AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis

The Human Rhodopsin Kinase Promoter in an AAV5 Vector Confers Rod- and Cone-Specific Expression in the Primate Retina

(2012) Shannon E. Boye et al.   HUMAN GENE THERAPY

Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential In Vivo Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors

(2012) E. V. Olshevskaya et al.   JOURNAL OF NEUROSCIENCE

Restoration of Vision in the pde6β-deficient Dog, a Large Animal Model of Rod-cone Dystrophy

(2012) Lolita Petit et al.   MOLECULAR THERAPY

NMNAT1 mutations cause Leber congenital amaurosis

(2012) Marni J Falk et al.   NATURE GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia

(2012) Ji-jing Pang et al.   PLoS One

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

(2012) W. A. Beltran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations

(2011) Samuel G. Jacobson   ARCHIVES OF OPHTHALMOLOGY

Enzymatic Properties and Regulation of the Native Isozymes of Retinal Membrane Guanylyl Cyclase (RetGC) from Mouse Photoreceptors

(2011) Igor V. Peshenko et al.   BIOCHEMISTRY

Novel adeno-associated viral vectors for retinal gene therapy

(2011) L H Vandenberghe et al.   GENE THERAPY

Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency

(2011) Marija Mihelec et al.   HUMAN GENE THERAPY

Fighting Blindness with Adeno-Associated Virus Serotype 8

(2011) Alberto Auricchio   HUMAN GENE THERAPY

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

(2011) L. S. Carvalho et al.   HUMAN MOLECULAR GENETICS

The human visual cortex responds to gene therapy–mediated recovery of retinal function

(2011) Manzar Ashtari et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel recessive GUCY2D mutation causing cone–rod dystrophy and not Leber's congenital amaurosis

(2010) Sibel A Ugur Iseri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency

(2010) J Pang et al.   GENE THERAPY

Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

(2010) Basil S. Pawlyk et al.   HUMAN GENE THERAPY

AAV Delivery of Wild-Type Rhodopsin Preserves Retinal Function in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa

(2010) Haoyu Mao et al.   HUMAN GENE THERAPY

Gene therapy rescues cone function in congenital achromatopsia

(2010) András M. Komáromy et al.   HUMAN MOLECULAR GENETICS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse

(2010) Shannon E. Boye et al.   PLoS One

Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78

(2010) M. S. Gorbatyuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

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

Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations

(2009) X Sun et al.   GENE THERAPY

Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion

(2009) Sukanya Karan et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Gene therapy for red–green colour blindness in adult primates

(2009) Katherine Mancuso et al.   NATURE

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

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

A Role for GCAP2 in Regulating the Photoresponse

(2008) Clint L. Makino et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Speed, Spatial, and Temporal Tuning of Rod and Cone Vision in Mouse

(2008) Y. Umino et al.   JOURNAL OF NEUROSCIENCE

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

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