Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.
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A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)The linker region in receptor guanylyl cyclases is a key regulatory module: mutational analysis of guanylyl cyclase CDiversity in domain architectures of Ser/Thr kinases and their homologues in prokaryotesFunctional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunitCyaG, a novel cyanobacterial adenylyl cyclase and a possible ancestor of mammalian guanylyl cyclases.Increased light exposure alleviates one form of photoreceptor degeneration marked by elevated calcium in the darkActivation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutationsNovel functions of photoreceptor guanylate cyclases revealed by targeted deletionMembrane guanylate cyclase, a multimodal transduction machine: history, present, and future directionsCa(2+)-binding proteins in the retina: structure, function, and the etiology of human visual diseases.Characterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man.Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments.Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs)Targeting of mouse guanylate cyclase 1 (Gucy2e) to Xenopus laevis rod outer segments.Ca(2+)-sensors and ROS-GC: interlocked sensory transduction elements: a review.Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsDisease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.Signal transducing membrane complexes of photoreceptor outer segments.Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein.Molecular Physiology of Membrane Guanylyl Cyclase Receptors.Ca2+ and Mg2+ binding properties of GCAP-1. Evidence that Mg2+-bound form is the physiological activator of photoreceptor guanylyl cyclase.Regulatory modes of rod outer segment membrane guanylate cyclase differ in catalytic efficiency and Ca(2+)-sensitivity.Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1.A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice.Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity.A critical role for ATP in the stimulation of retinal guanylyl cyclase by guanylyl cyclase-activating proteins.Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.GUCY2D Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.Evolution of the calcium feedback steps of vertebrate phototransduction
P2860
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P2860
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Biochemical analysis of a dime ...... h dominant cone-rod dystrophy.
@ast
Biochemical analysis of a dime ...... h dominant cone-rod dystrophy.
@en
type
label
Biochemical analysis of a dime ...... h dominant cone-rod dystrophy.
@ast
Biochemical analysis of a dime ...... h dominant cone-rod dystrophy.
@en
prefLabel
Biochemical analysis of a dime ...... h dominant cone-rod dystrophy.
@ast
Biochemical analysis of a dime ...... h dominant cone-rod dystrophy.
@en
P2093
P2860
P356
P1476
Biochemical analysis of a dime ...... th dominant cone-rod dystrophy
@en
P2093
J B Hurley
R E Kelsell
S C Woodcock
V Ramamurthy
P2860
P304
P356
10.1073/PNAS.96.16.9039
P407
P577
1999-08-01T00:00:00Z