المؤلفون: Montaser, Ahmed, Gao, Fangyuan, Peters, Danielle, Vainionpää, Katri, Zhibin, Ning, Skowronska-Krawczyk, Dorota, Figeys, Daniel, Palczewski, Krzysztof, Leinonen, Henri

المصدر: Molecular & Cellular Proteomics. 23(11)

مصطلحات موضوعية: P23H, Rpe65(−/−), inherited retinal degenerations, rd10, retinal degeneration, retinal proteome, retinitis pigmentosa, Animals, Retinitis Pigmentosa, Disease Models, Animal, Proteome, Mice, Retina, Retinal Degeneration, Cyclic Nucleotide Phosphodiesterases, Type 6, Proteomics, Eye Proteins, Mice, Inbred C57BL, Leber Congenital Amaurosis, cis-trans-Isomerases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5qt534x8
https://escholarship.org/content/qt5qt534x8/qt5qt534x8.pdf

المؤلفون: Ku, Cristy A, Igelman, Austin D, Huang, Samuel J, Bailey, Steven T, Lauer, Andreas K, Duncan, Jacque L, Weleber, Richard G, Yang, Paul, Pennesi, Mark E

المصدر: Translational Vision Science & Technology. 13(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Gene Therapy, Clinical Trials and Supportive Activities, Eye Disease and Disorders of Vision, Genetics, Neurosciences, Clinical Research, Biotechnology, Rare Diseases, Eye, Humans, Retrospective Studies, Genetic Vectors, Genetic Therapy, Male, Female, Child, Visual Acuity, Tomography, Optical Coherence, cis-trans-Isomerases, Dependovirus, Atrophy, Visual Fields, voretigene, chorioretinal atrophy, gene therapy, RPE65, inherited retinal disease, Biomedical Engineering, Opthalmology and Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9jv8k0mn
https://escholarship.org/content/qt9jv8k0mn/qt9jv8k0mn.pdf

المؤلفون: Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

المصدر: Molecular Genetics & Genomic Medicine, Vol 13, Iss 1, Pp n/a-n/a (2025)

مصطلحات موضوعية: exome sequencing, gene therapy, Leber congenital amaurosis, RPE65, uniparental Isodisomy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/af10e99042fe4888b7a15d8b5e95c936

المؤلفون: Seyed Mohamadmehdi Moshtaghion, Mohammad Abolhosseini, Faraj Tabeie, Sahar Balagholi, Fatemeh Suri, Samira Karami, Houra Naraghi, Mozhgan Rezaei Kanavi, Somayeh Asadi

المصدر: Journal of Ophthalmic & Vision Research, Vol 19, Iss 2, Pp 183-195 (2024)

مصطلحات موضوعية: alpha-smooth muscle actin, human retinal pigment epithelial cells, low-level laser, pax6, photobiomodulation, rpe65, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2008-2010; https://doaj.org/toc/2008-322X

URL الوصول: https://doaj.org/article/b98abc27810743598b9d667ba7c0f4e7

المؤلفون: Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Raquel Romero, Lidia Fernández-Caballero, Pablo Mínguez, Marta Corton, Carmen Ayuso

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: RPE65 gene, Leber congenital amaurosis, nanopore sequencing, CRISPR, retinitis pigmentosa, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1439153/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/791cb32b50f64a6aa9f0167ca22f69a8

المؤلفون: Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: inherited retinal dystrophy, Leber congenital amaurosis, electroretinography, RPE65 gene mutation, whole exome sequencing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1442107/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/0140d53651fb47e9808b8b5d93959952

المؤلفون: V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, Yu. A. Bobrovskaya

المصدر: Российский офтальмологический журнал, Vol 16, Iss 4, Pp 50-62 (2023)

مصطلحات موضوعية: inherited retinal dystrophies, gene therapy, rpe65, voretigen neparvovec, luxturna, leber congenital amaurosis, retinitis pigmentosa, genetics, ophthalmology, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://roj.igb.ru/jour/article/view/1356; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760

