| 1 | GUCA1A, GUCY2D
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| Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
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| Abbas S, Marino V, Weisschuh N, Kieninger S, Solaki M, Dell'Orco D, Koch KW.
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| ACS Chem Neurosci. May 20;11(10):1458-1470. doi: 10.1021/acschemneuro.0c00111. Epub 2020 Apr 29 2020
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| 2 | CORD5, CORD6, GUCY2D, LCA1
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| Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
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| Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW.
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| Front Mol Neurosci. Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018. 2018
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| 3 | GUCY2D, RD3
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| Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein.
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| Peshenko IV, Olshevskaya EV, Dizhoor AM.
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| J Biol Chem. Sep 9;291(37):19713-23. doi: 10.1074/jbc.M116.742288. Epub 2016 Jul 28. 2016
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| 4 | GUCA1A, GUCY2D
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| Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.
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| Peshenko IV, Olshevskaya EV, Dizhoor AM.
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| J Biol Chem. Aug 7;290(32):19584-96. doi: 10.1074/jbc.M115.661371. Epub 2015 Jun 22. 2015
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| 5 | GUCY2D, GUCY2F, RD3
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| Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. 2014 PMID:
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| Molday LL, Jefferies T, Molday RS.
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| Front Mol Neurosci. May 26;7:44. doi: 10.3389/fnmol.2014.00044. 2014
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| 6 | GUCA1A, GUCY2D
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| Enzymatic relay mechanism stimulates cyclic GMP synthesis in rod photoresponse: biochemical and physiological study in guanylyl cyclase activating protein 1 knockout mice.
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| Makino CL, Wen XH, Olshevskaya EV, Peshenko IV, Savchenko AB, Dizhoor AM.
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| PLoS One. 7(10):e47637. doi: 10.1371/journal.pone.0047637. Epub 2012 Oct 17. 2012
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| 7 | GUCY2D
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| Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse.
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| Boye SL, Conlon T, Erger K, Ryals R, Neeley A, Cossette T, Pang J, Dyka FM, Hauswirth WW, Boye SE.
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| Invest Ophthalmol Vis Sci. 52(10):7098-108. 2011
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| 8 | GUCY2D, RD3
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| Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.
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| Peshenko IV, Olshevskaya EV, Azadi S, Molday LL, Molday RS, Dizhoor AM.
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| Biochemistry 50(44):9511-9. doi: 10.1021/bi201342b. Epub 2011 Oct 11.
2011
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| 9 | GUCA1A, GUCA1B, GUCY2D, GUCY2F
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| Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors
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| Peshenko IV, Olshevskaya EV, Savchenko AB, Karan S, Palczewski K, Baehr W, Dizhoor AM
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| Biochemistry Jun 28;50(25):5590-600. doi: 10.1021/bi200491b. Epub 2011 Jun 6. 2011
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| 10 | CORD6, GUCY2D
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| A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
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| Ugur Iseri SA, Durlu YK, Tolun A.
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| Eur J Hum Genet ur J Hum Genet. 2010 Jun 2. [Epub ahead of print]PMID: 20517349 2010
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| 11 | GUCY2D
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| Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.
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| Karan S, Frederick JM, Baehr W.
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| Mol Cell Biochem 334(1-2):141-55. Epub 2009 Dec 9. Review.PMID: 20012162 2010
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| 12 | GUCA1A, GUCY2D, PDE2A
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| Ca(2+) sensor GCAP1: A constitutive element of the ONE-GC-modulated odorant signal transduction pathway.
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| Pertzev A, Duda T, Sharma RK.
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| Biochemistry 49(34):7303-13.PMID: 20684533 2010
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| 13 | GUCY2D, GUCY2F, LCA12, RD3
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| RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
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| Azadi S, Molday LL, Molday RS.
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| Proc Natl Acad Sci U S A 107(49):21158-63. Epub 2010 Nov 15.
2010
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| 14 | GUCY2D
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| Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse.
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| Boye SE, Boye SL, Pang J, Ryals R, Everhart D, Umino Y, Neeley AW, Besharse J, Barlow R, Hauswirth WW.
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| PLoS One. 5(6):e11306. 2010
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| 15 | GUCY2D, LCA1
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| Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
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| Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM.
