These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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; 2004 Apr; 10():297-303. PubMed ID: 15123990 [TBL] [Abstract][Full Text] [Related]
5. Allosteric Communication of the Dimerization and the Catalytic Domain in Photoreceptor Guanylate Cyclase. Shahu MK; Schuhmann F; Wong SY; Solov'yov IA; Koch KW Biochemistry; 2024 Sep; 63(17):2131-2140. PubMed ID: 39175413 [TBL] [Abstract][Full Text] [Related]
6. Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase. Peshenko IV; Olshevskaya EV; Dizhoor AM J Biol Chem; 2021 Oct; 297(4):101201. PubMed ID: 34537244 [TBL] [Abstract][Full Text] [Related]
7. Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations. Zägel P; Koch KW Front Mol Neurosci; 2014; 7():4. PubMed ID: 24616660 [TBL] [Abstract][Full Text] [Related]
8. Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient. Takeda Y; Kubota D; Oishi N; Maruyama K; Gocho K; Yamaki K; Igarashi T; Takahashi H; Kameya S J Nippon Med Sch; 2020 May; 87(2):92-99. PubMed ID: 32009068 [TBL] [Abstract][Full Text] [Related]
9. The dimerization domain in outer segment guanylate cyclase is a Ca²⁺-sensitive control switch module. Zägel P; Dell'Orco D; Koch KW Biochemistry; 2013 Jul; 52(30):5065-74. PubMed ID: 23815670 [TBL] [Abstract][Full Text] [Related]
10. GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress. Plana-Bonamaisó A; López-Begines S; Andilla J; Fidalgo MJ; Loza-Alvarez P; Estanyol JM; Villa P; Méndez A Cell Death Dis; 2020 Jan; 11(1):62. PubMed ID: 31980596 [TBL] [Abstract][Full Text] [Related]
11. The Transition of Photoreceptor Guanylate Cyclase Type 1 to the Active State. Shahu MK; Schuhmann F; Scholten A; Solov'yov IA; Koch KW Int J Mol Sci; 2022 Apr; 23(7):. PubMed ID: 35409388 [TBL] [Abstract][Full Text] [Related]
12. Variants at codon 838 in the Sun Z; Wu S; Zhu T; Li H; Wei X; Du H; Sui R Ophthalmic Genet; 2020 Dec; 41(6):548-555. PubMed ID: 32811265 [TBL] [Abstract][Full Text] [Related]
13. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Jacobson SG; Cideciyan AV; Peshenko IV; Sumaroka A; Olshevskaya EV; Cao L; Schwartz SB; Roman AJ; Olivares MB; Sadigh S; Yau KW; Heon E; Stone EM; Dizhoor AM Hum Mol Genet; 2013 Jan; 22(1):168-83. PubMed ID: 23035049 [TBL] [Abstract][Full Text] [Related]
14. GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. Sato S; Peshenko IV; Olshevskaya EV; Kefalov VJ; Dizhoor AM J Neurosci; 2018 Mar; 38(12):2990-3000. PubMed ID: 29440533 [TBL] [Abstract][Full Text] [Related]
15. Impairment of the rod outer segment membrane guanylate cyclase dimerization in a cone-rod dystrophy results in defective calcium signaling. Duda T; Venkataraman V; Jankowska A; Lange C; Koch KW; Sharma RK Biochemistry; 2000 Oct; 39(41):12522-33. PubMed ID: 11027131 [TBL] [Abstract][Full Text] [Related]
16. Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. Yi Z; Sun W; Xiao X; Li S; Jia X; Li X; Yu B; Wang P; Zhang Q Exp Eye Res; 2021 Jul; 208():108637. PubMed ID: 34048777 [TBL] [Abstract][Full Text] [Related]
17. 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; 2010 Dec; 107(49):21158-63. PubMed ID: 21078983 [TBL] [Abstract][Full Text] [Related]
18. Guanylate cyclases and associated activator proteins in retinal disease. Hunt DM; Buch P; Michaelides M Mol Cell Biochem; 2010 Jan; 334(1-2):157-68. PubMed ID: 19941038 [TBL] [Abstract][Full Text] [Related]
19. Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. Molday LL; Jefferies T; Molday RS Front Mol Neurosci; 2014; 7():44. PubMed ID: 24904271 [TBL] [Abstract][Full Text] [Related]