RPE65 Gene Delivery Restores Isomerohydrolase Activity and Prevents Early Cone Loss in Rpe65−/−Mice

Gene therapy restores vision in a canine model of childhood blindness

Acland, G. M., Aguirre, G. D., Ray, J., Zhang, Q., Aleman, T. S., Cideciyan, A. V., Pearce-Kelling, S. E., Anand, V., Zeng, Y., Maguire, A. M., et al. (2001) · Nature Genetics · doi:10.1038/ng0501-92 · Cited by 1,202 · see citing works

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

Redmond., T. M., Yu, S., Lee, E., Bok, D., Hamasaki, D., Chen, N., Goletz, P., Ma, J.-X., Crouch, R. K., & Pfeifer, K. (1998) · Nature Genetics · doi:10.1038/3813 · Cited by 929 · see citing works

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Gu, S.-M., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-194 · Cited by 663 · see citing works

Mutations in RPE65 cause Leber's congenital amaurosis

Marlhens, F., Bareil, C., Griffoin, J.-M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.-Y., Harris, E., Redmond, T. M., Arnaud, B., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-139 · Cited by 606 · see citing works

RPE65 is the isomerohydrolase in the retinoid visual cycle

Moiseyev, G., Chen, Y., Takahashi, Y., Wu, B. X., & Ma, J.-X. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503460102 · Cited by 536 · see citing works

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Morimura, H., Fishman, G. A., Grover, S. A., Fulton, A. B., Berson, E. L., & Dryja, T. P. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.6.3088 · Cited by 481 · see citing works

Confronting Complexity: the Interlink of Phototransduction and Retinoid Metabolism in the Vertebrate Retina

McBee, J. K., Palczewski, K., Baehr, W., & Pepperberg, D. R. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(01)00002-7 · Cited by 366 · cited 1× · see citing works

How photons start vision.

Baylor, D. A. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.2.560 · Cited by 337 · see citing works

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson, D. A., Gyűrűs, P., Fleischer, L. L., Bingham, E. L., McHenry, C. L., Apfelstedt-Sylla, E., Zrenner, E., Lorenz, B., Richards, J. E., Jacobson, S. G., et al. (2000) · PubMed · Cited by 250 · see citing works

Specific binding of peanut lectin to a class of retinal photoreceptor cells. A species comparison.

Blanks, J. C., & Johnson, L. V. (1984) · PubMed · Cited by 235 · see citing works

In Utero Gene Therapy Rescues Vision in a Murine Model of Congenital Blindness

Dejneka, N. S., Surace, E. M., Alemán, T. S., Cideciyan, A. V., Lyubarsky, A., Savchenko, A., Redmond, T. M., Tang, W., Wei, Z., Rex, T. S., et al. (2004) · Molecular Therapy · doi:10.1016/j.ymthe.2003.11.013 · Cited by 197 · see citing works

The Biochemistry of the Visual Cycle

Rando, R. R. (2001) · Chemical Reviews · doi:10.1021/cr960141c · Cited by 163 · see citing works

Quantitative determination of retinals with complete retention of their geometric configuration

Groenendljk, G. W. T., Grip, W. J. D., & DAEMEN, F. J. M. (1980) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(80)90009-0 · Cited by 153 · see citing works

Downregulation of Cone-Specific Gene Expression and Degeneration of Cone Photoreceptors in the<i>Rpe65</i>^−/−Mouse at Early Ages

Znoiko, S. L., Rohrer, B., Lu, K., Lohr, H. R., Crouch, R. K., & Ma, J.-X. (2005) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.04-0653 · Cited by 146 · see citing works

Rpe65 Is a Retinyl Ester Binding Protein That Presents Insoluble Substrate to the Isomerase in Retinal Pigment Epithelial Cells

Mata, N. L., Moghrabi, W. N., Lee, J. S., Bui, T. V., Radu, R. A., Horwitz, J., & Travis, G. H. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m310042200 · Cited by 123 · see citing works

In Vivo Gene Therapy in Young and Adult RPE65-/- Dogs Produces Long-Term Visual Improvement

Narfström, K. L. (2003) · Journal of Heredity · doi:10.1093/jhered/esg015 · Cited by 120 · see citing works

Retinyl Esters Are the Substrate for Isomerohydrolase

Moiseyev, G., Crouch, R. K., Goletz, P., Oatis, Redmond, T. M., & Ma, J.-X. (2003) · Biochemistry · doi:10.1021/bi026911y · Cited by 116 · see citing works

Identification of the RPE65 protein in mammalian cone photoreceptors.

