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Select item 104040301.

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants

Jiawen Wu, Zhongmou Sun, Dao wei Zhang, Hong-Li Liu, Ting Li, Shenghai Zhang, Jihong Wu

PeerJ. 2023; 11: e15702. Published online 2023 Aug 2. doi: 10.7717/peerj.15702

PMCID:: PMC10404030

Abstract Article PDF–6.9M

Select item 101511742.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee

Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim, Suk Ho Byeon, on behalf of the Korea RPE65-IRD Consensus Paper Committee

Korean J Ophthalmol. 2023 Apr; 37(2): 166–186. Published online 2023 Mar 23. doi: 10.3341/kjo.2023.0008

PMCID:: PMC10151174

Abstract Article PDF–3.3M

Select item 96886073.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto

Cells. 2022 Nov; 11(22): 3640. Published online 2022 Nov 17. doi: 10.3390/cells11223640

PMCID:: PMC9688607

Abstract Article PDF–3.4M

Select item 94219384.

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

Neslihan Sinim Kahraman, Ayşe Öner, Yusuf Özkul, Munis Dündar

Turk J Ophthalmol. 2022 Aug; 52(4): 270–275. Published online 2022 Aug 25. doi: 10.4274/tjo.galenos.2021.74944

PMCID:: PMC9421938

Abstract Article PDF–706K

Select item 92257915.

Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations

Giulio Poli, Ivana Barravecchia, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi

J Enzyme Inhib Med Chem. 2022; 37(1): 1765–1772. Published online 2022 Jun 21. doi: 10.1080/14756366.2022.2090547

PMCID:: PMC9225791

Abstract Article PDF–2.2M

Select item 89181616.

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review

Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato, M. Dominik Fischer

Adv Ther. 2022; 39(3): 1179–1198. Published online 2022 Jan 30. doi: 10.1007/s12325-021-02036-7

PMCID:: PMC8918161

Abstract Article PDF–1.1M

Select item 88223667.

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

Francesco Testa, Vittoria Murro, Sabrina Signorini, Leonardo Colombo, Giancarlo Iarossi, Francesco Parmeggiani, Benedetto Falsini, Anna Paola Salvetti, Raffaella Brunetti-Pierri, Giorgia Aprile, Chiara Bertone, Agnese Suppiej, Francesco Romano, Marianthi Karali, Simone Donati, Paolo Melillo, Andrea Sodi, Luciano Quaranta, Luca Rossetti, Luca Buzzonetti, Marzio Chizzolini, Stanislao Rizzo, Giovanni Staurenghi, Sandro Banfi, Claudio Azzolini, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2022 Feb; 63(2): 13. Published online 2022 Feb 7. doi: 10.1167/iovs.63.2.13

PMCID:: PMC8822366

Abstract Article PDF–2.2M

Select item 84976358.

Perifoveal Chorioretinal Atrophy following Subretinal Voretigene Neparvovec-rzyl for RPE65-mediated Leber Congenital Amaurosis

William S. Gange, Robert A. Sisk, Cagri G. Besirli, Thomas C. Lee, Margaret Havunjian, Hillary Schwartz, Mark Borchert, Jesse D. Sengillo, Carlos Mendoza, Audina M. Berrocal, Aaron Nagiel

Ophthalmol Retina. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Ophthalmol Retina. 2022 Jan; 6(1): 58–64. Published online 2021 Apr 8. doi: 10.1016/j.oret.2021.03.016

PMCID:: PMC8497635

Abstract Article PDF–777K

Select item 83921139.

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations

Chu-Hsuan Huang, Chung-May Yang, Chang-Hao Yang, Yu-Chih Hou, Ta-Ching Chen

Genes (Basel) 2021 Aug; 12(8): 1261. Published online 2021 Aug 19. doi: 10.3390/genes12081261

PMCID:: PMC8392113

Abstract Article PDF–325K

Select item 826866810.

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi

Int J Mol Sci. 2021 Jul; 22(13): 7207. Published online 2021 Jul 5. doi: 10.3390/ijms22137207

PMCID:: PMC8268668

Abstract Article PDF–646K

Select item 809779911.

