G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)

01/01/2007 - "The objective of this study was to describe the ophthalmic features and a novel mutation in the GRK1 (rhodopsin kinase) gene in 2 Japanese patients with Oguchi disease. "
01/01/2021 - "Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). "
02/01/1997 - "Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness."
11/01/2004 - "We examined the arrestin gene and the rhodopsin kinase gene in 5 unrelated patients with Oguchi disease, and found arrestin gene mutations in 4 of them and a rhodopsin kinase gene mutation in the fifth patient. "
02/01/1997 - "This report describes an analysis of the arrestin and rhodopsin kinase genes in three unrelated cases of Oguchi disease. "

08/01/2003 - "We have found that significantly low levels of expression of rhodopsin kinase (RK) and alphaA-crystallin may be involved in the pathogenesis of retinal degeneration in the RCS rat (Invest Ophthalmol Vis Sci. 1999,40:2788-2794). "
11/06/2001 - "To examine the molecular processes that lead to light-induced retinal degeneration, mutant mice deficient in arrestin and rhodopsin kinase were raised in the dark and then subjected to relatively low doses of white light. "
08/01/2003 - "In the present study, we examined the expression of photoreceptor specific proteins in the pineal gland (PG) including rhodopsin kinase (RK), arrestin and recoverin, which are known to be commonly present in both photoreceptor and PG, in order to elucidate the pathological relationship between retina and PG during retinal degeneration. "

02/01/1997 - "Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness."
11/01/2013 - "The effects of activating mutations associated with night blindness on the stoichiometry of rhodopsin interactions with G protein-coupled receptor kinase 1 (GRK1) and arrestin-1 have not been reported. "
11/01/1999 - "Human patients with naturally occurring mutations that lead to nonfunctional arrestin and rhodopsin kinase have Oguchi disease, a form of stationary night blindness. "
01/01/1998 - "The stationary night blindness of Oguchi disease, associated with null mutations in the genes for arrestin or rhodopsin kinase, presumably results from impaired rhodopsin deactivation, like that revealed by the experiments on transgenic animals."
11/01/2000 - "Review of the visual acuities, visual fields, fundi, dark-adaptation curves, and electroretinograms from patients with stationary night blindness caused by mutations in the genes RHO, GNAT1, PDE6B, RHOK, SAG, RDH5, and CACNA1F, respectively encoding rhodopsin, the alpha subunit of rod transducin, the beta subunit of rod cGMP-phosphodiesterase, rhodopsin kinase, arrestin, 11-cis retinol dehydrogenase, and a retinal L-type calcium channel. "

12/30/2014 - "Germline deletion of the Pde6d gene encoding PDEδ impeded transport of rhodopsin kinase (GRK1) and PDE6 to outer segments, causing slowly progressing, recessive retinitis pigmentosa. "
08/01/1997 - "We explored the possibility that defects in the rhodopsin kinase gene might cause retinitis pigmentosa (RP) by evaluating 160 unrelated cases with dominant RP and 151 unrelated cases with recessive RP. "
08/01/1997 - "Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa."
12/04/1998 - "Immobilized PDEdelta and CEdelta both bind, in addition to bovine PDE, an N-terminal fragment of human retinitis pigmentosa GTPase regulator, but not rhodopsin kinase and Ran binding protein 1. The results suggest that PDEdelta and CEdelta may regulate membrane binding of a variety of proteins in photoreceptors and other tissues."
08/01/1996 - "Furthermore, autosmal retinitis pigmentosa (RP) with rhodopsin mutation at 296 Lys, which in the binding site of 11-cis-retinal, showed constitutive activation of guanosine 5'-triphosphate (GTP) binding protein and no rhodopsin phosphorylation by rhodopsin kinase. "

01/01/2021 - "Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). "
02/01/1997 - "Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness."
01/01/2023 - "Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness caused by disease-causing variants in the rhodopsin kinase gene (GRK1) or the arrestin gene (SAG). "