Related references
Note: Only part of the references are listed.Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
Samuel G. Jacobson et al.
ARCHIVES OF OPHTHALMOLOGY (2012)
Gucy2f zebrafish knockdown - a model for Gucy2d-related leber congenital amaurosis
Hadas Stiebel-Kalish et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Photoreceptor Signaling: Supporting Vision across a Wide Range of Light Intensities
Vadim Y. Arshavsky et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential In Vivo Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors
Elena V. Olshevskaya et al.
JOURNAL OF NEUROSCIENCE (2012)
Macular Function in Macular Degenerations: Repeatability of Microperimetry as a Potential Outcome Measure for ABCA4-Associated Retinopathy Trials
Artur V. Cideciyan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Enzymatic Properties and Regulation of the Native Isozymes of Retinal Membrane Guanylyl Cyclase (RetGC) from Mouse Photoreceptors
Igor V. Peshenko et al.
BIOCHEMISTRY (2011)
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
Marija Mihelec et al.
HUMAN GENE THERAPY (2011)
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
Artur V. Cideciyan et al.
HUMAN MOLECULAR GENETICS (2011)
Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations
Sanae Sakami et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
ANATOMICAL CORRELATES TO THE BANDS SEEN IN THE OUTER RETINA BY OPTICAL COHERENCE TOMOGRAPHY Literature Review and Model
Richard F. Spaide et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2011)
Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope
David Merino et al.
BIOMEDICAL OPTICS EXPRESS (2011)
Human Retinal Disease from AIPL1 Gene Mutations: Foveal Cone Loss with Minimal Macular Photoreceptors and Rod Function Remaining
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Long-term Preservation of Cone Photoreceptors and Restoration of Cone Function by Gene Therapy in the Guanylate Cyclase-1 Knockout (GC1KO) Mouse
Sanford L. Boye et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Human CRB1-Associated Retinal Degeneration: Comparison with the rd8 Crb1-Mutant Mouse Model
Tomas S. Aleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders
Alexa N. Bramall et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (2010)
Activation of Retinal Guanylyl Cyclase RetGC1 by GCAP1: Stoichiometry of Binding and Effect of New LCA-Related Mutations
Igor V. Peshenko et al.
BIOCHEMISTRY (2010)
Light to sight: milestones in phototransduction
Harris Ripps
FASEB JOURNAL (2010)
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion
Sukanya Karan et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2010)
Guanylate cyclases and associated activator proteins in retinal disease
David M. Hunt et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2010)
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Alan F. Wright et al.
NATURE REVIEWS GENETICS (2010)
Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa
Saloni Walia et al.
OPHTHALMOLOGY (2010)
Lessons from Photoreceptors: Turning Off G-Protein Signaling in Living Cells
Marie E. Burns et al.
PHYSIOLOGY (2010)
Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse
Shannon E. Boye et al.
PLOS ONE (2010)
Parallel visual cycles in the zebrafish retina
Valerie C. Fleisch et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2010)
Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis
Sirichai Pasadhika et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Phototransduction Motifs and Variations
King-Wai Yau et al.
CELL (2009)
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate
Tadao Maeda et al.
HUMAN MOLECULAR GENETICS (2009)
Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis
Artur V. Cideciyan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Disease Boundaries in the Retina of Patients with Usher Syndrome Caused by MYO7A Gene Mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Retinal Laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations
Tomas S. Aleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Leber congenital amaurosis - A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture
Edwin M. Stone
AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)
Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments
Andreas Helten et al.
JOURNAL OF NEUROCHEMISTRY (2007)
Centrosomal,Ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of Photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis
Artur V. Cideciyan et al.
HUMAN MUTATION (2007)
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
Francesca Simonelli et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark
Michael L. Woodruff et al.
JOURNAL OF NEUROSCIENCE (2007)
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
Alejandro J. Roman et al.
PHYSIOLOGICAL MEASUREMENT (2007)
Activation and inhibition of photoreceptor guanylyl cyclase by guanylyl cyclase activating protein 1 (GCAP-1)
Igor V. Peshenko et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
Geoffrey K. Aguirre et al.
PLOS MEDICINE (2007)
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
Sarnuel G. Jacobson et al.
OPHTHALMOLOGY (2007)
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations
Artur V. Cideciyan et al.
JOURNAL OF THE OPTICAL SOCIETY OF AMERICA A-OPTICS IMAGE SCIENCE AND VISION (2007)
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
Wolfgang Baehr et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
RDH12 and RPE65, visual cycle genes causing Leber congenital amaurosis, differ in disease expression
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1
Shannon E. Haire et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness
Melissa L. Williams et al.
PLOS MEDICINE (2006)
Controlling the gain of rod-mediated signals in the mammalian retina
FA Dunn et al.
JOURNAL OF NEUROSCIENCE (2006)
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
S Yzer et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
SG Jacobson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
AJ Roman et al.
EXPERIMENTAL EYE RESEARCH (2005)
Impairment of the transient pupillary light reflex in Rpe65-/- mice and humans with Leber congenital amaurosis
TS Aleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice
JE Coleman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Factors that determine Ca2+ sensitivity of photoreceptor guanylyl cyclase.: Kinetic analysis of the interaction between the Ca2+-bound and the Ca2+-free guanylyl cyclase activating proteins (GCAPs) and recombinant photoreceptor guanylyl cyclase 1 (RetGC-1)
IV Peshenko et al.
BIOCHEMISTRY (2004)
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
S Hanein et al.
HUMAN MUTATION (2004)
Regulatory modes of rod outer segment membrane guanylate cyclase differ in catalytic efficiency and Ca2+-sensitivity
JY Hwang et al.
EUROPEAN JOURNAL OF BIOCHEMISTRY (2003)
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
SG Jacobson et al.
HUMAN MOLECULAR GENETICS (2003)
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
AH Milam et al.
OPHTHALMOLOGY (2003)
Dynamics of cyclic GMP synthesis in retinal rods
ME Burns et al.
NEURON (2002)
Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa
JW Kijas et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors
A Mendez et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity
V Ramamurthy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man
AV Cideciyan et al.
VISUAL NEUROSCIENCE (2000)
Spectrum of retGC1 mutations in Leber's congenital amaurosis
I Perrault et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)