Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

Gucy2f zebrafish knockdown – a model for Gucy2d-related leber congenital amaurosis

(2012) Hadas Stiebel-Kalish et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

(2011) Artur V. Cideciyan et al.   HUMAN MOLECULAR GENETICS

Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations

(2011) Sanae Sakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Photoreceptor Signaling: Supporting Vision across a Wide Range of Light Intensities

(2011) Vadim Y. Arshavsky et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ANATOMICAL CORRELATES TO THE BANDS SEEN IN THE OUTER RETINA BY OPTICAL COHERENCE TOMOGRAPHY

(2011) Richard F Spaide et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope

(2011) David Merino et al.   Biomedical Optics Express

The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders

(2010) Alexa N. Bramall et al.   Annual Review of Neuroscience

Activation of Retinal Guanylyl Cyclase RetGC1 by GCAP1: Stoichiometry of Binding and Effect of New LCA-Related Mutations

(2010) Igor V. Peshenko et al.   BIOCHEMISTRY

Light to sight: milestones in phototransduction

(2010) Harris Ripps   FASEB JOURNAL

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

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

Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa

(2010) Saloni Walia et al.   OPHTHALMOLOGY

Lessons from Photoreceptors: Turning Off G-Protein Signaling in Living Cells

(2010) Marie E. Burns et al.   PHYSIOLOGY

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

Parallel visual cycles in the zebrafish retina

(2010) Valerie C. Fleisch et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Phototransduction Motifs and Variations

(2009) King-Wai Yau et al.   CELL

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

(2009) T. Maeda et al.   HUMAN MOLECULAR GENETICS

Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion

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

Guanylate cyclases and associated activator proteins in retinal disease

(2009) David M. Hunt et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis

(2009) Artur V. Cideciyan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leber congenital amaurosis: Genes, proteins and disease mechanisms

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