Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2016.5213
Abstract: Importance There are limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants. These data are needed both for prognostic counseling of patients and for understanding potential treatment windows. Objective To… read more here.
Keywords: clinical characterization; cngb1; retinitis pigmentosa; retinitis ... See more keywords
CNGB1‐related rod‐cone dystrophy: A mutation review and update
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DOI: 10.1002/humu.24205
Abstract: Cyclic nucleotide‐gated channel β1 (CNGB1) encodes the 240‐kDa β subunit of the rod photoreceptor cyclic nucleotide‐gated ion channel. Disease‐causing sequence variants in CNGB1 lead to autosomal recessive rod‐cone dystrophy/retinitis pigmentosa (RP). We herein present a… read more here.
Keywords: cngb1; rod; rod cone; cngb1 related ... See more keywords
Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of structural biology"
DOI: 10.1016/j.jsb.2021.107828
Abstract: The recently reported structure of the human CNGA1/CNGB1 CNG channel in the open state (Xue et al., 2021a) shows that one CNGA1 and one CNGB1 subunit do not open the central hydrophobic gate completely upon… read more here.
Keywords: gate; cnga1 cngb1; density; additional density ... See more keywords
In vivo potency testing of subretinal rAAV5.hCNGB1 gene therapy in the Cngb1 knockout mouse model of retinitis pigmentosa.
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DOI: 10.1089/hum.2021.121
Abstract: Retinitis pigmentosa type 45 (RP45) is an autosomal-recessively inherited blinding disease caused by mutations in the cyclic nucleotide gated channel subunit beta 1 (CNGB1) gene. In this study, we developed and tested a novel gene… read more here.
Keywords: cngb1; therapy; gene; raav5 hcngb1 ... See more keywords
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis
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DOI: 10.3390/ijms23126785
Abstract: Cyclic nucleotide-gated channel β 1 (CNGB1) encodes a subunit of the rod cyclic nucleotide-gated channel. Pathogenic variants in CNGB1 are responsible for 4% of autosomal recessive retinitis pigmentosa (RP). Several treatment strategies show promise for… read more here.
Keywords: natural history; cngb1 related; longitudinal phenotypic; history cngb1 ... See more keywords