Maximilian J Gerhardt, Simon M Petersen-Jones, Stylianos Michalakis
Vision research 2023 JulThe genes CNGA1 and CNGB1 encode the alpha and beta subunits of the rod CNG channel, a ligand-gated cation channel whose activity is controlled by cyclic guanosine monophosphate (cGMP). Autosomal inherited mutations in either of the genes lead to a progressive rod-cone retinopathy known as retinitis pigmentosa (RP). The rod CNG channel is expressed in the plasma membrane of the outer segment and functions as a molecular switch that converts light-mediated changes in cGMP into a voltage and Ca2+ signal. Here, we will first review the molecular properties and physiological role of the rod CNG channel and then discuss the characteristics of CNG-related RP. Finally, we will summarize recent activities in the field of gene therapy aimed at developing therapies for CNG-related RP. Copyright © 2023 Elsevier Ltd. All rights reserved.
Maximilian J Gerhardt, Simon M Petersen-Jones, Stylianos Michalakis. CNG channel-related retinitis pigmentosa. Vision research. 2023 Jul;208:108232
PMID: 37054604
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