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| Mol Vis 15:1781-7.PMID: 1975331 2009
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| 16 | GUCY2D, LCA1
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| Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.
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| Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, Ayuso C.
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| Hum Genet 125(3):349. No abstract available. PMID: 19320033 2009
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| 17 | AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, LRAT, Lebercilin, MERTK, RD3, RDH12, RPE65, RPGRP1, TULP1
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| Leber congenital amaurosis: genes, proteins and disease mechanisms.
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| den Hollander AI, Roepman R, Koenekoop RK, Cremers FP
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| Prog Retin Eye Res. Jul;27(4):391-419 2008
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| 18 | GUCY2D
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| Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration
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| Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadalà M, Birch DG, Wissinger B, Zrenner E, Kohl S.
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| Invest Ophthalmol Vis Sci. 49(11):5015-23 2008
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| 19 | GUCY2D
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| Neurocalcin delta modulation of ROS-GC1, a new model of Ca(2+) signaling.
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| Venkataraman V, Duda T, Ravichandran S, Sharma RK.
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| Biochemistry 47(25):6590-601.PMID: 18500817 2008
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| 20 | CORD6, GUCY2D
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| New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
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| Small KW, Silva-Garcia R, Udar N, Nguyen EV, Heckenlively JR.
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| Arch Ophthalmol 126(3):397-403.PMID: 18332321 2008
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| 21 | GUCA1A, GUCY2D
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| Binding of guanylyl cyclase activating protein 1 (GCAP1) to retinal guanylyl cyclase (RetGC1). The role of individual EF-hands.
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| Peshenko IV, Olshevskaya EV, Dizhoor AM.
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| J Biol Chem 283(31):21747-57. Epub 2008 Jun 9.PMID: 18541533 2008
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| 22 | GUCY2D, NCALD
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| Neurocalcin delta modulation of ROS-GC1, a new model of Ca(2+) signaling.
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| Venkataraman V, Duda T, Ravichandran S, Sharma RK.
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| Biochemistry 47(25):6590-601. doi: 10.1021/bi800394s.
2008
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| 23 | GUCY2D, CORD6
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| Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
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| Smith M, Whittock N, Searle A, Croft M, Brewer C, Cole M.
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| Eye 21(9):1220-5. Epub 2006 Oct 13. 2007
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| 24 | GUCY2D
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| Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.
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| Avila-Fernandez A, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Ayuso C
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| Hum Genet. Jun;121(5):650-1 2007
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| 25 | GUCY2D
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| Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.
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| Williams ML, Coleman JE, Haire SE, Aleman TS, Cideciyan AV, Sokal I, Palczewski K, Jacobson SG, Semple-Rowland SL.
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| PLoS Med. Jun;3(6):e201. 2006
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| 26 | GUCY2D
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| A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
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| Perrault I, Hanein S, Gerber S, Lebail B, Vlajnik P, Barbet F, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM.
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| Hum Mutat. Feb;25(2):222. 2005
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| 27 | GUCY2D, LCA2
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| A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
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| Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I.
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| Ophthalmic Genet 25(3):205-17. 2004
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| 28 | GUCA1A, GUCY2D
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| Guanylyl cyclase-activating proteins (GCAPs) are Ca2+/Mg2+ sensors: implications for photoreceptor guanylyl cyclase (RetGC) regulation in mammalian photoreceptors.
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| Peshenko IV, Dizhoor AM.
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| J Biol Chem 279(17):16903-6. Epub 2004 Mar 1. 2004
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| 29 | GUCY2D
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| Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
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| Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, Koenekoop RK.
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| Mol Vis. 20;10:297-303 2004
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| 30 | GUCY2D, NCALD
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| Structural, biochemical, and functional characterization of the calcium sensor neurocalcin delta in the inner retinal neurons and its linkage with the rod outer segment membrane guanylate cyclase transduction system.
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| Krishnan A, Venkataraman V, Fik-Rymarkiewicz E, Duda T, Sharma RK.
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| Biochemistry 43(10):2708-23.
2004
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| 31 | GUCY2D
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| Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
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| Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, Silva-Garcia R, Vrabec T, Hussles Maumene
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| Hum Mutat. Feb;21(2):170-1 2003
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| 32 | CRB1, GUCY2D, RPGRIP1
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| Molecular genetics of Leber congenital amaurosis.