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

Feng-Juan Gao, Dan-Dan Wang, Jian-Kang Li, Fang-Yuan Hu, Ping Xu, Fang Chen, Yu-He Qi, Wei Liu, Wei Li, Sheng-Hai Zhang, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu

Orphanet J Rare Dis. 2021; 16: 174. Published online 2021 Apr 13. doi: 10.1186/s13023-021-01807-3

PMCID:: PMC8097799

Abstract Article PDF–2.1M

Select item 776059312.

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

Anna-Sophia Kiang, Paul F. Kenna, Marian M. Humphries, Ema Ozaki, Robert K. Koenekoop, Matthew Campbell, G. Jane Farrar, Pete Humphries

Genes (Basel) 2020 Dec; 11(12): 1420. Published online 2020 Nov 27. doi: 10.3390/genes11121420

PMCID:: PMC7760593

Abstract Article PDF–8.4M

Select item 720578013.

Late presentation of RPE65 retinopathy in three siblings

Moustafa Magliyah, Amjad Ameen Saifaldein, Patrik Schatz

Doc Ophthalmol. 2020; 140(3): 289–297. Published online 2020 Jan 10. doi: 10.1007/s10633-019-09745-z

PMCID:: PMC7205780

Abstract Article PDF–1.1M

Select item 707915614.

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China

Shiqiang Li, Xueshan Xiao, Zhen Yi, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Acta Ophthalmol. 2020 Mar; 98(2): e181–e190. Published online 2019 Jul 5. doi: 10.1111/aos.14181

PMCID:: PMC7079156

Abstract Article PDF–2.5M

Select item 701665515.

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Fabiana L. Motta, Renan P. Martin, Fernanda B. O. Porto, Elizabeth S. Wohler, Rosane G. Resende, Caio P. Gomes, João B. Pesquero, Juliana M. F. Sallum

Genes (Basel) 2020 Jan; 11(1): 24. Published online 2019 Dec 24. doi: 10.3390/genes11010024

PMCID:: PMC7016655

Abstract Article PDF–832K

Select item 699651916.

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65

Ruben Jauregui, Ahra Cho, Jin Kyun Oh, Akemi J. Tanaka, Janet R. Sparrow, Stephen H. Tsang

Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a004952. doi: 10.1101/mcs.a004952

PMCID:: PMC6996519

Abstract Article PDF–6.8M

Select item 677723417.

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy

Unikora Yang, Susan Gentleman, Xiaowu Gai, Michael B. Gorin, Mark S. Borchert, Thomas C. Lee, Adda Villanueva, Robert Koenekoop, Albert M. Maguire, Jean Bennett, T. Michael Redmond, Aaron Nagiel

JAMA Ophthalmol. 2019 Dec; 137(12): 1381–1388. Published online 2019 Oct 3. doi: 10.1001/jamaophthalmol.2019.3914

PMCID:: PMC6777234

Abstract Article

Select item 644596918.

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

DANIEL C. CHUNG, METTE BERTELSEN, BIRGIT LORENZ, MARK E. PENNESI, BART P. LEROY, CHRISTIAN P. HAMEL, ERIC PIERCE, JULIANA SALLUM, MICHAEL LARSEN, KNUT STIEGER, MARKUS PREISING, RICHARD WELEBER, PAUL YANG, EMILY PLACE, EMILY LIU, GRACE SCHAEFER, JULIE DISTEFANO-PAPPAS, OKAN U. ELCI, SARAH MCCAGUE, JENNIFER A. WELLMAN, KATHERINE A. HIGH, KATHLEEN Z. REAPE

Am J Ophthalmol. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Am J Ophthalmol. 2019 Mar; 199: 58–70. Published online 2018 Sep 28. doi: 10.1016/j.ajo.2018.09.024

PMCID:: PMC6445969

Abstract Article PDF–1.4M

Select item 644135819.

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

Zilin Zhong, Feng Rong, Yinghui Dai, Alakezi Yibulayin, Lin Zeng, Jian Liao, Liefeng Wang, Zhihua Huang, Zhenping Zhou, Jianjun Chen

Mol Vis. 2019; 25: 204–214. Published online 2019 Mar 18.

PMCID:: PMC6441358

Abstract Article PDF–2.8M

Select item 631418920.

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa

Ruben Jauregui, Karen Sophia Park, Stephen H. Tsang

Ophthalmic Genet. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Ophthalmic Genet. 2018 Aug; 39(4): 544–549. doi: 10.1080/13816810.2018.1484929

PMCID:: PMC6314189

Abstract Article PDF–1.8M

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