 0.88
Absence of functional and structural abnormalities associated with expression of EGFP in the retina. Invest Ophthalmol Vis Sci (2004) 0.88
Differential distribution of proteins and lipids in detergent-resistant and detergent-soluble domains in rod outer segment plasma membranes and disks. J Neurochem (2007) 0.88
Gene therapy for Stargardt disease associated with ABCA4 gene. Adv Exp Med Biol (2014) 0.87
Expression and role of p53 in the retina. Invest Ophthalmol Vis Sci (2012) 0.85
A review of therapeutic prospects of non-viral gene therapy in the retinal pigment epithelium. Biomaterials (2013) 0.85
Nonviral ocular gene therapy: assessment and future directions. Curr Opin Mol Ther (2008) 0.85
Differential developmental deficits in retinal function in the absence of either protein tyrosine sulfotransferase-1 or -2. PLoS One (2012) 0.83
Persistence of non-viral vector mediated RPE65 expression: case for viability as a gene transfer therapy for RPE-based diseases. J Control Release (2013) 0.83
RDS in cones does not interact with the beta subunit of the cyclic nucleotide gated channel. Adv Exp Med Biol (2010) 0.82
Mouse models of human retinal disease caused by expression of mutant rhodopsin. A valuable tool for the assessment of novel gene therapies. Adv Exp Med Biol (2003) 0.81
AAV and compacted DNA nanoparticles for the treatment of retinal disorders: challenges and future prospects. Invest Ophthalmol Vis Sci (2011) 0.80
Fibulin 2, a tyrosine O-sulfated protein, is up-regulated following retinal detachment. J Biol Chem (2014) 0.80
Aquaporin-1 expression and conventional aqueous outflow in human eyes. Exp Eye Res (2008) 0.80
A perspective on the role of the extracellular matrix in progressive retinal degenerative disorders. Invest Ophthalmol Vis Sci (2013) 0.80
Synthesis and characterization of glycol chitosan DNA nanoparticles for retinal gene delivery. ChemMedChem (2013) 0.80
Episomal maintenance of S/MAR-containing non-viral vectors for RPE-based diseases. Adv Exp Med Biol (2014) 0.79
A 350 bp region of the proximal promoter of Rds drives cell-type specific gene expression. Exp Eye Res (2010) 0.79
Gene therapy in the Retinal Degeneration Slow model of retinitis pigmentosa. Adv Exp Med Biol (2010) 0.78
The function of oligomerization-incompetent RDS in rods. Adv Exp Med Biol (2010) 0.78
Barriers to productive transfection of trabecular meshwork cells. Mol Vis (2005) 0.78
Focus on molecules: RDS. Exp Eye Res (2009) 0.78
Mislocalization of oligomerization-incompetent RDS is associated with mislocalization of cone opsins and cone transducin. Adv Exp Med Biol (2012) 0.77
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS. FEBS J (2012) 0.77
In vitro analysis of ribozyme-mediated knockdown of an ADRP associated rhodopsin mutation. Adv Exp Med Biol (2008) 0.76
Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds. Adv Exp Med Biol (2006) 0.76
Light/dark translocation of alphatransducin in mouse photoreceptor cells expressing G90D mutant opsin. Adv Exp Med Biol (2006) 0.75
Overexpression of ROM-1 in the cone-dominant retina. Adv Exp Med Biol (2012) 0.75
Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome. PLoS One (2013) 0.75
Retinal degenerations: genetics, mechanisms, and therapies. J Ophthalmol (2011) 0.75
Electrophysiological characterization of rod and cone responses in the baboon nonhuman primate model. Adv Exp Med Biol (2014) 0.75