An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation
Sign Up to like & getrecommendations! Published in 2018 at "Experimental Eye Research"
DOI: 10.1016/j.exer.2018.02.027
Abstract: Abstract The cyclic nucleotide‐gated (CNG) channel ‐ composed of CNGA3 and CNGB3 subunits ‐ mediates the influx of cations in cone photoreceptors after light stimulation and thus is a key element in cone phototransduction. Mutations… read more here.
Keywords: short isoform; early nonsense; cnga3; isoform ... See more keywords
Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0188032
Abstract: Adeno-associated virus (AAV) vectors are important gene delivery tools for the treatment of many recessively inherited retinal diseases. For example, a wild-type (WT) AAV5 vector can deliver a full-length Cnga3 (cyclic nucleotide-gated channel alpha-3) cDNA… read more here.
Keywords: vector; term; cnga3; long term ... See more keywords
Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13040617
Abstract: Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestations of achromatopsia, a partial… read more here.
Keywords: cone photoreceptor; cone; pakistani families; cnga3 ... See more keywords