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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Bibliografski detalji
Izdano u:J Biol Chem
Glavni autori: Peshenko, Igor V., Cideciyan, Artur V., Sumaroka, Alexander, Olshevskaya, Elena V., Scholten, Alexander, Abbas, Seher, Koch, Karl-Wilhelm, Jacobson, Samuel G., Dizhoor, Alexander M.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2019
Teme:
Signal Transduction
Online pristup: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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