Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit

scientific article (publication date: July 2005)

Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1152/AJPCELL.00490.2004
P698PubMed publication ID15743887
P5875ResearchGate publication ID7989965

P2093author name stringChunming Liu
Michael D Varnum
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An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindnessQ43968735
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Characterization of the signaling interactions that promote the survival and growth of developing retinal ganglion cells in cultureQ46084557
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Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.Q48000434
Effects of mutation at a conserved N-glycosylation site in the bovine retinal cyclic nucleotide-gated ion channelQ48886278
Localization of regions affecting an allosteric transition in cyclic nucleotide-activated channelsQ49060417
Rod and cone photoreceptor cells express distinct genes for cGMP-gated channelsQ49146539
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channelQ28115254
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesteraseQ28118318
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1Q28118822
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Mutations in RPE65 cause Leber's congenital amaurosisQ28250918
Subunit configuration of heteromeric cone cyclic nucleotide-gated channelsQ28260909
Primary structure and functional expression of a cyclic nucleotide-activated channel from olfactory neuronsQ28323467
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C-Linker of cyclic nucleotide-gated channels controls coupling of ligand binding to channel gatingQ28369482
A second subunit of the olfactory cyclic nucleotide-gated channel confers high sensitivity to cAMPQ28565745
Subunit stoichiometry of the CNG channel of rod photoreceptorsQ28609926
Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunitQ28609927
Amplification and kinetics of the activation steps in phototransductionQ28708075
Cyclic nucleotide-gated ion channelsQ29615754
Molecular genetics of human retinal diseaseQ33847668
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.Q33915100
Subunit interactions in the activation of cyclic nucleotide-gated ion channelsQ34017906
Facilitation of calmodulin-mediated odor adaptation by cAMP-gated channel subunitsQ34104697
Functionally Important Calmodulin-binding Sites in Both NH2- and COOH-terminal Regions of the Cone Photoreceptor Cyclic Nucleotide-gated Channel CNGB3 SubunitQ34194690
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channelsQ34207040
Dark adaptation.Q34290510
Gating of single Shaker potassium channels in Drosophila muscle and in Xenopus oocytes injected with Shaker mRNA.Q34305026
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Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel functionQ34329851
Primary structure and functional expression from complementary DNA of the rod photoreceptor cyclic GMP-gated channelQ34661810
Cyclic GMP and calcium: the internal messengers of excitation and adaptation in vertebrate photoreceptorsQ34993884
Color vision.Q35062648
Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.Q35593573
Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.Q36401240
Mechanism of tetracaine block of cyclic nucleotide-gated channelsQ36411840
Tetracaine reports a conformational change in the pore of cyclic nucleotide-gated channelsQ36435984
Cyclic GMP-activated conductance of retinal photoreceptor cellsQ38199952
Cloning and functional expression of a cyclic-nucleotide-gated channel from mammalian spermQ40388041
Cyclic nucleotide-gated ion channels: an extended family with diverse functionsQ41117720
Structure and function of cyclic nucleotide-gated channelsQ41132646
Molecular cloning, functional expression and chromosomal localization of a human homolog of the cyclic nucleotide-gated ion channel of retinal cone photoreceptorsQ41167265
A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptorQ41306144
Cyclic nucleotide-gated channels: structural basis of ligand efficacy and allosteric modulationQ41592092
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectphotoreceptor proteinQ7187894
P304page(s)C187-98
P577publication date2005-07-01
P1433published inAmerican Journal of Physiology - Cell PhysiologyQ2227080
P1476titleFunctional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit
P478volume289

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