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| Cremers FP, Van Den Hurk JA, Den Hollander AI.
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| Hum Mol Genet 11(10):1169-76. 2002
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| 33 | GUCY2D
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| Retinal diseases linked with photoreceptor guanylate cyclase.
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| Duda T, Koch KW.
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| Mol Cell Biochem 230(1-2):129-38. Review. 2002
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| 34 | CORD6, GUCY2D
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| Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
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| Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS, Hunt DM.
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| J Med Genet 38(9):611-4. No abstract available. 2001
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| 35 | GUCY2D
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| Inhibition of retinal guanylyl cyclase by the RGS9-1 N-terminus.
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| Yu H, Bondarenko VA, Yamazaki A.
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| Biochem Biophys Res Commun. 286(1):12-9. 2001
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| 36 | ALOX12, ATP1B2, CD68, CHD3, CHRNB1, EIF4A1, FGF11, FXR2, GUCY2D, KDM6B, NEUROD2, SHBG, TNFSF12, TNFSF13, TP53
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| Physical Map of 17p13 and the Genes Adjacent to p53.
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| Cousin P, Billotte J, Chaubert P, Shaw P.
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| Genomics 63(1):60-68. 2000
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| 37 | CORD6, GUCY2D
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| Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
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| Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT.
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| Ophthalmology 107(1):55-61. 2000
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| 38 | CORD6, GUCY2D, LCA1
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| Spectrum of retGC1 mutations in Leber's congenital amaurosis.
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| Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier JL, Munnich A, Kaplan J.
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| Eur J Hum Genet 8(8):578-82. 2000
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| 39 | CORD6, GUCY2D
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| Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
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| Wilkie SE, Newbold RJ, Deery E, Walker CE, Stinton I, Ramamurthy V, Hurley JB, Bhattacharya SS, Warren MJ, Hunt DM.
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| Hum Mol Genet 9(20):3065-73. 2000
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| 40 | GUCY2D, LCA1, LCA2, RPE65
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| Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis.
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| Perrault I, Rozet JM, Ghazi I, Leowski C, Bonnemaison M, Gerber S, Ducroq D, Cabot A, Souied E, Dufier JL, Munnich A, Kaplan J.
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| Am J Hum Genet 64(4):1225-8. 1999
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| 41 | GUCA1B, GUCY2D
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| Identification of a guanylyl cyclase-activating protein-binding site within the catalytic domain of retinal guanylyl cyclase 1.
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| Sokal I, et al.
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| Biochemistry 38(5):1387-93. 1999
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| 42 | CORD6, GUCY2D
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| Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.
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| Tucker CL, et al.
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| Proc Natl Acad Sci U S A 96(16):9039-44. 1999
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| 43 | GUCY2D, LCA1, LCA2, LCA6, RPE65
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| Leber Congenital Amaurosis.
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| Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J.
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| Mol Genet Metab 68(2):200-208 1999
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| 44 | CORD6, GUCY2D
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| Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling.
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| Duda T, Krishnan A, Venkataraman V, Lange C, Koch KW, Sharma RK.
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| Biochemistry 38(42):13912-9 1999
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| 45 | CORD6, GUCY2D
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| Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
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| Kelsell RE, et al.
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| Hum Mol Genet 7 : 1179-1184. 1998
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| 46 | CORD6, GUCY2D
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| A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
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| Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, Kaplan J.
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| Am J Hum Genet 63 : 651-654. 1998
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| 47 | GUCA1B, GUCY2D, GUCY2F
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| The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2.
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| Laura RP, Hurley JB.
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| Biochemistry 37(32):11264-71. 1998
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| 48 | GUCY2D, LCA1
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| Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
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| Perrault I, et al.
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| Nat Genet 14 : 461-464. 1996
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| 49 | GUCY2D
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| Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2.
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| Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB.
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| Proc Natl Acad Sci U S A 92(12):5535-9.PMID: 7777544 1995
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| 50 | GUCY2D
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| Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.
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| Oliveira L, et al.
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| Genomics 22 : 478-481. 1994
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| 51 | GUCY2D
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| Molecular cloning of a retina-specific membrane guanylyl cyclase.
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| Shyjan AW, et al.
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| Neuron 9 : 727-737. 1992
|