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

12 Feb 2018

Abstract excerpt

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 (GCAPs). To determine the mechanism by which this mutation leads to degeneration, we investigated the structure and...

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PMID: 29440533
DOI: 10.1523/jneurosci.2985-17.2018

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