Published in Mol Ther on February 01, 2004
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
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
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
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
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
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther (2008) 3.28
AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci U S A (2013) 2.71
Long-term effect of gene therapy on Leber's congenital amaurosis. N Engl J Med (2015) 2.68
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2008) 2.06
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors. J Virol (2007) 2.05
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther (2008) 2.00
Treatment of human disease by adeno-associated viral gene transfer. Hum Genet (2006) 1.84
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res (2010) 1.81
Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E. Proc Natl Acad Sci U S A (2004) 1.80
Novel AAV serotypes for improved ocular gene transfer. J Gene Med (2008) 1.80
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med (2007) 1.79
Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci U S A (2007) 1.74
A comprehensive review of retinal gene therapy. Mol Ther (2013) 1.70
AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation. Invest Ophthalmol Vis Sci (2008) 1.68
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med (2006) 1.67
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2008) 1.54
The human visual cortex responds to gene therapy-mediated recovery of retinal function. J Clin Invest (2011) 1.52
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. Gene Ther (2009) 1.48
RPE65: role in the visual cycle, human retinal disease, and gene therapy. Ophthalmic Genet (2009) 1.39
AAV-mediated photoreceptor transduction of the pig cone-enriched retina. Gene Ther (2011) 1.20
Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Hum Gene Ther (2010) 1.19
Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.16
In vivo delivery of recombinant viruses to the fetal murine cochlea: transduction characteristics and long-term effects on auditory function. Mol Ther (2006) 1.15
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Med (2006) 1.11
Stable human FIX expression after 0.9G intrauterine gene transfer of self-complementary adeno-associated viral vector 5 and 8 in macaques. Mol Ther (2011) 1.00
Gene therapy in animal models of autosomal dominant retinitis pigmentosa. Mol Vis (2012) 0.99
S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA. Hum Mol Genet (2013) 0.97
Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase. Invest Ophthalmol Vis Sci (2011) 0.95
Gene therapy for Leber congenital amaurosis: advances and future directions. Graefes Arch Clin Exp Ophthalmol (2012) 0.95
Retinal dystrophies and gene therapy. Eur J Pediatr (2011) 0.94
Halting progressive neurodegeneration in advanced retinitis pigmentosa. J Clin Invest (2015) 0.93
Gene therapy of inherited retinopathies: a long and successful road from viral vectors to patients. Hum Gene Ther (2012) 0.90
AAV-mediated gene transfer in the perinatal period results in expression of FVII at levels that protect against fatal spontaneous hemorrhage. Blood (2011) 0.89
Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice. PLoS One (2011) 0.86
Toward an orofacial gene regulatory network. Dev Dyn (2015) 0.85
AAV-mediated gene therapy in mouse models of recessive retinal degeneration. Curr Mol Med (2012) 0.84
Prospectives for gene therapy of retinal degenerations. Curr Genomics (2012) 0.83
Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis. PLoS One (2012) 0.82
Gene delivery to the retina: from mouse to man. Methods Enzymol (2012) 0.82
Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis. Eur J Hum Genet (2012) 0.82
Gene Therapy of ABCA4-Associated Diseases. Cold Spring Harb Perspect Med (2015) 0.81
Intra-amniotic transient transduction of the periderm with a viral vector encoding TGFβ3 prevents cleft palate in Tgfβ3(-/-) mouse embryos. Mol Ther (2012) 0.80
Dog models for blinding inherited retinal dystrophies. Hum Gene Ther Clin Dev (2015) 0.80
Lung gene therapy-How to capture illumination from the light already present in the tunnel. Genes Dis (2014) 0.77
In utero stem cell transplantation and gene therapy: rationale, history, and recent advances toward clinical application. Mol Ther Methods Clin Dev (2016) 0.76
Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward. Mol Ther (2017) 0.75
Retinal Degeneration and Regeneration-Lessons From Fishes and Amphibians. Curr Pathobiol Rep (2017) 0.75
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther (2008) 8.83
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
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
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
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
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy. EMBO J (2010) 3.90
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79
G proteins and phototransduction. Annu Rev Physiol (2002) 3.74
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Interim results from the international trial of Second Sight's visual prosthesis. Ophthalmology (2012) 3.35
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther (2008) 3.28
Improvement and decline in vision with gene therapy in childhood blindness. N Engl J Med (2015) 3.16
Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation. Neuron (2002) 3.09
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther (2009) 3.07
Physiological features of the S- and M-cone photoreceptors of wild-type mice from single-cell recordings. J Gen Physiol (2006) 3.00
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet (2004) 2.97
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med (2012) 2.87
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. Nat Genet (2003) 2.76
Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2004) 2.72
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci U S A (2013) 2.71
Small interfering RNA (siRNA) targeting VEGF effectively inhibits ocular neovascularization in a mouse model. Mol Vis (2003) 2.68
Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med (2009) 2.57
Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci (2005) 2.51
From candelas to photoisomerizations in the mouse eye by rhodopsin bleaching in situ and the light-rearing dependence of the major components of the mouse ERG. Vision Res (2004) 2.44
Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest (2008) 2.40
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Light-driven translocation of signaling proteins in vertebrate photoreceptors. Trends Cell Biol (2006) 2.36
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet (2004) 2.30
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet (2002) 2.29
Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci U S A (2007) 2.21
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci (2003) 2.18
Phototransduction, dark adaptation, and rhodopsin regeneration the proctor lecture. Invest Ophthalmol Vis Sci (2006) 2.17
Lateral connectivity and contextual interactions in macaque primary visual cortex. Neuron (2002) 2.16
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther (2006) 2.13
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest (2010) 2.13
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci (2006) 2.10
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
Spectral domain optical coherence tomography in mouse models of retinal degeneration. Invest Ophthalmol Vis Sci (2009) 2.08
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci (2008) 2.06
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci (2010) 2.05
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations. Invest Ophthalmol Vis Sci (2008) 2.05
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors. J Virol (2007) 2.05
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
Photoreceptors of Nrl -/- mice coexpress functional S- and M-cone opsins having distinct inactivation mechanisms. J Gen Physiol (2005) 1.99
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet (2003) 1.98
Cone opsin mislocalization in Rpe65-/- mice: a defect that can be corrected by 11-cis retinal. Invest Ophthalmol Vis Sci (2005) 1.95
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res (2005) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93