GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1

The Arg838Ser mutation in retinal membrane guanylyl cyclase 1 (RetGC1) has been linked to autosomal dominant cone–rod dystrophy type 6 (CORD6). It is believed that photoreceptor degeneration is caused by the altered sensitivity of RetGC1 to calcium regulation via guanylyl cyclase activating proteins...

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Vydáno v:J Neurosci
Hlavní autoři: Sato, Shinya, Peshenko, Igor V., Olshevskaya, Elena V., Kefalov, Vladimir J., Dizhoor, Alexander M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Society for Neuroscience 2018
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Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5864148/
https://ncbi.nlm.nih.gov/pubmed/29440533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2985-17.2018
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