Citations for
1PDE6A, PDE6B, PDE6G, PDE6H
Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity.
Lagman D, Franzén IE, Eggert J, Larhammar D, Abalo XM.
BMC Evol Biol. Jun 13;16(1):124. doi: 10.1186/s12862-016-0695-z. 2016
2PDE6A, PDE6B
Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
Muradov H, Boyd KK, Artemyev NO.
J Biol Chem 285(51):39828-34. Epub 2010 Oct 12. 2010
3PDE6A, RP43
Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.
Tuntivanich N, Pittler SJ, Fischer AJ, Omar G, Kiupel M, Weber A, Yao S, Steibel JP, Khan NW, Petersen-Jones SM.
Invest Ophthalmol Vis Sci. 50(2):801-13 2009
4AIPL1, PDE6A
AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
Kolandaivelu S, Huang J, Hurley JB, Ramamurthy V.
J Biol Chem 284(45):30853-61. Epub 2009 Sep 16.PMID: 19758987 2009
5PDE6A, PDE6B, PDE6G
Direct allosteric regulation between the GAF domain and catalytic domain of photoreceptor phosphodiesterase PDE6.
Zhang XJ, Cahill KB, Elfenbein A, Arshavsky VY, Cote RH.
J Biol Chem 283(44):29699-705. Epub 2008 Sep 8. 2008
6PDE6A, RP43
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF.
Mol Vis 12:1283-91. 2006
7SDHC, PDE6A
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.
Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE.
J Med Genet 41(9):703-9. No abstract available. 2004
8CRX,NRL,PDE6A
Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.
Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB.
J Biol Chem 279(19):19800-7. Epub 2004 Mar 4. 2004
9ARRP2, PDE6A, PDE6B, RP43
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
Dryja TP, et al.
Invest Ophthalmol Vis Sci 40(8):1859-65 1999
10PDE6A, RP43
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Dryja TP, et al.
Proc Natl Acad Sci U S A 92 : 10177-10181. 1995
11PDE6A, RP43
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
Huang SH, et al.
Nat Genet 11 : 468-471. 1995
12PDE6A
Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.
Pittler SJ, et al.
Genomics 6 : 272-283. 1990