Znoiko, S. L., Crouch, R. K., Moiseyev, G. P., & Xing, J. (2002) · PubMed · Cited by 107 · see citing works

Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65 -/- knockout mouse eye results in limited rescue

Lai, C., Yu, M. J. T., Brankov, M., Barnett, N. L., Zhou, X., Redmond, T. M., Narfström, K. L., & Rakoczy, P. E. (2004) · Genetic Vaccines and Therapy · doi:10.1186/1479-0556-2-3 · Cited by 96 · see citing works

Membrane phospholipids as an energy source in the operation of the visual cycle

Rando, R. R. (1991) · Biochemistry · doi:10.1021/bi00217a001 · Cited by 86 · see citing works

RPE65 Operates in the Vertebrate Visual Cycle by Stereospecifically Binding All-trans-Retinyl Esters

Gollapalli, D. R., Maiti, P., & Rando, R. R. (2003) · Biochemistry · doi:10.1021/bi035227w · Cited by 73 · see citing works

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene

Marlhens, F., Griffoin, J., Bareil, C., Arnaud, B., Claustres, M., & Hamel, C. (1998) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200205 · Cited by 62 · see citing works

Expression, purification, and MALDI analysis of RPE65.

X., J., Zhang, J., Othersen, K. L., Moiseyev, G. P., Ablonczy, Z., Redmond, T. M., Chen, Y.-J., & Crouch, R. K. (2001) · PubMed · Cited by 58 · see citing works

Genetic defects in vitamin A metabolism of the retinal pigment epithelium

Thompson, D. A., & Gal, A. (2003) · Developments in Ophthalmology · doi:10.1159/000072044 · Cited by 47 · see citing works

Functional and Structural Evaluation after AAV.RPE65 Gene Transfer in the Canine Model of Leber’s Congenital Amaurosis

Narfström, K. L., Bragadóttir, R., Redmond, T. M., Rakoczy, P. E., Veen, T. V., & Bruun, A. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0067-4_54 · Cited by 46 · see citing works

MOLECULAR MECHANISMS IN VISUAL PIGMENT REGENERATION

Rando, R. R. (1992) · Photochemistry and Photobiology · doi:10.1111/j.1751-1097.1992.tb09739.x · Cited by 36 · see citing works

Gene Therapy for Leber Congenital Amaurosis

Dejneka, N. S., Surace, E. M., & Bennett, J. (2003) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-0067-4_53 · Cited by 32 · see citing works

Gene transfer in the RPE65 null mutation dog: relationship between construct volume, visual behavior and electroretinographic (ERG) results

Ford, M. M., Bragadóttir, R., Rakoczy, P. E., & Narfström, K. L. (2003) · Documenta Ophthalmologica · doi:10.1023/a:1024431827812 · Cited by 30 · see citing works

Identification of RPE65 in transformed kidney cells1

Ma, J.-X., Zhang, D., Laser, M., Brownlee, N. A., Re, G. G., Hazen‐Martin, D. J., Redmond, T. M., & Crouch, R. K. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)00606-7 · Cited by 27 · see citing works

Methods for Producing Recombinant Human Cellular Retinaldehyde-Binding Protein

Crabb, J. W., Chen, Y., Goldflam, S., West, K. A., & Kapron, J. T. (1998) · Humana Press eBooks · doi:10.1385/0-89603-438-0:91 · Cited by 27 · see citing works

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Cideciyan, A. V., Alemán, T. S., Boye, S. L., Schwartz, S., Kaushal, S., Román, A. J., Pang, J., Sumaroka, A., Windsor, E. A. M., Wilson, J. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807027105 · Cited by 674 · see citing works

Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years

Jacobson, S. G. (2012) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2011.298 · Cited by 639 · see citing works

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

Cideciyan, A. V., Jacobson, S. G., Beltran, W. A., Sumaroka, A., Świder, M., Iwabe, S., Román, A. J., Olivares, M. B., Schwartz, S., Komáromy, A. M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1218933110 · Cited by 441 · see citing works

Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives

Dias, M. F., Joo, K., Kemp, J. A., Fialho, S. L., Silva‐Cunha, A., Woo, S. J., & Kwon, Y. J. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.10.004 · Cited by 420 · see citing works

A comprehensive review of retinal gene therapy

Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262 · see citing works

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

Cideciyan, A. V. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.04.002 · Cited by 256 · see citing works

Pharmaceutical development of AAV-based gene therapy products for the eye

Rodrigues, G. A., Shalaev, E., Karami, T. K., Cunningham, J., Slater, N. K. H., & Rivers, H. M. (2019) · Pharmaceutical Research · doi:10.1007/s11095-018-2554-7 · Cited by 213 · see citing works

