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Select item 106381501.

A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy

Amanda J. Scopelliti, Robyn V. Jamieson, Elizabeth H. Barnes, Benjamin Nash, Sulekha Rajagopalan, Elisa L. Cornish, John R. Grigg

Doc Ophthalmol. 2023; 147(3): 189–201. Published online 2023 Sep 29. doi: 10.1007/s10633-023-09954-7

PMCID:: PMC10638150

Abstract Article PDF–1.7M

Select item 103972962.

Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred

Yunxia Gao, Xiang Ren, Hong Lin, Kang Li, Lirong Xiao, Xiaoyue Wang, Zhibing Zeng, Ruijin Ran, Yunhan Tao, Yu Lin, Xiangyu Fu, Naihong Yan, Ming Zhang

Eye (Lond) 2023 Aug; 37(12): 2461–2469. Published online 2022 Dec 12. doi: 10.1038/s41433-022-02355-1

PMCID:: PMC10397296

Abstract Article PDF–2.6M

Select item 97338593.

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

Luigi Donato, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Angela Dascola, Alessandro Calamuneri, Rosalia D’Angelo, Antonina Sidoti

PLoS One. 2022; 17(12): e0278857. Published online 2022 Dec 9. doi: 10.1371/journal.pone.0278857

PMCID:: PMC9733859

Abstract Article PDF–3.5M

Select item 85172124.

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase

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

J Biol Chem. 2021 Oct; 297(4): 101201. Published online 2021 Sep 16. doi: 10.1016/j.jbc.2021.101201

PMCID:: PMC8517212

Abstract Article PDF–4.7M

Select item 81650305.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 79394556.

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness

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

J Biol Chem. 2020 Dec 25; 295(52): 18301–18315. Published online 2021 Jan 13. doi: 10.1074/jbc.RA120.015553

PMCID:: PMC7939455

Abstract Article PDF–4.9M

Select item 79226867.

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function

Samuel G. Jacobson, Artur V. Cideciyan, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Malgorzata Swider, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo

Int J Mol Sci. 2021 Feb; 22(4): 2031. Published online 2021 Feb 18. doi: 10.3390/ijms22042031

PMCID:: PMC7922686

Abstract Article PDF–3.9M

Select item 75186048.

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases

Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M. Ahmed

PLoS One. 2020; 15(9): e0239748. Published online 2020 Sep 25. doi: 10.1371/journal.pone.0239748

PMCID:: PMC7518604

Abstract Article PDF–1.0M

Select item 73970949.

Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase

Igor V. Peshenko, Alexander M. Dizhoor

J Biol Chem. 2020 Jul 31; 295(31): 10781–10793. Published online 2020 Jun 3. doi: 10.1074/jbc.RA120.013789

PMCID:: PMC7397094

Abstract Article PDF–2.7M

Select item 713829610.

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye

PLoS One. 2020; 15(4): e0231115. Published online 2020 Apr 7. doi: 10.1371/journal.pone.0231115

PMCID:: PMC7138296

Abstract Article PDF–1.3M

Select item 641644211.

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

PMCID:: PMC6416442

Abstract Article PDF–3.0M

Select item 616759112.

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca²⁺-Dependent Cyclic GMP Synthesis

Hanna Wimberg, Dorit Lev, Keren Yosovich, Prasanthi Namburi, Eyal Banin, Dror Sharon, Karl-Wilhelm Koch

Front Mol Neurosci. 2018; 11: 348. Published online 2018 Sep 25. doi: 10.3389/fnmol.2018.00348

PMCID:: PMC6167591

Abstract Article PDF–2.7M

Select item 586414813.

GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1

Shinya Sato, Igor V. Peshenko, Elena V. Olshevskaya, Vladimir J. Kefalov, Alexander M. Dizhoor

J Neurosci. 2018 Mar 21; 38(12): 2990–3000. doi: 10.1523/JNEUROSCI.2985-17.2018

PMCID:: PMC5864148

Abstract Article PDF–2.8M

Select item 535879914.

Mutation Analysis Identifies GUCY2D as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

Veronique B. D. Kitiratschky, Robert Wilke, Agnes B. Renner, Ulrich Kellner, Maria Vadalà, David G. Birch, Bernd Wissinger, Eberhart Zrenner, Susanne Kohl

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2017 Mar 20.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2008 Nov; 49(11): 5015–5023. Published online 2008 May 16. doi: 10.1167/iovs.08-1901

PMCID:: PMC5358799

Abstract Article PDF–745K

Select item 530876915.

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

Geoffrey K. Aguirre, Omar H. Butt, Ritobrato Datta, Alejandro J. Roman, Alexander Sumaroka, Sharon B. Schwartz, Artur V. Cideciyan, Samuel G. Jacobson

Invest Ophthalmol Vis Sci. 2017 Feb; 58(2): 959–973. doi: 10.1167/iovs.16-20413

PMCID:: PMC5308769

Abstract Article PDF–3.8M

Select item 499890016.

GC Gene Polymorphism and Unbound Serum Retinol-Binding Protein 4 Are Related to the Risk of Insulin Resistance in Patients With Chronic Hepatitis C: A Prospective Cross-Sectional Study

Beatriz Mateos-Muñoz, Elena García-Martín, María J. Torrejón, María J. Devesa-Medina, Gara Esguevillas, María C. Cárdenas, Cristina Fernández, Miguel Carballo, José A. Agúndez, José M. Ladero

Medicine (Baltimore) 2016 Mar; 95(10): e3019. Published online 2016 Mar 11. doi: 10.1097/MD.0000000000003019

PMCID:: PMC4998900

Abstract Article PDF–254K

Select item 496731717.

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Libe Gradstein, Jenny Zolotushko, Yuri V. Sergeev, Itay Lavy, Ginat Narkis, Yonatan Perez, Sarah Guigui, Dror Sharon, Eyal Banin, Eyal Walter, Tova Lifshitz, Ohad S. Birk

BMC Med Genet. 2016; 17: 52. Published online 2016 Jul 30. doi: 10.1186/s12881-016-0314-2

PMCID:: PMC4967317

Abstract Article PDF–1.5M

Select item 481347118.

Structure of Guanylyl Cyclase Activator Protein 1 (GCAP1) Mutant V77E in a Ca²⁺-free/Mg²⁺-bound Activator State

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

J Biol Chem. 2016 Feb 26; 291(9): 4429–4441. Published online 2015 Dec 24. doi: 10.1074/jbc.M115.696161

PMCID:: PMC4813471

Abstract Article PDF–3.1M

Select item 475989319.

Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy

Leen Abu Safieh, Humoud M. Al-Otaibi, Richard Alan Lewis, Igor Kozak

Middle East Afr J Ophthalmol. 2016 Jan-Mar; 23(1): 139–141. doi: 10.4103/0974-9233.171779

PMCID:: PMC4759893

Abstract Article

Select item 467355520.

The guanylate cyclase-C signaling pathway is down-regulated in inflammatory bowel disease

Øystein Brenna, Torunn Bruland, Marianne W. Furnes, Atle van Beelen Granlund, Ignat Drozdov, Johanna Emgård, Gunnar Brønstad, Mark Kidd, Arne K. Sandvik, Björn I. Gustafsson

Scand J Gastroenterol. 2015 Oct 3; 50(10): 1241–1252. Published online 2015 May 15. doi: 10.3109/00365521.2015.1038849

PMCID:: PMC4673555

Abstract Article PDF–822K

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