URL الوصول: https://doaj.org/article/ad919c19fbe440018fc9394a33c70d4f

المؤلفون: Yanbo Liu, Jingjie Tai, Chaofeng Yu, Dan Xu, Dan Xiao, Jijing Pang

المصدر: Frontiers in Medicine, Vol 10 (2024)

مصطلحات موضوعية: gene replacement therapy, anti-apoptosis therapy, rd12 mice, RPE65, Bcl-2L10, AAV, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1291795/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/326596c217744fc7b154b672df4f3f5b

المؤلفون: Andreazzoli, Massimiliano, Longoni, Biancamaria, Angeloni, Debora, Demontis, Gian Carlo

المساهمون: Andreazzoli, Massimiliano, Longoni, Biancamaria, Angeloni, Debora, Demontis, Gian Carlo

مصطلحات موضوعية: 11cis retinaldehyde, 9cis retinaldehyde, Müller glial cell, RPE, RPE65, cone photoreceptor, retinal dystrophie, retinoic acid, rod photoreceptor, vision

Relation: volume:13; issue:10; numberofpages:34; journal:CELLS; https://hdl.handle.net/11382/573454

الاتاحة: https://hdl.handle.net/11382/573454
https://doi.org/10.3390/cells13100871

المؤلفون: M. Dominik Fischer, Francesca Simonelli, Jayashree Sahni, Frank G. Holz, Rainer Maier, Christina Fasser, Andrea Suhner, Daniel P. Stiehl, Bee Chen, Isabelle Audo, Bart P. Leroy

المصدر: Biomolecules, Vol 14, Iss 1, p 122 (2024)

مصطلحات موضوعية: effectiveness, real world, RPE65 -associated inherited retinal dystrophies, safety, voretigene neparvovec, Microbiology, QR1-502

Relation: https://www.mdpi.com/2218-273X/14/1/122; https://doaj.org/toc/2218-273X; https://doaj.org/article/34f82ed97596424b9cb2aab604475757

الاتاحة: https://doi.org/10.3390/biom14010122
https://doaj.org/article/34f82ed97596424b9cb2aab604475757

المؤلفون: Fabrizio Giansanti, Cristina Nicolosi, Dario Giorgio, Andrea Sodi, Dario Pasquale Mucciolo, Laura Pavese, Liliana Pollazzi, Gianni Virgili, Giulio Vicini, Ilaria Passerini, Elisabetta Pelo, Vittoria Murro

المصدر: Genes, Vol 15, Iss 7, p 879 (2024)

مصطلحات موضوعية: retinitis pigmentosa, voretigene neparvovec, macular hole, RPE65, gene therapy, complications, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/7/879; https://doaj.org/toc/2073-4425; https://doaj.org/article/f21a9e91f54046aa9c99fc07a09c9dbf

الاتاحة: https://doi.org/10.3390/genes15070879
https://doaj.org/article/f21a9e91f54046aa9c99fc07a09c9dbf

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

المصدر: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 38, Iss 1 (2023)

مصطلحات موضوعية: RPE65, variant of uncertain significance (VUS), molecular dynamics, missense mutations, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-6366; https://doaj.org/toc/1475-6374

URL الوصول: https://doaj.org/article/7c89f3b7f8fb4854b84bd0e0b60daf9f

المؤلفون: Kiser, Philip D, Palczewski, Krzysztof

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Neurodegenerative, Genetics, Neurosciences, Rare Diseases, Macular Degeneration, Eye, Animals, Humans, Isomerism, Retinal Cone Photoreceptor Cells, Retinal Pigments, Vertebrates, Vision, Ocular, cis-trans-Isomerases, G protein-coupled receptor, RGR, RPE65, eye, retina, retinoid cycle, rhodopsin, visual cycle, Chemical Sciences, Biological Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33m9h462
https://escholarship.org/content/qt33m9h462/qt33m9h462.pdf

