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Genetics June 2025

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

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Rola Ba-Abbad; Igor V. Peshenko; Malena Daich Varela; Siying Lin; Gavin Arno; Omar A. Mahroo; Catherine Egan; Anthony G. Robson; Elena V. Olshevskaya; Alexander M. Dizhoor; Andrew R. Webster
TAGS: alleles, night blindness, retinal cone, electroretinography, rod photoreceptors, phenotype, pathophysiology
Invest. Ophthalmol. Vis. Sci.. 2025; 66(6):22. https://doi.org/10.1167/iovs.66.6.22

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Dominant GUCA1A and GUCY2D photoreceptor degenerations can be decelerated in mouse models using transgenic expression of a recombinant non-photoreceptor phosphodiesterase.

Alexander M Dizhoor; Elena V Olshevskaya; Zhuokai Luo; Igor V Peshenko

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4272.

ARVO Annual Meeting Abstract June 2023

Two distinct functional parts in retinal degeneration-3 (RD3) protein structure define its ability to enable photoreceptors function and survival.

Alexander M Dizhoor; Elena Olshevskaya; Igor V Peshenko

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5084.

ARVO Annual Meeting Abstract June 2020

Study of surface-exposed residues in retinal degeneration 3 (RD3) protein in regulation of retinal guanylyl cyclase RetGC1 (GUCY2D)

Igor Peshenko; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4430.

ARVO Annual Meeting Abstract July 2019

Structure of a human Retinal Degeneration 3 (RD3) protein, a non-calcium sensor regulator of photoreceptor guanylyl cyclase.

Alexander M Dizhoor; Igor V Peshenko; Qinhong Yu; Sunghyuk Lim; Diana Cudia; James Ames

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3869.

ARVO Annual Meeting Abstract July 2018

A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 ( GUCA1A ) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

Igor V Peshenko; Artur V Cideciyan; Alexander Sumaroka; Elena V Olshevskaya; Alexander Scholten; Maximilian Flick; Karl-Wilhelm Koch; Samuel G Jacobson; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4488.

ARVO Annual Meeting Abstract July 2018

Suppression of GCAP-activated retinal guanylyl cyclase by RD3 protein is essential for preventing rd3 photoreceptor degeneration.

Alexander M Dizhoor; Elena V Olshevskaya; Igor V Peshenko

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4489.

ARVO Annual Meeting Abstract July 2018

Deregulation of calcium feedback via calcium sensor proteins, GCAPs, triggers photoreceptor death in dominant cone-rod dystrophy CORD6 mouse model.

Elena V Olshevskaya; Shinya Sato; Igor V Peshenko; Alexander M Dizhoor; Vladimir J Kefalov

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4490.

ARVO Annual Meeting Abstract June 2017

The lack of a direct effect of bicarbonate on photoreceptor guanylyl cyclase

Igor V Peshenko; Elena V Olshevskaya; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):602.

ARVO Annual Meeting Abstract June 2017

Regulation of phototransduction by GCAP1 and GCAP2 in mammalian cone photoreceptors

Vladimir J Kefalov; Frans Vinberg; Igor V Peshenko; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1028.

ARVO Annual Meeting Abstract September 2016

Transgenic expression of human photoreceptor guanylyl cyclase GUCY2D with LCA1 mutations: diversity of physiological effects and localization in photoreceptors.

Elena V Olshevskaya; Sanford L. Boye; Kevin Tyler McCullough; Igor V Peshenko; Shannon Elizabeth Boye; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3180.

ARVO Annual Meeting Abstract September 2016

Identification of possible target binding site in retinal degeneration 3 (RD3) protein

Igor V Peshenko; Elena V Olshevskaya; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3173.

ARVO Annual Meeting Abstract September 2016

Mutation in human retinal membrane guanylyl cyclase 1 (RetGC1, GUCY2D ) associated with CORD6 deregulates cGMP synthesis in photoreceptors and causes progressive blindness in transgenic mouse model.

Alexander M Dizhoor; Elena V Olshevskaya; Igor V Peshenko

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Point mutations in guanylyl cyclase RetGC1 dimerization domain disrupt binding of GCAP1 and GCAP2.

Igor V Peshenko; Elena V Olshevskaya; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4654.

ARVO Annual Meeting Abstract June 2015

Mutually exclusive binding of guanylyl cyclase activating proteins (GCAP) to retinal guanylyl cyclase 1 (RetGC1): implications for regulation of photoresponse and GUCY2D-linked Leber’s congenital amaurosis.

Alexander M Dizhoor; Elena V Olshevskaya; Igor V Peshenko

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4662.

