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The c.1618G>A, p.Gly540Ser substitution in CNGA3 was identified as the causative mutation for a novel form of ACHM in Awassi sheep. Gene augmentation therapy restored vision in the affected sheep. This novel mutation provides a large-animal model that is valid for most human CNGA3 ACHM patients; the majority of them carry missense rather than premature-termination mutations.
Four mutations (c.1682G>A;p.G561E, c.139C>T;p.Q47*, c.784G>C;p.A282P, c.1116delC;p.V373*) represent novel mutations of CNGA3 reported herein for the first time in patients with Achromatopsia.
The two novel mutations found in the CNGA3 gene, c.997_998delGA and p.M424V, can cause complete achromatopsia. The vision of the patient was stationary until the third decade of life although the FAF was altered at the age of 22 years.
The c.955T>C change identified in large consanguineous Pakistani family represents the first variant of CNGA3 which was found to be responsible for the cone-rod dystrophy phenotype.
Among Israeli and Palestinian patients, CNGA3 mutations are the leading cause of achromatopsia. Retinal structural results support the candidacy of CNGA3 ACHM for clinical trials for therapy of cone photoreceptors.
CNGA3 mutation is the most frequent cause of achromatopsia in this cohort of patients. Ten novel mutations were identified in CNGA3.
Our results suggest that CNGA3 mutations are a common cause of cone-rod dystrophies and achromatopsia in the Chinese population.
Genetic testing revealed a common homozygous mutation in CNGB3 (zeige CNGB3 ELISA Kits) in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia.
CNGA3 alternative splicing may have evolved, in part, to tune the interactions between cone CNG (zeige CNGA1 ELISA Kits) channels and membrane-bound phosphoinositides.
The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (zeige CNGB3 ELISA Kits) (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
CNGA3 expression restored cone function in in CNGA3-/-/Nrl (zeige NRL ELISA Kits)-/- mice, an all-cone model of CNGA3 achromatopsia.
cGMP/protein kinase (zeige CDK7 ELISA Kits) G signaling suppresses Itpr1 (zeige ITPR1 ELISA Kits) phosphorylation and promotes endoplasmic reticulum stress in photoreceptors of Cnga3-deficient mice.
Homologous to the human disease, CNGA3 deficient mice reveal a loss of cone specific functionality leading to degeneration of affected cone photoreceptors. (review)
This work investigated the functional modulation of cone CNG (zeige CNGA1 ELISA Kits) channel by exploring the channel-interacting proteins.
The results of this study indicated that cGMP accumulation in photoreceptors can itself exert cytotoxic effect in cones, independently of CNG (zeige CNGA1 ELISA Kits) channel activity and Ca(2 (zeige CA2 ELISA Kits)+) influx.
observed a nuclear translocation of apoptosis-inducing factor (AIF (zeige AIFM1 ELISA Kits)) and endonuclease G (zeige ENDOG ELISA Kits) in CNGA3(-/-)/Nrl (zeige NRL ELISA Kits)(-/-) and CNGB3 (zeige CNGB3 ELISA Kits)(-/-)/Nrl (zeige NRL ELISA Kits)(-/-) retinas, implying a mitochondrial insult in the endoplasmic reticulum stress-activated cell death process
Pull-down assays indicated that the binding to organ of Corti CNGA3 was attributable to the EMILIN1 (zeige EMILIN1 ELISA Kits) intracellular sequence that follows a predicted transmembrane domain in the C-terminus
Cone CNG (zeige CNGA1 ELISA Kits) channel is a heterotetrameric complex likely at a stoichiometry of three CNGA3 and one CNGB3 (zeige CNGB3 ELISA Kits).
This study provided evidence that CNGA3 contributes in an inhibitory manner to the central sensitization of pain pathways during inflammatory pain as a target of NO/cGMP signaling.
The wild type and mutant CNGA3 were expressed in HEK293 cells, the channel's expression and cellular localization were examined by immunoblotting and immunofluorecences labeling, and activity of the channel was evaluated.
the S4 structural motif of CNGA3 is important for cellular processing of cone photoreceptor cyclic GMP (zeige NT5C2 ELISA Kits)-gated ion channels
This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described.
cyclic nucleotide-gated channel cone photoreceptor subunit alpha
, CNG channel 1
, alpha subunit of cone photoreceptor CNG-channel
, cyclic nucleotide gated channel alpha 3
, hyperpolarization activated cyclic nucleotide-gated potassium channel 3
, hyperpolarization-activated cation channel 3
, cyclic nucleotide gated channel alpha 3 protein
, cyclic nucleotide-gated cation channel alpha-3-like
, potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3-like
, CNG channel 3
, alpha subunit of rod photoreceptor CNG-channel
, cyclic nucleotide-gated channel rod photoreceptor subunit alpha
, CNG channel alpha-3
, cone photoreceptor cGMP-gated channel alpha subunit
, cone photoreceptor cGMP-gated channel subunit alpha
, cyclic nucleotide-gated cation channel alpha-3
, cyclic nucleotide-gated channel alpha-3