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A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration
The guanylyl cyclase-activating protein, GCAP1, activates photoreceptor membrane guanylyl cyclase (RetGC) in the light, when free Ca(2+) concentrations decline, and decelerates the cyclase in the dark, when Ca(2+) concentrations rise. Here, we report a novel mutation, G86R, in the GCAP1 (GUCA1A) gen...
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| Gepubliceerd in: | J Biol Chem |
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| Hoofdauteurs: | , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
American Society for Biochemistry and Molecular Biology
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6416442/ https://ncbi.nlm.nih.gov/pubmed/30622141 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.006180 |
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