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...

Бүрэн тодорхойлолт

-д хадгалсан:

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	англи
Хэвлэсэн:	2012
Онлайн хандалт:	https://doi.org/10.1093/hmg/dds421
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!

Ижил төстэй зүйлс

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
-н: Jacobson, Samuel G., зэрэг
Хэвлэсэн: (2013)

Evaluating the Role of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Domains in Binding Guanylyl Cyclase-activating Proteins (GCAPs)
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2015)

Binding of Guanylyl Cyclase Activating Protein 1 (GCAP1) to Retinal Guanylyl Cyclase (RetGC1): THE ROLE OF INDIVIDUAL EF-HANDS
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2008)

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

Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2011)

Enzymatic Properties and Regulation of the Native Isozymes of Retinal Membrane Guanylyl Cyclase (RetGC) from Mouse Photoreceptors
-н: Igor V. Peshenko, зэрэг
Хэвлэсэн: (2011)

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

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

Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
-н: Dizhoor, Alexander M., зэрэг
Хэвлэсэн: (2021)

Correction to: Regulation of retinal membrane guanylyl cyclase (RetGC) by negative calcium feedback and RD3 protein
-н: Dizhoor, Alexander M., зэрэг
Хэвлэсэн: (2021)

Spectrum of retGC1 mutations in Leber's congenital amaurosis
-н: Isabelle Perrault, зэрэг
Хэвлэсэн: (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
-н: Dizhoor, Alexander M., зэрэг
Хэвлэсэн: (2016)

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
-н: David Lowe, зэрэг
Хэвлэсэн: (1995)

Activation of Retinal Guanylyl Cyclase RetGC1 by GCAP1: Stoichiometry of Binding and the Effect of New LCA-Related Mutations
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2010)

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
-н: Lowe, D G, зэрэг
Хэвлэсэн: (1995)

Retinal Degeneration 3 (RD3) Protein Inhibits Catalytic Activity of Retinal Membrane Guanylyl Cyclase (RetGC) and Its Stimulation by Activating Proteins
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2011)

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
-н: Perrault, I, зэрэг
Хэвлэсэн: (1999)

Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis
-н: Isabelle Perrault, зэрэг
Хэвлэсэн: (1999)

Mg(2+)/Ca(2+) cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase
-н: Dizhoor, Alexander M., зэрэг
Хэвлэсэн: (2009)

Mg2+/Ca2+ cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase
-н: Alexander M. Dizhoor, зэрэг
Хэвлэсэн: (2009)

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase
-н: Tucker, Chandra L., зэрэг
Хэвлэсэн: (1998)

Two amino acid substitutions convert a guanylyl cyclase, RetGC-1, into an adenylyl cyclase
-н: Chandra L. Tucker, зэрэг
Хэвлэсэн: (1998)

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

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2021)

Retinal guanylyl cyclase activation by calcium sensor proteins mediates photoreceptor degeneration in an rd3 mouse model of congenital human blindness
-н: Dizhoor, Alexander M., зэрэг
Хэвлэсэн: (2019)

Interaction of GCAP1 with retinal guanylyl cyclase and calcium: sensitivity to fatty acylation
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2012)

Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by RPE65 Mutations
-н: Jacobson, Samuel G., зэрэг
Хэвлэсэн: (2008)

Activation and Inhibition of Photoreceptor Guanylyl Cyclase by Guanylyl Cyclase Activating Protein 1 (GCAP-1)
-н: Igor V. Peshenko, зэрэг
Хэвлэсэн: (2007)

Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas
-н: Boye, Sanford L., зэрэг
Хэвлэсэн: (2016)

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

Identification of Target Binding Site in Photoreceptor Guanylyl Cyclase-activating Protein 1 (GCAP1)
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2014)

Intervisit Variability of Visual Parameters in Leber Congenital Amaurosis Caused by RPE65 Mutations
-н: Roman, Alejandro J., зэрэг
Хэвлэсэн: (2013)

Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by<i>RPE65</i>Mutations
-н: Samuel G. Jacobson, зэрэг
Хэвлэсэн: (2008)

Dimerization of Guanylyl Cyclase-activating Protein and a Mechanism of Photoreceptor Guanylyl Cyclase Activation
-н: Elena V. Olshevskaya, зэрэг
Хэвлэсэн: (1999)

Retinal Guanylyl Cyclase Isozyme 1 Is the Preferential In Vivo Target for Constitutively Active GCAP1 Mutants Causing Congenital Degeneration of Photoreceptors
-н: Olshevskaya, Elena V., зэрэг
Хэвлэсэн: (2012)

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2021)

Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity
-н: Visvanathan Ramamurthy, зэрэг
Хэвлэсэн: (2001)

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

Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
-н: Jacobson, Samuel G., зэрэг
Хэвлэсэн: (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
-н: Peshenko, Igor V., зэрэг
Хэвлэсэн: (2007)