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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