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