[HTML][HTML] CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
NW Khan, B Wissinger, S Kohl… - … ophthalmology & visual …, 2007 - arvojournals.org
purpose. CNGB3 encodes the β-subunits of cyclic nucleotide-gated channels in the
photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in …
photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in …
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
AK Mayer, C Van Cauwenbergh, C Rother… - Human …, 2017 - Wiley Online Library
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision
defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is …
defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is …
[HTML][HTML] Progressive cone dystrophy associated with mutation in CNGB3
M Michaelides, IA Aligianis… - … & visual science, 2004 - jov.arvojournals.org
purpose. To determine the molecular basis for phenotypic variability in a three-generation
consanguineous family containing a single individual with complete achromatopsia and …
consanguineous family containing a single individual with complete achromatopsia and …
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
M Burkard, S Kohl, T Krätzig… - The Journal of …, 2018 - Am Soc Clin Investig
Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone
photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital …
photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital …
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide‐gated channels, resulting in achromatopsia
CNGA3 encodes the A‐subunit of the cone photoreceptor cyclic nucleotide‐gated (CNG)
channel, which is a crucial component of the phototransduction cascade in cone outer …
channel, which is a crucial component of the phototransduction cascade in cone outer …
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide‐gated channel
The CNGA3 gene encodes the A3 subunit of the cone photoreceptor cyclic nucleotide‐gated
(CNG) channel, an essential component of the phototransduction cascade. Certain …
(CNG) channel, an essential component of the phototransduction cascade. Certain …
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment
Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal
transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3 …
transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3 …
[HTML][HTML] Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel
KA Patel, KM Bartoli, RA Fandino… - … & visual science, 2005 - arvojournals.org
purpose. Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of
cone function, is caused by mutations in the α subunit of the cone cyclic nucleotide-gated …
cone function, is caused by mutations in the α subunit of the cone cyclic nucleotide-gated …
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3R427C and A3R563C
Mutations in the CNGA3 gene have been associated with complete and incomplete forms of
total colour blindness (achromatopsia), a disorder characterized by reduced visual acuity …
total colour blindness (achromatopsia), a disorder characterized by reduced visual acuity …
[HTML][HTML] CNGA3 mutations in two United Arab Emirates families with achromatopsia
Y Ahuja, S Kohl, EI Traboulsi - Molecular Vision, 2008 - ncbi.nlm.nih.gov
Purpose Achromatopsia results from mutations in one of three genes: cyclic nucleotide-
gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and …
gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and …