المؤلفون: Blum, Eliav, Zhang, Jianye, Korshin, Edward, Palczewski, Krzysztof, Gruzman, Arie

المصدر: Bioorganic and Medicinal Chemistry Letters. 30(18)

مصطلحات موضوعية: (R)-MB001, (R)-emixustat, Fluorinated alkyles, RPE65 (Retinal pigment epithelium-specific 65 kDa protein, Retinal, Retinal degeneration, Alkanes, Enzyme Inhibitors, Halogenation, Humans, Isomerism, Models, Molecular, Molecular Conformation, Pharmaceutical Preparations, Phenyl Ethers, Propanolamines, Retina, Retinal Degeneration, Retinaldehyde, Structure-Activity Relationship, cis-trans-Isomerases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3wk111pb

المؤلفون: Daruwalla, Anahita, Zhang, Jianye, Lee, Ho Jun, Khadka, Nimesh, Farquhar, Erik R, Shi, Wuxian, von Lintig, Johannes, Kiser, Philip D

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 117(33)

مصطلحات موضوعية: Underpinning research, 1.1 Normal biological development and functioning, Archaea, Archaeal Proteins, Bacterial Proteins, Carotenoids, Catalysis, Catalytic Domain, Dioxygenases, Substrate Specificity, Synechocystis, beta-apo-14 '-carotenal, regioselectivity, RPE65, nonheme iron, apocarotenoid, β-apo-14′-carotenal

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7bc0p4j4

المؤلفون: Ward, Rebecca, Kaylor, Joanna J, Cobice, Diego F, Pepe, Dionissia A, McGarrigle, Eoghan M, Brockerhoff, Susan E, Hurley, James B, Travis, Gabriel H, Kennedy, Breandán N

المصدر: Journal of Biological Chemistry. 295(19)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Neurosciences, Eye, Animals, Carrier Proteins, Color Vision, Ependymoglial Cells, Fatty Acid Desaturases, Gene Deletion, Retinal Cone Photoreceptor Cells, Vitamin A, Zebrafish, cis-trans-Isomerases, vitamin A, vision, zebrafish, retina, pharmacology, chemical biology, cone-based visual behavior, Rpe65, visual cycle, Chemical Sciences, Biological Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences

URL الوصول: https://escholarship.org/uc/item/3cd793pr

المؤلفون: Thebeau, Christina, Zhang, Sheng, Kolesnikov, Alexander, Kefalov, Vladimir, Semenkovich, Clay, Rajagopal, Rithwick

مصطلحات موضوعية: Db/db, Diabetic retinopathy, Electroretinography, Gnat1, Light deprivation, Rpe65, Streptozotocin, transducin1, Animals, Diabetes Mellitus, Experimental, Diabetic Retinopathy, Disease Models, Animal, Light, Oxidative Stress, Retina, Streptozocin

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1ft8j9zn

المؤلفون: Dong Hyun Jo, Hyeon-Ki Jang, Chang Sik Cho, Jun Hee Han, Gahee Ryu, Youngri Jung, Sangsu Bae, Jeong Hun Kim

المصدر: Molecular Therapy: Nucleic Acids, Vol 31, Iss , Pp 16-27 (2023)

مصطلحات موضوعية: MT: RNA/DNA editing, base editing, CRISPR, Leber congenital amaurosis, RPE65, adeno-associated virus, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253122003134; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/0e40f671c79f40dd9e740725b178edd1

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

المصدر: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 37, Iss 1, Pp 1765-1772 (2022)

مصطلحات موضوعية: RPE65, variant of uncertain significance, molecular dynamics, missense mutations, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-6366; https://doaj.org/toc/1475-6374

URL الوصول: https://doaj.org/article/32ce20e5e4674bca8efb26b1a3d728b6

المؤلفون: Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: RPE65-associated IRD, RPE65, gnomAD, KRGDB, Carrier frequency, East Asian, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/aeea2561a700400e948a75439292538a