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Select item 69812711.

GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress

Anna Plana-Bonamaisó, Santiago López-Begines, Jordi Andilla, María José Fidalgo, Pablo Loza-Alvarez, Josep María Estanyol, Pedro de la Villa, Ana Méndez

Cell Death Dis. 2020 Jan; 11(1): 62. Published online 2020 Jan 24. doi: 10.1038/s41419-020-2255-0

PMCID:: PMC6981271

Abstract Article PDF–6.7M

Select item 30002752.

RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

Seifollah Azadi, Laurie L. Molday, Robert S. Molday

Proc Natl Acad Sci U S A. 2010 Dec 7; 107(49): 21158–21163. Published online 2010 Nov 15. doi: 10.1073/pnas.1010460107

PMCID:: PMC3000275

Abstract Article PDF–791K

Select item 35386993.

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I. den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P. M. Cremers, Roser Gonzalez-Duarte, Robert K. Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet

PLoS One. 2013; 8(1): e51622. Published online 2013 Jan 7. doi: 10.1371/journal.pone.0051622

PMCID:: PMC3538699

Abstract Article PDF–298K

Select item 33900074.

Mutations in RD3 Are Associated with an Extremely Rare and Severe Form of Early Onset Retinal Dystrophy

Markus N. Preising, Nora Hausotter-Will, Manuel C. Solbach, Christoph Friedburg, Franz Rüschendorf, Birgit Lorenz

Invest Ophthalmol Vis Sci. 2012 Jun; 53(7): 3463–3472. Published online 2012 Jun 8. doi: 10.1167/iovs.12-9519

PMCID:: PMC3390007

Abstract Article PDF–787K

Select item 32061805.

Retinal Degeneration 3 (RD3) Protein Inhibits Catalytic Activity of Retinal Membrane Guanylyl Cyclase (RetGC) and Its Stimulation by Activating Proteins

Igor V. Peshenko, Elena V. Olshevskaya, Seifollah Azadi, Laurie L. Molday, Robert S. Molday, Alexander M. Dizhoor

Biochemistry. Author manuscript; available in PMC 2012 Nov 8.

Published in final edited form as: Biochemistry. 2011 Nov 8; 50(44): 9511–9519. Published online 2011 Oct 11. doi: 10.1021/bi201342b

PMCID:: PMC3206180

Abstract Article PDF–2.2M

Select item 58263196.

Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3

Hanna Wimberg, Ulrike Janssen-Bienhold, Karl-Wilhelm Koch

Front Mol Neurosci. 2018; 11: 52. Published online 2018 Feb 21. doi: 10.3389/fnmol.2018.00052

PMCID:: PMC5826319

Abstract Article PDF–1.5M

Select item 43231527.

RD3: a challenge and a promise

Seifollah Azadi

JSM Biotechnol Biomed Eng. Author manuscript; available in PMC 2015 Feb 10.

Published in final edited form as: JSM Biotechnol Biomed Eng. 2013; 1(3): 1016. Published online 2013.

PMCID:: PMC4323152

Abstract Article PDF–109K

Select item 40333078.

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis

Laurie L. Molday, Thomas Jefferies, Robert S. Molday

Front Mol Neurosci. 2014; 7: 44. Published online 2014 May 26. doi: 10.3389/fnmol.2014.00044

PMCID:: PMC4033307

Abstract Article PDF–945K

Select item 102190059.

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

Int J Mol Sci. 2023 May; 24(10): 8915. Published online 2023 May 17. doi: 10.3390/ijms24108915

PMCID:: PMC10219005

Abstract Article PDF–5.1M

Select item 804798210.

Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling

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

J Biol Chem. 2021 Jan-Jun; 296: 100362. Published online 2021 Feb 2. doi: 10.1016/j.jbc.2021.100362

PMCID:: PMC8047982

Abstract Article PDF–2.2M

Select item 793945511.

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 510846012.

Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas

Sanford L. Boye, Elena V. Olshevskaya, Igor V. Peshenko, K. Tyler McCullough, Shannon E. Boye, Alexander M. Dizhoor

Mol Vis. 2016; 22: 1342–1351. Published online 2016 Nov 10.

PMCID:: PMC5108460

Abstract Article PDF–1.5M

Select item 431901613.

Impaired Association of Retinal Degeneration-3 with Guanylate Cyclase-1 and Guanylate Cyclase-activating Protein-1 Leads to Leber Congenital Amaurosis-1

Rahel Zulliger, Muna I. Naash, Raju V. S. Rajala, Robert S. Molday, Seifollah Azadi

J Biol Chem. 2015 Feb 6; 290(6): 3488–3499. Published online 2014 Dec 4. doi: 10.1074/jbc.M114.616656

PMCID:: PMC4319016

Abstract Article PDF–3.5M

Select item 391791714.

Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte

PLoS One. 2014; 9(2): e88410. Published online 2014 Feb 7. doi: 10.1371/journal.pone.0088410

Correction in:: PLoS One. 2014; 9(6): e101641.

PMCID:: PMC3917917

Abstract Article PDF–1.4M

Select item 376618315.

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12

Laurie L. Molday, Hidayat Djajadi, Paul Yan, Lukasz Szczygiel, Sanford L. Boye, Vince A. Chiodo, Kevin Gregory-Evans, Marinko V. Sarunic, William W. Hauswirth, Robert S. Molday

Hum Mol Genet. 2013 Oct 1; 22(19): 3894–3905. Published online 2013 Jun 4. doi: 10.1093/hmg/ddt244

PMCID:: PMC3766183

Abstract Article PDF–2.3M

Select item 367411216.

Three Year Follow-Up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Francesco Testa, Albert M Maguire, Settimio Rossi, Eric A Pierce, Paolo Melillo, Kathleen Marshall, Sandro Banfi, Enrico M. Surace, Junwei Sun, Carmela Acerra, J. Fraser Wright, Jennifer Wellman, Katherine A High, Alberto Auricchio, Jean Bennett, Francesca Simonelli

Ophthalmology. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Ophthalmology. 2013 Jun; 120(6): 1283–1291. Published online 2013 Mar 6. doi: 10.1016/j.ophtha.2012.11.048

PMCID:: PMC3674112

Abstract Article PDF–2.4M

Select item 336333517.

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis

Seo-Hee Cho, Jin Young Kim, David L. Simons, Ji Yun Song, Julie H. Le, Eric C. Swindell, Milan Jamrich, Samuel M. Wu, Seonhee Kim

Hum Mol Genet. 2012 Jun 15; 21(12): 2663–2676. Published online 2012 Mar 7. doi: 10.1093/hmg/dds091

PMCID:: PMC3363335

Abstract Article PDF–992K

Select item 269598718.

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

Yumei Li, Hui Wang, Jianlan Peng, Richard A. Gibbs, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Rui Chen

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Jun 14.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Mar; 50(3): 1336–1343. Published online 2008 Oct 20. doi: 10.1167/iovs.08-2589

PMCID:: PMC2695987

Abstract Article PDF–1016K

Select item 386840919.

Combined Rod and Cone Transduction by Adeno-Associated Virus 2/8

Anna Manfredi, Elena Marrocco, Agostina Puppo, Giulia Cesi, Andrea Sommella, Michele Della Corte, Settimio Rossi, Massimo Giunti, Cheryl M. Craft, Maria Laura Bacci, Francesca Simonelli, Enrico M. Surace, Alberto Auricchio

Hum Gene Ther. 2013 Dec 1; 24(12): 982–992. Published online 2013 Sep 25. doi: 10.1089/hum.2013.154

PMCID:: PMC3868409

Abstract Article PDF–1019K

Select item 365484420.

Changes in gene expression associated with retinal degeneration in the rd3 mouse

Christiana L. Cheng, Robert S. Molday

Mol Vis. 2013; 19: 955–969. Published online 2013 May 6.

PMCID:: PMC3654844

Abstract Article PDF–2.8M

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