ReviewAdvances in experimental medicine and biology2010
GCAP1 mutations associated with autosomal dominant cone dystrophy.
Review in Advances in experimental medicine and biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.Nature communications · 2023Article
- Chemical shift assignments of retinal guanylyl cyclase activating protein 5 (GCAP5) with a mutation (R22A) that abolishes dimerization and enhances cyclase activation.Biomolecular NMR assignments · 2023Article
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Evolution of visual guanylyl cyclases and their activating proteins with respect to clade and species-specific visual system adaptation.Frontiers in molecular neuroscience · 2023Article
- Structural basis of retinal membrane guanylate cyclase regulation by GCAP1 and RD3.Frontiers in molecular neuroscience · 2022Review
- Structural Insights into Retinal Guanylate Cyclase Activator Proteins (GCAPs).International journal of molecular sciences · 2021Review
- The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.Human molecular genetics · 2020Article
- Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.Scientific reports · 2019Article
- Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.Scientific reports · 2019Article
- Functional characterization of a novelMolecular vision · 2019Article
- Dimerization of Neuronal Calcium Sensor Proteins.Frontiers in molecular neuroscience · 2018Review
- Article
- Structural Characterization of Ferrous Ion Binding to Retinal Guanylate Cyclase Activator Protein 5 from Zebrafish Photoreceptors.Biochemistry · 2017Article
- Graft versus self (GvS) against T-cell autoantigens is a mechanism of graft-host interaction.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Endogenous calcium buffering at photoreceptor synaptic terminals in salamander retina.Synapse (New York, N.Y.) · 2014Article
- Adaptive potentiation in rod photoreceptors after light exposure.The Journal of general physiology · 2014Article
- Two structural motifs within canonical EF-hand calcium-binding domains identify five different classes of calcium buffers and sensors.PloS one · 2014Article
- Structural diversity of neuronal calcium sensor proteins and insights for activation of retinal guanylyl cyclase by GCAP1.Frontiers in molecular neuroscience · 2014Review
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
We discuss the heterogeneity of autosomal dominant cone and cone-rod dystrophies (adCD, and adCORD, respectively). As one of the best characterized adCD genes, we focus on the GUCA1A gene encoding guanylate cyclase activating protein 1 (GCAP1), a protein carrying three high affinity Ca(2+) binding motifs (EF hands). GCAP1 senses changes in cytoplasmic free [Ca(2+)] and communicates these changes to GC1, by either inhibiting it (at high free [Ca(2+)]), or stimulating it (at low free [Ca(2+)]). A number of missense mutations altering the structure and Ca(2+) affinity of EF hands have been discovered. These mutations are associated with a gain of function, producing dominant cone and cone rod dystrophy phenotypes. In this article we review these mutations and describe the consequences of specific mutations on GCAP1 structure and GC stimulation.We discuss the heterogeneity of autosomal dominant cone and cone-rod dystrophies (adCD, and adCORD, respectively). As one of the best characterized adCD genes, we focus on the GUCA1A gene encoding guanylate cyclase activating protein 1 (GCAP1), a protein carrying three high affinity Ca(2+) binding motifs (EF hands). GCAP1 senses changes in cytoplasmic free [Ca(2+)] and communicates these changes to GC1, by either inhibiting it (at high free [Ca(2+)]), or stimulating it (at low free [Ca(2+)]). A number of missense mutations altering the structure and Ca(2+) affinity of EF hands have been discovered. These mutations are associated with a gain of function, producing dominant cone and cone rod dystrophy phenotypes. In this article we review these mutations and describe the consequences of specific mutations on GCAP1 structure and GC stimulation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.