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Phosphodiesterase 6C, cGMP-specific, cone, alpha prime

PDE6C, PDEA2
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: Phosphodiesterase, ROD, PDE, AGE, HAD
Papers on PDE6C
Active 3'-5' cyclic nucleotide phosphodiesterases are present in detergent-resistant membranes of mural granulosa cells.
New
Richard et al., In Reprod Fertil Dev, Feb 2016
PDE6C, PDE8A and PDE11A were detected by dot blot in the DRMs and the Triton-soluble fraction of the mural granulosa cells membrane and the cytosol.
Enriched Cultures of Retinal Cells From BJNhem20 Human Embryonic Stem Cell Line of Indian Origin.
New
Vauhini et al., Hyderābād, India. In Invest Ophthalmol Vis Sci, Nov 2015
Neuro-retinal cells expressed the neural markers, Map2, β-III tubulin, acetylated tubulin and photoreceptor-specific markers, Crx, rhodopsin, recoverin, calbindin, PKC, NeuroD1, RLBP1, rhodopsin kinase, PDE6A, and PDE6C.
Mutation of ATF6 causes autosomal recessive achromatopsia.
New
Leal et al., Houston, United States. In Hum Genet, Sep 2015
Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM.
Phosphodiesterase sequence variants may predispose to prostate cancer.
New
Faucz et al., Washington, D.C., United States. In Endocr Relat Cancer, Aug 2015
Four novel sequence variations, one each in the PDE4B,PDE6C, PDE7B and PDE10A genes, respectively, were also found in the PCa samples.
Exchange of Cone for Rod Phosphodiesterase 6 Catalytic Subunits in Rod Photoreceptors Mimics in Part Features of Light Adaptation.
New
Artemyev et al., Iowa City, United States. In J Neurosci, Jul 2015
We examined the role of cGMP phosphodiesterase (PDE6) in this difference by expressing cone PDE6 (PDE6C) in rd1/rd1 rods lacking rod PDE6 (PDE6AB) using transgenic mice.
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
New
Iwata et al., Tokyo, Japan. In Ophthalmic Genet, Jun 2015
The genetic analysis identified a novel homozygous PDE6C mutation (p.E591K) as the disease-causing allele in the siblings.
Novel CNGA3 mutations in Chinese patients with achromatopsia.
New
Sui et al., Beijing, China. In Br J Ophthalmol, Apr 2015
All exons of CNGA3, CNGB3, GNAT2, PDE6C and PDE6H were amplified by a PCR and screened for mutation by direct Sanger sequencing.
Genomic evidence for rod monochromacy in sloths and armadillos suggests early subterranean history for Xenarthra.
New
Springer et al., Riverside, United States. In Proc Biol Sci, Mar 2015
We concluded that a stem xenarthran became an long-wavelength sensitive-cone monochromat following a missense mutation at a critical residue in SWS1, and a stem cingulate (armadillos, glyptodonts and pampatheres) and stem pilosan (sloths and anteaters) independently acquired rod monochromacy early in their evolutionary history following the inactivation of LWS and PDE6C, respectively.
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
Artemyev et al., Iowa City, United States. In Mol Cell Neurosci, 2015
To probe these mechanisms, we expressed seven known missense mutants of cone PDE6C in rods of transgenic Xenopus laevis and examined their stability and compartmentalization. PDE6C proteins with mutations in the catalytic domain, H602L and E790K, displayed modestly reduced proteolytic stability, but they were properly targeted to the outer segment of photoreceptor cells.
Achromatopsia caused by novel missense mutations in the CNGA3 gene.
Zhang et al., Tianjin, China. In Int J Ophthalmol, 2014
To further confirm and localize the causative mutations in this family, targeted region capture and next-generation sequencing of candidate genes, such as CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H were performed using a custom-made capture array.
Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish.
Gregory-Evans et al., Vancouver, Canada. In Cell Death Differ, 2014
In most cases, mutations have been identified in CNGA3, CNGB3, GNAT2, PDE6C or PDE6H genes.
Derivation of human differential photoreceptor cells from adult human dermal fibroblasts by defined combinations of CRX, RAX, OTX2 and NEUROD.
Umezawa et al., Tokorozawa, Japan. In Genes Cells, 2014
Transduction of a combination of the CRX, RAX and NEUROD genes up-regulated expression of the photoreceptor-specific genes, recoverin, blue opsin and PDE6C, in all three strains of human dermal fibroblasts that were tested.
Expression of phosphodiesterase 6 (PDE6) in human breast cancer cells.
Epstein et al., Farmington, United States. In Springerplus, 2012
By microarray analysis we find highly significant expression of mRNA for the PDE6B, PDE6C, and PDE6D genes in both the cell lines and patients' tissues, minimal expression of PDE6A and PDE6G and no expression of PDE6H.
[Progress on study of achromatopsia and targeted gene therapy].
Review
Pang et al., Wenzhou, China. In Zhonghua Yan Ke Za Zhi, 2012
To date, four genes have been found to be implicated in achromatopsia-associated mutations: guanine nucleotide-binding protein (GNAT2), cyclic nucleotide-gated channel alpha-3 (CNGA3), cyclic nucleotide-gated channel beta-3 (CNGB3) and phosphodiesterase 6C (PDE6C).
Clinical utility gene card for: achromatopsia.
GeneRIF
Hamel et al., Tübingen, Germany. In Eur J Hum Genet, 2011
Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia.
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
GeneRIF
Kohl et al., Tübingen, Germany. In Hum Mol Genet, 2011
Eleven different PDE6C mutations were found including two nonsense mutations, three mutations affecting transcript splicing as shown by minigene assays, one 1 bp-insertion and five missense mutations
Characterization of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods.
GeneRIF
Artemyev et al., Iowa City, United States. In J Biol Chem, 2009
analysis of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
GeneRIF
Wissinger et al., Bar Harbor, United States. In Proc Natl Acad Sci U S A, 2009
the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia was reported.
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
GeneRIF
Klaver et al., Rotterdam, Netherlands. In Am J Hum Genet, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Achromatopsia
Review
Wissinger et al., Seattle, United States. In Unknown Journal, 2004
Identification of biallelic pathogenic variants in CNGB3, CNGA3, GNAT2, PDE6C, ATF6, or PDE6H confirms the clinical diagnosis and allows for family studies.
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