ReviewFrontiers in molecular neuroscience2014
Insights gained from gene therapy in animal models of retGC1 deficiency.
Review in Frontiers in molecular neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 14 citations in OpenAlex.
- Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- AAmerican journal of ophthalmology case reports · 2024Article
- Article
- Leber Congenital Amaurosis Due toInternational journal of molecular sciences · 2021Article
- Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision.Investigative ophthalmology & visual science · 2019Article
- Photoreceptor Guanylate Cyclase (Frontiers in molecular neuroscience · 2018Article
- Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.Investigative ophthalmology & visual science · 2017Article
- Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.BMC medical genetics · 2016Article
- Functional study of two biochemically unusual mutations inMolecular vision · 2016Article
- Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking.eLife · 2015Article
- It's never too late to save a photoreceptor.The Journal of clinical investigation · 2015Article
- Ca(2+) and Ca(2+)-interlocked membrane guanylate cyclase signal modulation of neuronal and cardiovascular signal transduction.Frontiers in molecular neuroscience · 2015Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vertebrate species possess two retinal guanylate cyclases (retGC1 and retGC2) and at least two guanylate cyclase activating proteins (GCAPs), GCAP1 and GCAP2. GCAPs function as Ca(2+) sensors that regulate the activity of guanylate cyclases. Together, these proteins regulate cGMP and Ca(2+) levels within the outer segments of rod and cone photoreceptors. Mutations in GUCY2D, the gene that encodes retGC1, are a leading cause of the most severe form of early onset retinal dystrophy, Leber congenital amaurosis (LCA1). These mutations, which reduce or abolish the ability of retGC1 to replenish cGMP in photoreceptors, are thought to lead to the biochemical equivalent of chronic light exposure in these cells. In spite of this, the majority of LCA1 patients retain normal photoreceptor laminar architecture aside from foveal cone outer segment abnormalities, suggesting they may be good candidates for gene replacement therapy. Work began in the 1980s to characterize multiple animal models of retGC1 deficiency. 34 years later, all models have been used in proof of concept gene replacement studies toward the goal of developing a therapy to treat GUCY2D-LCA1. Here we use the results of these studies as well as those of recent clinical studies to address specific questions relating to clinical application of a gene therapy for treatment of LCA1.
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