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Select item 85094141.

A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase

Amedeo Biasi, Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Antonio Mattia Modarelli, Matteo Bertelli, Leonardo Colombo, Daniele Dell’Orco

Int J Mol Sci. 2021 Oct; 22(19): 10809. Published online 2021 Oct 6. doi: 10.3390/ijms221910809

PMCID:: PMC8509414

Abstract Article PDF–5.2M

Select item 80707922.

Impaired Ca²⁺ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells

Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Giorgio Placidi, Elisa De Siena, Benedetto Falsini, Matteo Bertelli, Daniele Dell’Orco

Int J Mol Sci. 2021 Apr; 22(8): 4030. Published online 2021 Apr 14. doi: 10.3390/ijms22084030

PMCID:: PMC8070792

Abstract Article PDF–4.5M

Select item 76004253.

Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca²⁺ or Mg²⁺: Hints to Understand Protein Activity

Francesco Bonì, Valerio Marino, Carlo Bidoia, Eloise Mastrangelo, Alberto Barbiroli, Daniele Dell’Orco, Mario Milani

Biomolecules. 2020 Oct; 10(10): 1408. Published online 2020 Oct 5. doi: 10.3390/biom10101408

PMCID:: PMC7600425

Abstract Article PDF–2.8M

Select item 70374594.

Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to “Locking” Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition

Seher Abbas, Valerio Marino, Laura Bielefeld, Karl-Wilhelm Koch, Daniele Dell’Orco

Int J Mol Sci. 2020 Feb; 21(3): 752. Published online 2020 Jan 23. doi: 10.3390/ijms21030752

PMCID:: PMC7037459

Abstract Article PDF–5.2M

Select item 69824295.

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD

Suzhen Tang, Yujun Xia, Yunhai Dai, Yaning Liu, Jingshuo Li, Xiaojing Pan, Peng Chen

Mol Vis. 2019; 25: 921–xxx. Published online 2019 Dec 31.

PMCID:: PMC6982429

Abstract Article PDF–4.8M

Select item 69348686.

Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A

Daniele Dell’Orco, Giuditta Dal Cortivo

Sci Rep. 2019; 9: 20105. Published online 2019 Dec 27. doi: 10.1038/s41598-019-56606-5

PMCID:: PMC6934868

Abstract Article PDF–2.4M

Select item 68561917.

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

Kei Mizobuchi, Takaaki Hayashi, Satoshi Katagiri, Kazutoshi Yoshitake, Kaoru Fujinami, Lizhu Yang, Kazuki Kuniyoshi, Kei Shinoda, Shigeki Machida, Mineo Kondo, Shinji Ueno, Hiroko Terasaki, Tomokazu Matsuura, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano

Sci Rep. 2019; 9: 16851. Published online 2019 Nov 14. doi: 10.1038/s41598-019-52660-1

PMCID:: PMC6856191

Abstract Article PDF–3.0M

Select item 50643198.

Allosteric communication pathways routed by Ca²⁺/Mg²⁺ exchange in GCAP1 selectively switch target regulation modes

Valerio Marino, Daniele Dell’Orco

Sci Rep. 2016; 6: 34277. Published online 2016 Oct 14. doi: 10.1038/srep34277

PMCID:: PMC5064319

Abstract Article PDF–2.3M

Select item 39749849.

Identification of Target Binding Site in Photoreceptor Guanylyl Cyclase-activating Protein 1 (GCAP1)

Igor V. Peshenko, Elena V. Olshevskaya, Sunghyuk Lim, James B. Ames, Alexander M. Dizhoor

J Biol Chem. 2014 Apr 4; 289(14): 10140–10154. Published online 2014 Feb 24. doi: 10.1074/jbc.M113.540716

PMCID:: PMC3974984

Abstract Article PDF–4.6M

Select item 397416410.