ARVO Annual Meeting Abstract June 2015

Gene therapy restores useful vision to a model of the GUCY2D -LCA1 patient fovea, the all-cone Nrl -/- GC1 -/- mouse

Shannon Elizabeth Boye; james peterson; Shreyasi Choudhury; Seok-Hong Min; Qing Ruan; Kevin T. McCullough; Alexander M Dizhoor; William W Hauswirth; Xi-Qin Ding; Sanford L Boye

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2065.

ARVO Annual Meeting Abstract April 2014

The target enzyme-interfacing domain in photoreceptor guanylyl cyclase activating protein 1 (GCAP1)

Igor V Peshenko; Elena V Olshevskaya; Sunghyuk Lim; James Ames; Alexander M Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):416.

Biochemistry and Molecular Biology July 2012

Ceramide Kinase-Like (CERKL) Interacts with Neuronal Calcium Sensor Proteins in the Retina in a Cation-Dependent Manner

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Mariela J. Nevet; Sharon Vekslin; Alexander M. Dizhoor; Elena V. Olshevskaya; Rotem Tidhar; Anthony H. Futerman; Tamar Ben-Yosef
TAGS: calcium, cations, ceramides, phosphotransferases, proteins, retina, sensor
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4565-4574. https://doi.org/10.1167/iovs.12-9770

ARVO Annual Meeting Abstract March 2012

Establishing A Course For AAV-mediated Gene Therapy For Leber Congenital Amaurosis-1 (LCA1)

Shannon E. Boye; Sanford L. Boye; Issam McDoom; Wei Chieh Huang; Sukanya Karan; Igor V. Peshenko; Alexander M. Dizhoor; Wolfgang Baehr; Samuel G. Jacobson; William W. Hauswirth

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1934.

ARVO Annual Meeting Abstract March 2012

The N-fatty Acyl Group In A Bovine Guanylyl Cyclase Activating Protein-1 Provides Intramolecular Tuning Of Its Calcium Sensitivity And Interaction With The Effector Enzyme

Igor V. Peshenko; Elena V. Olshevskaya; Sunghyuk Lim; James B. Ames; Alexander M. Dizhoor

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5583.

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Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

Dominant GUCA1A and GUCY2D photoreceptor degenerations can be decelerated in mouse models using transgenic expression of a recombinant non-photoreceptor phosphodiesterase.

Two distinct functional parts in retinal degeneration-3 (RD3) protein structure define its ability to enable photoreceptors function and survival.

Study of surface-exposed residues in retinal degeneration 3 (RD3) protein in regulation of retinal guanylyl cyclase RetGC1 (GUCY2D)

Structure of a human Retinal Degeneration 3 (RD3) protein, a non-calcium sensor regulator of photoreceptor guanylyl cyclase.

A novel mutation, Gly86Arg, in a calcium-sensor protein GCAP1 ( GUCA1A ) alters regulation of the retinal guanylyl cyclase and causes dominant cone-rod degeneration

Suppression of GCAP-activated retinal guanylyl cyclase by RD3 protein is essential for preventing rd3 photoreceptor degeneration.

Deregulation of calcium feedback via calcium sensor proteins, GCAPs, triggers photoreceptor death in dominant cone-rod dystrophy CORD6 mouse model.

The lack of a direct effect of bicarbonate on photoreceptor guanylyl cyclase

Regulation of phototransduction by GCAP1 and GCAP2 in mammalian cone photoreceptors

Transgenic expression of human photoreceptor guanylyl cyclase GUCY2D with LCA1 mutations: diversity of physiological effects and localization in photoreceptors.

Identification of possible target binding site in retinal degeneration 3 (RD3) protein

Mutation in human retinal membrane guanylyl cyclase 1 (RetGC1, GUCY2D ) associated with CORD6 deregulates cGMP synthesis in photoreceptors and causes progressive blindness in transgenic mouse model.

Point mutations in guanylyl cyclase RetGC1 dimerization domain disrupt binding of GCAP1 and GCAP2.

Mutually exclusive binding of guanylyl cyclase activating proteins (GCAP) to retinal guanylyl cyclase 1 (RetGC1): implications for regulation of photoresponse and GUCY2D-linked Leber’s congenital amaurosis.

Gene therapy restores useful vision to a model of the GUCY2D -LCA1 patient fovea, the all-cone Nrl -/- GC1 -/- mouse

The target enzyme-interfacing domain in photoreceptor guanylyl cyclase activating protein 1 (GCAP1)

Ceramide Kinase-Like (CERKL) Interacts with Neuronal Calcium Sensor Proteins in the Retina in a Cation-Dependent Manner

Establishing A Course For AAV-mediated Gene Therapy For Leber Congenital Amaurosis-1 (LCA1)

The N-fatty Acyl Group In A Bovine Guanylyl Cyclase Activating Protein-1 Provides Intramolecular Tuning Of Its Calcium Sensitivity And Interaction With The Effector Enzyme

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