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

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

The GUCY2D gene encodes retinal membrane guanylyl cyclase (RetGC1), a key component of the phototransduction machinery in photoreceptors. Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human retinal blinding disease. The effects of RetGC1 deficiency on hum...

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Bibliografiske detaljer
Main Authors:	Samuel G. Jacobson, Artur V. Cideciyan, Igor V. Peshenko, Alexander Sumaroka, Elena V. Olshevskaya, Li-Hui Cao, Sharon Schwartz, Alejandro J. Román, Melani B. Olivares, Sam Sadigh, King‐Wai Yau, Elise Héon, Edwin M. Stone, Alexander M. Dizhoor
Format:	Artigo
Sprog:	engelsk
Udgivet:	2012
Online adgang:	https://doi.org/10.1093/hmg/dds421
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Lignende værker

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
af: Jacobson, Samuel G., et al.
Udgivet: (2013)

Evaluating the Role of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Domains in Binding Guanylyl Cyclase-activating Proteins (GCAPs)
af: Peshenko, Igor V., et al.
Udgivet: (2015)

Binding of Guanylyl Cyclase Activating Protein 1 (GCAP1) to Retinal Guanylyl Cyclase (RetGC1): THE ROLE OF INDIVIDUAL EF-HANDS
af: Peshenko, Igor V., et al.
Udgivet: (2008)

Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface
af: Peshenko, Igor V., et al.
Udgivet: (2015)

Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors
af: Peshenko, Igor V., et al.
Udgivet: (2011)

Enzymatic Properties and Regulation of the Native Isozymes of Retinal Membrane Guanylyl Cyclase (RetGC) from Mouse Photoreceptors
af: Igor V. Peshenko, et al.
Udgivet: (2011)

AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis
af: Boye, Sanford L., et al.
Udgivet: (2013)

AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis
af: Sanford L. Boye, et al.
Udgivet: (2012)

Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
af: Dizhoor, Alexander M., et al.
Udgivet: (2021)

Correction to: Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
af: Dizhoor, Alexander M., et al.
Udgivet: (2021)

Spectrum of retGC1 mutations in Leber's congenital amaurosis
af: Isabelle Perrault, et al.
Udgivet: (2000)

The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice
af: Dizhoor, Alexander M., et al.
Udgivet: (2016)

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
af: David Lowe, et al.
Udgivet: (1995)

Activation of Retinal Guanylyl Cyclase RetGC1 by GCAP1: Stoichiometry of Binding and the Effect of New LCA-Related Mutations
af: Peshenko, Igor V., et al.
Udgivet: (2010)

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
af: Lowe, D G, et al.
Udgivet: (1995)

Retinal Degeneration 3 (RD3) Protein Inhibits Catalytic Activity of Retinal Membrane Guanylyl Cyclase (RetGC) and Its Stimulation by Activating Proteins
af: Peshenko, Igor V., et al.
Udgivet: (2011)

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
af: Perrault, I, et al.
Udgivet: (1999)

Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
af: Isabelle Perrault, et al.
Udgivet: (1999)

Mg(2+)/Ca(2+) cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase
af: Dizhoor, Alexander M., et al.
Udgivet: (2009)

Mg2+/Ca2+ cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase
af: Alexander M. Dizhoor, et al.
Udgivet: (2009)

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase
af: Tucker, Chandra L., et al.
Udgivet: (1998)

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase
af: Chandra L. Tucker, et al.
Udgivet: (1998)

Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling
af: Dizhoor, Alexander M., et al.
Udgivet: (2021)

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase
af: Peshenko, Igor V., et al.
Udgivet: (2021)

Retinal guanylyl cyclase activation by calcium sensor proteins mediates photoreceptor degeneration in an rd3 mouse model of congenital human blindness
af: Dizhoor, Alexander M., et al.
Udgivet: (2019)

Interaction of GCAP1 with retinal guanylyl cyclase and calcium: sensitivity to fatty acylation
af: Peshenko, Igor V., et al.
Udgivet: (2012)

Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by RPE65 Mutations
af: Jacobson, Samuel G., et al.
Udgivet: (2008)

Activation and Inhibition of Photoreceptor Guanylyl Cyclase by Guanylyl Cyclase Activating Protein 1 (GCAP-1)
af: Igor V. Peshenko, et al.
Udgivet: (2007)

Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas
af: Boye, Sanford L., et al.
Udgivet: (2016)

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration
af: Peshenko, Igor V., et al.
Udgivet: (2019)

Identification of Target Binding Site in Photoreceptor Guanylyl Cyclase-activating Protein 1 (GCAP1)
af: Peshenko, Igor V., et al.
Udgivet: (2014)

Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused by RPE65 Mutations
af: Roman, Alejandro J., et al.
Udgivet: (2013)

Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by<i>RPE65</i>Mutations
af: Samuel G. Jacobson, et al.
Udgivet: (2008)

Dimerization of Guanylyl Cyclase-activating Protein and a Mechanism of Photoreceptor Guanylyl Cyclase Activation
af: Elena V. Olshevskaya, et al.
Udgivet: (1999)

Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential In Vivo Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors
af: Olshevskaya, Elena V., et al.
Udgivet: (2012)

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness
af: Peshenko, Igor V., et al.
Udgivet: (2021)

Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity
af: Visvanathan Ramamurthy, et al.
Udgivet: (2001)

Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential<i>In Vivo</i>Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors
af: Elena V. Olshevskaya, et al.
Udgivet: (2012)

Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
af: Jacobson, Samuel G., et al.
Udgivet: (2008)

Activation and Inhibition of Photoreceptor Guanylyl Cyclase by Guanylyl Cyclase Activating Protein 1 (GCAP-1). The Functional Role of Mg(2+)/Ca(2+) Exchange in EF-Hand Domains
af: Peshenko, Igor V., et al.
Udgivet: (2007)