Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration
about
Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamilyIdentification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degenerationThree-dimensional structure of guanylyl cyclase activating protein-2, a calcium-sensitive modulator of photoreceptor guanylyl cyclasesStabilizing Function for Myristoyl Group Revealed by the Crystal Structure of a Neuronal Calcium Sensor, Guanylate Cyclase-Activating Protein 1Soluble fusion proteins between single transmembrane photoreceptor guanylyl cyclases and their activators.The neuronal calcium sensor family of Ca2+-binding proteinsCalcium-sensitive regions of GCAP1 as observed by chemical modifications, fluorescence, and EPR spectroscopiesEnzymatic relay mechanism stimulates cyclic GMP synthesis in rod photoresponse: biochemical and physiological study in guanylyl cyclase activating protein 1 knockout miceStructural diversity of neuronal calcium sensor proteins and insights for activation of retinal guanylyl cyclase by GCAP1.Allosteric communication pathways routed by Ca(2+)/Mg(2+) exchange in GCAP1 selectively switch target regulation modes.Increased light exposure alleviates one form of photoreceptor degeneration marked by elevated calcium in the darkConformational changes in guanylate cyclase-activating protein 1 induced by Ca2+ and N-terminal fatty acid acylation.Ca(2+)-binding proteins in the retina: structure, function, and the etiology of human visual diseases.Calcium signaling: a tale for all seasonsCharacterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man.RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse modelThe crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptorsEvaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs)Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrityLong-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse modelBiochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.Photoreceptor guanylate cyclase variants: cGMP production under control.Ca(2+)-sensors and ROS-GC: interlocked sensory transduction elements: a review.Calcium-myristoyl Tug is a new mechanism for intramolecular tuning of calcium sensitivity and target enzyme interaction for guanylyl cyclase-activating protein 1: dynamic connection between N-fatty acyl group and EF-hand controls calcium sensitivityRetinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptorsGene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1.Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.Non-viral therapeutic approaches to ocular diseases: An overview and future directionsActivation and inhibition of photoreceptor guanylyl cyclase by guanylyl cyclase activating protein 1 (GCAP-1): the functional role of Mg2+/Ca2+ exchange in EF-hand domainsA novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.Effects of Ca2+, Mg2+, and myristoylation on guanylyl cyclase activating protein 1 structure and stabilityCa2+ -dependent regulation of phototransductionConstitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.Mg2+/Ca2+ cation binding cycle of guanylyl cyclase activating proteins (GCAPs): role in regulation of photoreceptor guanylyl cyclase.Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).GCAP1 mutations associated with autosomal dominant cone dystrophyRNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.
P2860
Q22008807-642DE579-4FCC-4056-A1C3-14B0BDA708CAQ24535806-51EE73A8-1305-4A5E-AA66-CAE6FE3AE317Q24539234-257D6204-7C9D-4606-A076-9370D3E60DD6Q24548026-21B0377C-7C33-4E53-888C-82546C6F5F05Q27618785-9CDC2BC9-F118-486B-A70A-122BF0117584Q27649012-1B833A8F-D4DC-4D5E-9763-09AE008E0D54Q28344268-62C9238F-BDC1-4C6A-B903-DBD5AAA48ABCQ28345058-1225611E-AD1B-444B-9B7B-AAB465FC2E5FQ28346766-84532369-05BC-4EEF-9BD8-D549AAFF37EEQ28484436-25BE82CA-83B0-4D40-A0FD-25EA88885CECQ30786544-230A20A4-F3E1-4AB5-89AE-B53696C77624Q30822493-EFE431AF-0A6A-4AD3-9984-503C38607DBDQ33521262-6A340C58-3FAB-4680-A6FB-EBBF16F2EE6BQ33657140-8F2C3F55-19AE-48A0-9096-E5C8E4A32FEAQ33866720-5881A0F2-15AD-48A3-9436-B0EDA3C648A6Q34008291-83E0B16F-F90E-4FC3-9D0E-D088B3F7FF3AQ34343088-D1CE1092-64BA-4E48-927D-389E77D55ACEQ34614424-89BFAB9B-ED21-43F8-93C5-8CA8C5EA712FQ34920546-1B064C9C-289B-4614-8DFA-D9B5BEF95D3CQ35079704-C213F6E1-079D-4FA0-A0DF-F9636D7411DEQ35172626-EC2250AD-2807-4E61-8174-E2539C69077FQ35212375-52A68EB9-666F-4F86-8D4F-B99C90758321Q35546692-62A63F2C-DEBE-4095-A33D-2571B3D398A5Q35593573-6D37F334-74CE-4A69-9239-7CBD37CCF164Q35636666-CC9E7C68-427A-4E5B-921B-1BD45F9C4E03Q35875797-89050E38-4AF3-4D1E-964F-103B8FCB8BE4Q35922370-6FE6E793-9AB9-4023-8A45-EED010DF1BEEQ36012441-35B28C25-A5AF-45E1-8EEC-02503205339FQ36074089-FBAB6072-218D-457A-A046-C399A343B542Q36401240-A65DF7A4-C886-40C3-94E7-A8689A895639Q36425890-1CD469BF-32F5-4BA0-80C0-98A480EBB032Q36724705-23E4AD74-6BDC-452B-8711-2CF1FFA7CD96Q36976213-F9BB9BFF-B1B2-48E3-AAB5-D23E281D12D9Q37088639-43FA4DA0-E0F5-479C-810A-1C0EC4625715Q37111959-3A5CF79A-804C-4257-A6C8-411F737B96BFQ37170561-04E5BEB0-F9A1-474E-8C2C-FB79B44050FEQ37642611-81DD2123-0210-433A-8F26-2F99D44E7FA3Q37683311-C37A41B3-5C82-40D7-948C-82E422CAEBD2Q37711187-607F2E49-49E0-4A35-AD95-9691CC78DE0DQ38207988-8619BB33-71E8-4DE4-812D-1AE8215ACEA1
P2860
Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Constitutive activation of pho ...... mal dominant cone degeneration
@ast
Constitutive activation of pho ...... mal dominant cone degeneration
@en
Constitutive activation of pho ...... mal dominant cone degeneration
@nl
type
label
Constitutive activation of pho ...... mal dominant cone degeneration
@ast
Constitutive activation of pho ...... mal dominant cone degeneration
@en
Constitutive activation of pho ...... mal dominant cone degeneration
@nl
prefLabel
Constitutive activation of pho ...... mal dominant cone degeneration
@ast
Constitutive activation of pho ...... mal dominant cone degeneration
@en
Constitutive activation of pho ...... mal dominant cone degeneration
@nl
P2093
P2860
P3181
P356
P1476
Constitutive activation of pho ...... mal dominant cone degeneration
@en
P2093
A M Dizhoor
E V Olshevskaya
S G Boikov
P2860
P304
P3181
P356
10.1074/JBC.273.28.17311
P407
P577
1998-07-10T00:00:00Z