| 1 | PDE6A, RP43
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| A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy
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| Hayashi T, Mizobuchi K, Kameya S, Yoshitake K, Iwata T, Nakano T.
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| Doc Ophthalmol. Aug;143(1):107-114. doi: 10.1007/s10633-021-09826-y. Epub 2021 Feb 21 2021
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| 2 | PDE6A, PDE6B
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| Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa
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| Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH.
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| Ophthalmic Genet. Oct;39(5):610-614. doi: 10.1080/13816810.2018.1509354. Epub 2018 Aug 28. 2018
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| 3 | PDE6A, RP43
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| Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43).
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| Schön C, Sothilingam V, Mühlfriedel R, Garcia Garrido M, Beck SC, Tanimoto N, Wissinger B, Paquet-Durand F, Biel M, Michalakis S, Seeliger MW.
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| Hum Gene Ther. Dec;28(12):1180-1188. doi: 10.1089/hum.2017.156. 2017
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| 4 | PDE6A, PDE6B, PDE6C, PDE6G, PDE6H
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| Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity
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| Lagman D, Franzén IE, Eggert J, Larhammar D, Abalo XM.
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| BMC Evol Biol. Jun 13;16(1):124. doi: 10.1186/s12862-016-0695-z. 2016
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| 5 | PDE6A, RP43
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| Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
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| Sothilingam V, Garcia Garrido M, Jiao K, Buena-Atienza E, Sahaboglu A, Trifunović D, Balendran S, Koepfli T, Mühlfriedel R, Schön C, Biel M, Heckmann A, Beck SC, Michalakis S, Wissinger B, Seeliger MW, Paquet-Durand F.
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| Hum Mol Genet. Oct 1;24(19):5486-99. doi: 10.1093/hmg/ddv275. Epub 2015 Jul 17 2015
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| 6 | AIPL1, PDE6A
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| Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety
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| Majumder A, Gopalakrishna KN, Cheguru P, Gakhar L, Artemyev NO.
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| J Biol Chem. Jul 19;288(29):21320-21328. doi: 10.1074/jbc.M113.476242. Epub 2013 Jun 4. 2013
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| 7 | PDE6A, PDE6B
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| Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
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| Muradov H, Boyd KK, Artemyev NO.
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| J Biol Chem 285(51):39828-34. Epub 2010 Oct 12.
2010
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| 8 | PDE6A, RP43
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| Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation.
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| Tuntivanich N, Pittler SJ, Fischer AJ, Omar G, Kiupel M, Weber A, Yao S, Steibel JP, Khan NW, Petersen-Jones SM.
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| Invest Ophthalmol Vis Sci. 50(2):801-13 2009
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| 9 | AIPL1, PDE6A
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| AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly.
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| Kolandaivelu S, Huang J, Hurley JB, Ramamurthy V.
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| J Biol Chem 284(45):30853-61. Epub 2009 Sep 16.PMID: 19758987 2009
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| 10 | PDE6A, PDE6B, PDE6G
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| Direct allosteric regulation between the GAF domain and catalytic domain of photoreceptor phosphodiesterase PDE6.
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| Zhang XJ, Cahill KB, Elfenbein A, Arshavsky VY, Cote RH.
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| J Biol Chem 283(44):29699-705. Epub 2008 Sep 8.
2008
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| 11 | PDE6A, RP43
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| Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
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| 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.
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| Mol Vis 12:1283-91. 2006
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| 12 | SDHC, PDE6A
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| An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.
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| Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE.
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| J Med Genet 41(9):703-9. No abstract available. 2004
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| 13 | CRX,NRL,PDE6A
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| Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.
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| Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB.
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| J Biol Chem 279(19):19800-7. Epub 2004 Mar 4. 2004
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| 14 | ARRP2, PDE6A, PDE6B, RP43
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| Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
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| Dryja TP, et al.
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| Invest Ophthalmol Vis Sci 40(8):1859-65 1999
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| 15 | PDE6A, RP43
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| Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
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| Dryja TP, et al.
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| Proc Natl Acad Sci U S A 92 : 10177-10181. 1995
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| 16 | PDE6A, RP43
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| Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
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| Huang SH, et al.
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| Nat Genet 11 : 468-471. 1995
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| 17 | PDE6A
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| Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.
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| Pittler SJ, et al.
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| Genomics 6 : 272-283. 1990
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