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Phosphodiesterase 6A, cGMP-specific, rod, alpha

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: Phosphodiesterase, ROD, PDE, HAD, CAN
Papers on PDE6A
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Paquet-Durand et al., Tübingen, Germany. In Hum Mol Genet, Nov 2015
Mutations in the PDE6A gene can cause rod photoreceptors degeneration and the blinding disease retinitis pigmentosa (RP).
Enriched Cultures of Retinal Cells From BJNhem20 Human Embryonic Stem Cell Line of Indian Origin.
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.
An NH moiety is not required for anion binding to amides in aqueous solution.
Cremer et al., In Langmuir, Apr 2015
Herein, we use a combination of thermodynamic and spectroscopic measurements to investigate the interactions of Hofmeister anions with a thermoresponsive polymer, poly(N,N-diethylacrylamide) (PDEA).
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Riazuddin et al., Lahore, Pakistan. In Mol Vis, 2014
Sequence conservation was performed with alignment analyses of PDE6A orthologs, and in silico splicing analysis was completed with Human Splicing Finder version 2.4.1.
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Rivolta et al., Islamabad, Pakistan. In Sci Rep, 2014
Sequence analysis of candidate genes identified four previously-reported mutations in CNGB3, CNGA3, RHO, and PDE6A, as well as three novel mutations: c.2656C > T (p.L886F) in RPGRIP1, c.991G > C (p.G331R) in CNGA3, and c.413-1G > A (IVS6-1G > A) in CNGB1.
The ever unfolding story of cAMP signaling in trypanosomatids: vive la difference!
de Koning et al., Glasgow, United Kingdom. In Front Pharmacol, 2014
However, each of the main kinetoplastid parasites express four class 1-type cyclic nucleotide-specific phosphodiesterases (PDEA-D), which have highly similar catalytic domains to that of human PDEs.
Reduction and pH dual-bioresponsive crosslinked polymersomes for efficient intracellular delivery of proteins and potent induction of cancer cell apoptosis.
Zhong et al., Suzhou, China. In Acta Biomater, 2014
Here, we report on reduction- and pH--sensitive crosslinked polymersomes based on the poly(ethylene glycol)-poly(acrylic acid)-poly(2-(diethyl amino)ethyl methacrylate) (PEG-PAA-PDEA) triblock copolymer for efficient intracellular delivery of proteins and the potent induction of cancer cell apoptosis.
Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.
Nishina et al., Bar Harbor, United States. In Plos One, 2013
In Mfrprd6 eyes, a significant 1.5- to 2.0-fold decrease was observed among transcripts of genes linked to retinal degeneration, including those involved in visual cycle (Rpe65, Lrat, Rgr), phototransduction (Pde6a, Guca1b, Rgs9), and photoreceptor disc morphogenesis (Rpgrip1 and Fscn2).
pH-responsive micelles based on (PCL)2(PDEA-b-PPEGMA)2 miktoarm polymer: controlled synthesis, characterization, and application as anticancer drug carrier.
Zhang et al., Guangzhou, China. In Nanoscale Res Lett, 2013
Amphiphilic A2(BC)2 miktoarm star polymers [poly(ϵ-caprolactone)]2-[poly(2-(diethylamino)ethyl methacrylate)-b- poly(poly(ethylene glycol) methyl ether methacrylate)]2 [(PCL)2(PDEA-b-PPEGMA)2] were developed by a combination of ring opening polymerization (ROP) and continuous activators regenerated by electron transfer atom transfer radical polymerization (ARGET ATRP).
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Hamel et al., Montpellier, France. In Mol Vis, 2012
RESULTS: We found ten mutations, seven of which were novel mutations in eight known genes, including RP1, IMPG2, NR2E3, PDE6A, PDE6B, RLBP1, CNGB1, and C2ORF71, in ten out of 15 families.
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.
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
Artemyev et al., Iowa City, United States. In J Biol Chem, 2011
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.
Brion et al., In Clin Genet, 2010
the p.Val685Met mutation in PDE6A causes retinal degeneration in humans
Direct allosteric regulation between the GAF domain and catalytic domain of photoreceptor phosphodiesterase PDE6.
Cote et al., United States. In J Biol Chem, 2008
although Pgamma-mediated regulation plays the dominant role in visual excitation, the direct, inter-domain allosteric regulation may play a feedback role in light adaptational processes during phototransduction
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
Hejtmancik et al., Bethesda, United States. In Mol Vis, 2005
Homozygous single base pair change; c.889C->T, single base pair insertion; c.2218-2219insT, and single base pair substitution in the splice acceptor site; IVS10-2A->G in each of three families.
Asymmetric interaction between rod cyclic GMP phosphodiesterase gamma subunits and alphabeta subunits.
Ruoho et al., Madison, United States. In J Biol Chem, 2005
the unique Palphabeta heterodimer contributes to the sophisticated regulation in visual transduction through interaction with Pgamma
Update on the molecular genetics of retinitis pigmentosa.
Traboulsi et al., Cleveland, United States. In Ophthalmic Genet, 2001
CNGA1 on 4p14-q13, PDE6A on 5q31.2-34,
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
Dryja et al., Boston, United States. In Nat Genet, 1995
As null mutations in PDEB cause some cases of RP and since both alpha and beta subunits are required for full phosphodiesterase activity, we examined the gene encoding the alpha subunit of cGMP phosphodiesterase (PDEA) in 340 unrelated patients with RP.
Release of phosphodiesterase activator from particulate fractions of cerebellum and striatum by putative neurotransmitters.
Costa et al., Washington, D.C., United States. In Neurochem Res, 1976
The endogenous phosphodiesterase activator (PDEA) described by Cheung (1,2) is, in part, stored as a membrane-bound protein (12,13).
A neurobiological role for a protein activator of cyclic nucleotide phosphodiesterase.
Costa et al., In Adv Biochem Psychopharmacol, 1975
This work supports the idea that PDEA is bound and stored in brain particulate fraction.
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