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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Xehetasun bibliografikoak
Egile Nagusiak:	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
Formatua:	Artigo
Hizkuntza:	ingelesa
Argitaratua:	2012
Sarrera elektronikoa:	https://doi.org/10.1093/hmg/dds421
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak

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
nork: Jacobson, Samuel G., et al.
Argitaratua: (2013)

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

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

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

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

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

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

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

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

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

Spectrum of retGC1 mutations in Leber's congenital amaurosis
nork: Isabelle Perrault, et al.
Argitaratua: (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
nork: Dizhoor, Alexander M., et al.
Argitaratua: (2016)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
nork: Jacobson, Samuel G., et al.
Argitaratua: (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
nork: Peshenko, Igor V., et al.
Argitaratua: (2007)