Recombinant Human Cyclic nucleotide-gated cation channel beta-3 (CNGB3), partial

1. The results of this study do not support the hypothesis that the focal chorioretinitis seen with high doses of AAV5-PR2.1-hCNGB3 in the initial studies was due to an immune response to human CNGB3. PMID: 29020838
2. a comprehensive view on the spectrum and prevalence of CNGB3 mutations in achromatopsia patients. PMID: 28795510
3. Although the defect that causes achromatopsia is primarily in the cone photoreceptors, our results reveal an accompanying disruption of rod function that is more severe than has previously been reported. The differential effects on the b-wave relative to the a-wave points to an inner-retinal locus for the disruption of rod function in these patients. PMID: 28929832
4. Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. Over the time scales investigated (6-26 months), achromatopsia seems to be a structurally stable condition, although longer-term follow-up is needed. PMID: 28145975
5. The degree of residual foveal cone structure varies greatly among subjects with CNGB3-associated ACHM. PMID: 27479814
6. Eight different mutations were detected in the CNGB3 gene in achromatopsia, including five novel mutations: two splice site mutations, one nonsense substitution, and two frame-shift mutations. PMID: 25558176
7. Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia. PMID: 24676353
8. Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene. PMID: 24664743
9. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
10. Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. PMID: 23940504
11. Achromatopsia associated F525N and T383fsX mutations in the CNGB3 subunit of cone photoreceptor cyclic nucleotide-gated (CNG) channels increases susceptibility to cell death in photoreceptor-derived cells. PMID: 23805033
12. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
13. Subretinal administration of rAAV5-hCNGB3 with a long version of the red cone opsin promoter in younger animals led to a stable therapeutic effect for at least 33 months. PMID: 20378608
14. Genetic analysis of two Pakistani families with retinal disease enabled the establishment of the correct diagnosis of achromatopsia. Two novel mutations were identified in CNGA3 and CNGB3 that are both specifically expressed in cone photoreceptors. PMID: 20454696
15. Our data indicate that these genes are involved in a broader spectrum of cone dysfunction, and it remains intriguing why initial cone function can be spared despite similar gene defects. PMID: 20079539
16. down-regulation of CNGA3 contributes to the pathogenic mechanism by which CNGB3 mutations lead to human cone disease. PMID: 19767295
17. NH2- and COOH-terminal calmodulin-binding sites in CNGB3 are functionally important for regulation of cyclic nucleotide-gated channel activity PMID: 12730238
18. CNGB3 has a role in determining ligand sensitivity and pore properties of heteromeric channels PMID: 12815043
19. Novel causative CNGB3 missense mutations found in Achromatopsia patients in the United Kingdom. PMID: 14757870
20. Cone photoreceptor cyclic nucleotide-gated channels are tetrameric assemblies of CNGB3 (B3) subunits. The stoichiometry and arrangement for B3 show pore-forming tetramers and like subunits are positioned adjacent to each other. PMID: 15134637
21. In this study, a novel Arg403Gln mutation was identified, located in the middle of the pore domain of the cone CNG cation channel beta-subunit, which when associated with the nonsense mutation Thr383fs, resulted in progressive cone dystrophy. PMID: 15161866
22. findings indicate that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent PMID: 15657609
23. Out of 36 achromats, 12 (33%) had mutations in CNGB3 (six different mutations including four novel mutations). CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration. PMID: 15712225
24. Mutations in CNGA3 and CNGB3 account for achromatopsia in Hungarian patients including known mutations and a few new CNGB3 mutations. PMID: 16319819
25. We have examined the gating effects of two previously uncharacterized disease-associated mutations in the CNGB3 subunit and found that in each case, the mutations resulted in a gain of function molecular phenotype. PMID: 16379026
26. Phospholipid metabolism and exogenously applied phosphatidylinositol 3,4,5-trisphosphate can modulate heterologously expressed cone CNG channels. PMID: 17018579
27. CNGA3 and CNGB3 mutations are responsible for the substantial majority of achromatopsia. Furthermore, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect PMID: 17265047
28. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
29. Foveomacular atrophy can occur in CNGB3-affected subjects, and even heterozygous carriers can exhibit maculopathy PMID: 17652762
30. The CNGB3 gene was by far the most important causal gene, and T383IfsX13 the most frequent mutation in complete and incomplete achromatopsia. PMID: 19592100

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HGNC: 2153

OMIM: 248200

KEGG: hsa:54714

STRING: 9606.ENSP00000316605

UniGene: Hs.154433