GUCY2D Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. (Q50026113)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440533%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

title

GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1 (English)

1 reference

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16 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440533%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440533%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

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16 March 2020

Igor V Peshenko

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16 March 2020

Elena V Olshevskaya

series ordinal

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16 March 2020

language of work or name

English

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publication date

12 February 2018

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16 March 2020

published in

Journal of Neuroscience

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16 March 2020

volume

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16 March 2020

issue

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16 March 2020

page(s)

2990-3000

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Two pathways of rod photoreceptor cell death induced by elevated cGMP.

16 March 2020

cites work

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Mitochondria Maintain Distinct Ca2+ Pools in Cone Photoreceptors.

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The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice

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Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein

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Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1.

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Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface

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Chromophore supply rate-limits mammalian photoreceptor dark adaptation.

26 August 2018

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cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function

26 August 2018

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AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.

26 August 2018

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Enzymatic relay mechanism stimulates cyclic GMP synthesis in rod photoresponse: biochemical and physiological study in guanylyl cyclase activating protein 1 knockout mice

26 August 2018

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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

26 August 2018

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Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors

26 August 2018

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Photoreceptor signaling: supporting vision across a wide range of light intensities

26 August 2018

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Enzymatic Properties and Regulation of the Native Isozymes of Retinal Membrane Guanylyl Cyclase (RetGC) from Mouse Photoreceptors

26 August 2018

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Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

26 August 2018

1 reference

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Mg2+/Ca2+ cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase

26 August 2018

1 reference

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Guanylate cyclases and associated activator proteins in retinal disease

26 August 2018

1 reference

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Phototransduction motifs and variations

26 August 2018

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PKG activity causes photoreceptor cell death in two retinitis pigmentosa models

26 August 2018

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A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

26 August 2018

1 reference

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Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

RGS expression rate-limits recovery of rod photoresponses

26 August 2018

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Ca2+ and Mg2+ binding properties of GCAP-1. Evidence that Mg2+-bound form is the physiological activator of photoreceptor guanylyl cyclase

26 August 2018

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Distribution of cGMP-dependent protein kinase type I and its isoforms in the mouse brain and retina

26 August 2018

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26 August 2018

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Diversity of guanylate cyclase-activating proteins (GCAPs) in teleost fish: characterization of three novel GCAPs (GCAP4, GCAP5, GCAP7) from zebrafish (Danio rerio) and prediction of eight GCAPs (GCAP1-8) in pufferfish (Fugu rubripes).

26 August 2018

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The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice.

26 August 2018

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Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients

26 August 2018

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Guanylyl cyclase-activating proteins (GCAPs) are Ca2+/Mg2+ sensors: implications for photoreceptor guanylyl cyclase (RetGC) regulation in mammalian photoreceptors

26 August 2018

1 reference

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Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Dynamics of cyclic GMP synthesis in retinal rods

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Measurement of cytoplasmic calcium concentration in the rods of wild-type and transducin knock-out mice

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors

26 August 2018

1 reference

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Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Spectrum of retGC1 mutations in Leber's congenital amaurosis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Localization of cGMP-dependent protein kinase isoforms in mouse eye.

26 August 2018

1 reference

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Molecular mechanisms of vertebrate photoreceptor light adaptation

26 August 2018

1 reference

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Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior.

26 August 2018

1 reference

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GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy

26 August 2018

1 reference

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Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Two membrane forms of guanylyl cyclase found in the eye

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Cloning, sequencing, and expression of a 24-kDa Ca(2+)-binding protein activating photoreceptor guanylyl cyclase.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Molecular cloning and characterization of retinal photoreceptor guanylyl cyclase-activating protein

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Highly cooperative feedback control of retinal rod guanylate cyclase by calcium ions.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Primary structure and functional expression of the Na/Ca,K-exchanger from bovine rod photoreceptors

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5864148

Electrogenic Na–Ca exchange in retinal rod outer segment

26 August 2018

1 reference

12 December 2020

The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator

1 reference

12 December 2020

The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain

1 reference

12 December 2020

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

1 reference

12 December 2020

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

1 reference

12 December 2020

The Na+/Ca2+ exchanger NCX1 has oppositely oriented reentrant loop domains that contain conserved aspartic acids whose mutation alters its apparent Ca2+ affinity

1 reference

12 December 2020

10.1523/JNEUROSCI.2985-17.2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440533%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440533%20AND%20SRC:MED&resulttype=core&format=json

16 March 2020

PubMed publication ID

29440533

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440533%20AND%20SRC:MED&resulttype=core&format=json