Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Safety and Efficacy of Subretinal Readministration of a Viral Vector in Large Animals to Treat Congenital Blindness

(2010) D. Amado et al.   Science Translational Medicine

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

(2009) Hui Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

State-of-the-Art Lentiviral Vectors for Research Use: Risk Assessment and Biosafety Recommendations

(2009) Katia Pauwels et al.   CURRENT GENE THERAPY

Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa

(2009) Xue Cai et al.   FASEB JOURNAL

Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year

(2009) Artur V. Cideciyan et al.   HUMAN GENE THERAPY

Adeno-Associated Virus-Mediated Rhodopsin Replacement Provides Therapeutic Benefit in Mice with a Targeted Disruption of the Rhodopsin Gene

(2009) Arpad Palfi et al.   HUMAN GENE THERAPY

Knockout of GARPs and the  -subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity

(2009) Y. Zhang et al.   JOURNAL OF CELL SCIENCE

Loss of the Cholesterol-Binding Protein Prominin-1/CD133 Causes Disk Dysmorphogenesis and Photoreceptor Degeneration

(2009) S. Zacchigna et al.   JOURNAL OF NEUROSCIENCE

Characterization of Genome Integrity for Oversized Recombinant AAV Vector

(2009) Biao Dong et al.   MOLECULAR THERAPY

Effect of Genome Size on AAV Vector Packaging

(2009) Zhijian Wu et al.   MOLECULAR THERAPY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Natural History of Phenotypic Changes in Stargardt Macular Dystrophy

(2009) Saloni Walia et al.   OPHTHALMIC GENETICS

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

(2009) B. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene delivery to the retina: focus on non-viral approaches

(2008) Rangeetha Naik et al.   DRUG DISCOVERY TODAY

Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration

(2008) Eric H. Souied et al.   EXPERIMENTAL EYE RESEARCH

Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

(2008) J Kong et al.   GENE THERAPY

Targeting gene expression to cones with human cone opsin promoters in recombinant AAV

(2008) A M Komáromy et al.   GENE THERAPY

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

(2008) Kenji Sakamoto et al.   HUMAN MOLECULAR GENETICS

Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice

(2008) Mariacarmela Allocca et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel AAV serotypes for improved ocular gene transfer

(2008) Corinna Lebherz et al.   JOURNAL OF GENE MEDICINE

Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY

Detection of Intact rAAV Particles up to 6 Years After Successful Gene Transfer in the Retina of Dogs and Primates

(2008) Knut Stieger et al.   MOLECULAR THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Next generation of adeno-associated virus 2 vectors: Point mutations in tyrosines lead to high-efficiency transduction at lower doses

(2008) L. Zhong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

(2008) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH