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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	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
Μορφή:	Artigo
Γλώσσα:	Αγγλικά
Έκδοση:	2012
Διαθέσιμο Online:	https://doi.org/10.1093/hmg/dds421
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια

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
από: Jacobson, Samuel G., κ.ά.
Έκδοση: (2013)

Evaluating the Role of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Domains in Binding Guanylyl Cyclase-activating Proteins (GCAPs)
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2015)

Binding of Guanylyl Cyclase Activating Protein 1 (GCAP1) to Retinal Guanylyl Cyclase (RetGC1): THE ROLE OF INDIVIDUAL EF-HANDS
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2008)

Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2015)

Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2011)

Enzymatic Properties and Regulation of the Native Isozymes of Retinal Membrane Guanylyl Cyclase (RetGC) from Mouse Photoreceptors
από: Igor V. Peshenko, κ.ά.
Έκδοση: (2011)

AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis
από: Boye, Sanford L., κ.ά.
Έκδοση: (2013)

AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis
από: Sanford L. Boye, κ.ά.
Έκδοση: (2012)

Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
από: Dizhoor, Alexander M., κ.ά.
Έκδοση: (2021)

Correction to: Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
από: Dizhoor, Alexander M., κ.ά.
Έκδοση: (2021)

Spectrum of retGC1 mutations in Leber's congenital amaurosis
από: Isabelle Perrault, κ.ά.
Έκδοση: (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
από: Dizhoor, Alexander M., κ.ά.
Έκδοση: (2016)

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
από: David Lowe, κ.ά.
Έκδοση: (1995)

Activation of Retinal Guanylyl Cyclase RetGC1 by GCAP1: Stoichiometry of Binding and the Effect of New LCA-Related Mutations
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2010)

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
από: Lowe, D G, κ.ά.
Έκδοση: (1995)

Retinal Degeneration 3 (RD3) Protein Inhibits Catalytic Activity of Retinal Membrane Guanylyl Cyclase (RetGC) and Its Stimulation by Activating Proteins
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2011)

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
από: Perrault, I, κ.ά.
Έκδοση: (1999)

Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
από: Isabelle Perrault, κ.ά.
Έκδοση: (1999)

Mg(2+)/Ca(2+) cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase
από: Dizhoor, Alexander M., κ.ά.
Έκδοση: (2009)

Mg2+/Ca2+ cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase
από: Alexander M. Dizhoor, κ.ά.
Έκδοση: (2009)

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase
από: Tucker, Chandra L., κ.ά.
Έκδοση: (1998)

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase
από: Chandra L. Tucker, κ.ά.
Έκδοση: (1998)

Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling
από: Dizhoor, Alexander M., κ.ά.
Έκδοση: (2021)

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2021)

Retinal guanylyl cyclase activation by calcium sensor proteins mediates photoreceptor degeneration in an rd3 mouse model of congenital human blindness
από: Dizhoor, Alexander M., κ.ά.
Έκδοση: (2019)

Interaction of GCAP1 with retinal guanylyl cyclase and calcium: sensitivity to fatty acylation
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2012)

Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by RPE65 Mutations
από: Jacobson, Samuel G., κ.ά.
Έκδοση: (2008)

Activation and Inhibition of Photoreceptor Guanylyl Cyclase by Guanylyl Cyclase Activating Protein 1 (GCAP-1)
από: Igor V. Peshenko, κ.ά.
Έκδοση: (2007)

Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas
από: Boye, Sanford L., κ.ά.
Έκδοση: (2016)

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2019)

Identification of Target Binding Site in Photoreceptor Guanylyl Cyclase-activating Protein 1 (GCAP1)
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2014)

Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused by RPE65 Mutations
από: Roman, Alejandro J., κ.ά.
Έκδοση: (2013)

Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by<i>RPE65</i>Mutations
από: Samuel G. Jacobson, κ.ά.
Έκδοση: (2008)

Dimerization of Guanylyl Cyclase-activating Protein and a Mechanism of Photoreceptor Guanylyl Cyclase Activation
από: Elena V. Olshevskaya, κ.ά.
Έκδοση: (1999)

Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential In Vivo Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors
από: Olshevskaya, Elena V., κ.ά.
Έκδοση: (2012)

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2021)

Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity
από: Visvanathan Ramamurthy, κ.ά.
Έκδοση: (2001)

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

Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
από: Jacobson, Samuel G., κ.ά.
Έκδοση: (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
από: Peshenko, Igor V., κ.ά.
Έκδοση: (2007)