Guanylate cyclases and associated activator proteins in retinal disease (original) (raw)

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration

Karl-wilhelm Koch

Journal of Biological Chemistry, 2019

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Retinal diseases linked with photoreceptor guanylate cyclase

Karl-wilhelm Koch

Molecular and cellular biochemistry, 2002

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Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations

Karl-wilhelm Koch

Frontiers in Molecular Neuroscience, 2014

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Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

Keren Yosovich

Frontiers in Molecular Neuroscience

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Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

David Bessant, Annette Payne

Journal of medical genetics, 1999

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Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies: Table 1

Alan Bird

Journal of Medical Genetics

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Two retinal dystrophy-associated missense mutations inGUCA1Awith distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase

Karl-wilhelm Koch

Human Molecular Genetics, 2015

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Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1

Robert Molday

The Journal of biological chemistry, 2015

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Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase

Karl-wilhelm Koch

Human Molecular Genetics, 2015

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Localization of guanylate cyclase-activating protein 2 in mammalian retinas

Francoise Haeseleer

Proceedings of the National Academy of Sciences, 1997

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Retinal Guanylyl Cyclase-Activating Protein 1 and 2

James Ames

Encyclopedia of Signaling Molecules, 2016

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Autosomal dominant cone–rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase11The authors have no proprietary interests in the materials mentioned in the study

Cheryl Gregory-evans

Ophthalmology, 2000

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Gene Array and Expression of Mouse Retina Guanylate Cyclase Activating Proteins 1 and 2

Claudia Ruiz

1998

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Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

John Heckenlively

Human Mutation, 2009

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Mutation in the Gene GUCA1A, Encoding Guanylate Cyclase-Activating Protein 1, Causes Cone, Cone-Rod, and Macular Dystrophy

Michel Michaelides, David Hunt

Ophthalmology, 2005

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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

Artur Cideciyan

Human Molecular Genetics, 2013

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RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

Seifollah Azadi, Robert Molday

2010

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Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase1* 1

Cheryl Gregory-evans, Kevin Gregory-Evans, David Hunt

Ophthalmology, 2000

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Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1

Graham Holder, Susan Downes

Archives of Ophthalmology, 2001

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The Y99C Mutation in Guanylyl Cyclase-Activating Protein 1 Increases Intracellular Ca2+ and Causes Photoreceptor Degeneration in Transgenic Mice

Mhz Santae Gordon

Journal of Neuroscience, 2004

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The localization of guanylyl cyclase-activating proteins in the mammalian retina

Nicolás Cuenca, Helga Kolb

1998

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Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

Cheryl Gregory-evans, Kevin Gregory-Evans, Cheryl Gregory-Evans, David Hunt

Ophthalmology, 2000

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Guanylate-cyclase-inhibitory protein is a frog retinal Ca2+-binding protein related to mammalian guanylate-cyclase-activating proteins

Ning Qin

European Journal of Biochemistry, 1998

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Structural Insights into Retinal Guanylate Cyclase Activator Proteins (GCAPs)

James Ames

International Journal of Molecular Sciences, 2021

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Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy

David Hunt

Human Molecular Genetics, 2000

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The Localization of Guanylyl Cylase—Activating Proteins in the Mammalian Retina

Salvador lopez

1997

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Guanylate cyclase activating proteins, guanylate cyclase and disease

Annette Payne

Advances in experimental medicine and biology, 2002

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