Disease Progression in Autosomal Dominant Cone-Rod Dystrophy Caused by a Novel Mutation (D100G) in the GUCA1A Gene

Eva Nong, Winston Lee, Joanna E. Merriam, Rando Allikmets, Stephen H. Tsang

Doc Ophthalmol. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Doc Ophthalmol. 2014 Feb; 128(1): 59–67. Published online 2013 Dec 19. doi: 10.1007/s10633-013-9420-z

PMCID:: PMC3974164

Abstract Article PDF–1.8M

Select item 375925511.

Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

Kunka Kamenarova, Marta Corton, Blanca García-Sandoval, Patricia Fernández-San Jose, Valentin Panchev, Almudena Ávila-Fernández, Maria Isabel López-Molina, Christina Chakarova, Carmen Ayuso, Shomi S. Bhattacharya

Biomed Res Int. 2013; 2013: 517570. Published online 2013 Aug 14. doi: 10.1155/2013/517570

PMCID:: PMC3759255

Abstract Article PDF–4.7M

Select item 285778012.

GCAP1 mutations associated with autosomal dominant cone dystrophy

Li Jiang, Wolfgang Baehr

Adv Exp Med Biol. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Adv Exp Med Biol. 2010; 664: 273–282. doi: 10.1007/978-1-4419-1399-9_31

PMCID:: PMC2857780

Abstract Article PDF–1.5M

Select item 538933913.

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations

Gaël Manes, Sonia Mamouni, Emilie Hérald, Anne-Claire Richard, Audrey Sénéchal, Karim Aouad, Béatrice Bocquet, Isabelle Meunier, Christian P. Hamel

Mol Vis. 2017; 23: 198–209. Published online 2017 Apr 3.

PMCID:: PMC5389339

Abstract Article PDF–2.7M

Select item 249077614.

Binding of Guanylyl Cyclase Activating Protein 1 (GCAP1) to Retinal Guanylyl Cyclase (RetGC1): THE ROLE OF INDIVIDUAL EF-HANDS

Igor V. Peshenko, Elena V. Olshevskaya, Alexander M. Dizhoor

J Biol Chem. 2008 Aug 1; 283(31): 21747–21757. doi: 10.1074/jbc.M801899200

PMCID:: PMC2490776

Abstract Article PDF–740K

Select item 135231315.

A Novel GCAP1 Missense Mutation (L151F) in a Large Family with Autosomal Dominant Cone-Rod Dystrophy (adCORD)

Izabela Sokal, William J. Dupps, Michael A. Grassi, Jeremiah Brown, Jr, Louisa M. Affatigato, Nirmalya Roychowdhury, Lili Yang, Slawomir Filipek, Krzysztof Palczewski, Edwin M. Stone, Wolfgang Baehr

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2006 Jan 27.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2005 Apr; 46(4): 1124–1132. doi: 10.1167/iovs.04-1431

PMCID:: PMC1352313

Abstract Article PDF–802K

Select item 123547816.

Identification and Functional Consequences of a New Mutation (E155G) in the Gene for GCAP1 That Causes Autosomal Dominant Cone Dystrophy

Susan E. Wilkie, Yang Li, Evelyne C. Deery, Richard J. Newbold, Daniel Garibaldi, J. Bronwyn Bateman, Heidi Zhang, Wei Lin, Donald J. Zack, Shomi S. Bhattacharya, Martin J. Warren, David M. Hunt, Kang Zhang

Am J Hum Genet. 2001 Sep; 69(3): 471–480. Published online 2001 Jul 31. doi: 10.1086/323265

PMCID:: PMC1235478

Abstract Article PDF–399K

Select item 641644217.

A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration

Igor V. Peshenko, Artur V. Cideciyan, Alexander Sumaroka, Elena V. Olshevskaya, Alexander Scholten, Seher Abbas, Karl-Wilhelm Koch, Samuel G. Jacobson, Alexander M. Dizhoor

J Biol Chem. 2019 Mar 8; 294(10): 3476–3488. Published online 2019 Jan 8. doi: 10.1074/jbc.RA118.006180