Efficient Non-Viral Ocular Gene Transfer with Compacted DNA Nanoparticles

Farjo, R., Skaggs, J., Quiambao, A. B., Cooper, M. J., & Naash, M. I. (2006) · PLoS ONE · doi:10.1371/journal.pone.0000038 · Cited by 208 · see citing works

Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy

Maguire, A. M., Bennett, J., Aleman, E. M., Leroy, B. P., & Alemán, T. S. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.11.029 · Cited by 183 · see citing works

Vector platforms for gene therapy of inherited retinopathies

Trapani, I., Puppo, A., & Auricchio, A. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.08.001 · Cited by 184 · see citing works

RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy

Cai, X., Conley, S. M., & Naash, M. I. (2009) · Ophthalmic Genetics · doi:10.1080/13816810802626399 · Cited by 162 · see citing works

Activation of the Wnt Pathway Plays a Pathogenic Role in Diabetic Retinopathy in Humans and Animal Models

Chen, Y., Hu, Y., Zhou, T., Zhou, K. K., Mott, R., Wu, M., Boulton, M. E., Lyons, T. J., Gao, G., & Ma, J. (2009) · American Journal Of Pathology · doi:10.2353/ajpath.2009.080945 · Cited by 159 · see citing works

Human cone photoreceptor dependence on RPE65 isomerase

Jacobson, S. G., Alemán, T. S., Cideciyan, A. V., Héon, E., Golczak, M., Beltran, W. A., Sumaroka, A., Schwartz, S., Román, A. J., Windsor, E. A. M., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0706367104 · Cited by 154 · see citing works

The Status ofRPE65Gene Therapy Trials: Safety and EfficacyPreprint

Pierce, E. A., & Bennett, J. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a017285 · Cited by 151 · see citing works

The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders

Bramall, A. N., Wright, A. F., Jacobson, S. G., & McInnes, R. R. (2010) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153227 · Cited by 148 · see citing works

Ischaemia-induced retinal neovascularisation and diabetic retinopathy in mice with conditional knockout of hypoxia-inducible factor-1 in retinal Müller cells

Lin, M., Chen, Y., Jin, J., Hu, Y., Zhou, K., Zhu, M., Le, Y.-Z., Ge, J., Johnson, R. S., & Ma, J. (2011) · Diabetologia · doi:10.1007/s00125-011-2081-0 · Cited by 138 · see citing works

Gene therapy and genome surgery in the retina

DiCarlo, J. E., Mahajan, V. B., & Tsang, S. H. (2018) · Journal of Clinical Investigation · doi:10.1172/jci120429 · Cited by 127 · see citing works

Nanoparticle-Assisted Targeted Delivery of Eye-Specific Genes to Eyes Significantly Improves the Vision of Blind Mice In Vivo

Rajala, A., Wang, Y., Zhu, Y., Ranjo‐Bishop, M., Ma, J., Mao, C., & Rajala, R. V. S. (2014) · Nano Letters · doi:10.1021/nl502275s · Cited by 118 · see citing works

Lentiviral Gene Transfer of Rpe65 Rescues Survival and Function of Cones in a Mouse Model of Leber Congenital Amaurosis

Bemelmans, A., Kostic, C., Crippa, S. V., Hauswirth, W. W., Lem, J., Munier, F. L., Seeliger, M. W., Wenzel, A., & Arsenijévic, Y. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030347 · Cited by 118 · see citing works

Animal Models of Retinal Disease

Fletcher, E. L., Jobling, A. I., Vessey, K. A., Luu, C. D., Guymer, R. H., & Baird, P. N. (2011) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-384878-9.00006-6 · Cited by 109 · see citing works

Very Low Density Lipoprotein Receptor, a Negative Regulator of the wnt Signaling Pathway and Choroidal Neovascularization

Chen, Y., Hu, Y., Lu, K., Flannery, J. G., & Ma, J. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m611289200 · Cited by 107 · see citing works

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal

Samardzija, M., Lintig, J. V., Tanimoto, N., Oberhauser, V., Thiersch, M., Remé, C. E., Seeliger, M. W., Grimm, C., & Wenzel, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm304 · Cited by 97 · see citing works

<i>Rpe65</i>^−/−and<i>Lrat</i>^−/−Mice: Comparable Models of Leber Congenital Amaurosis

Fan, J., Rohrer, B., Frederick, J. M., Baehr, W., & Crouch, R. K. (2008) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.08-1727 · Cited by 95 · see citing works

Lipid Nanoparticles for Ocular Gene Delivery

Wang, Y., Rajala, A., & Rajala, R. (2015) · Journal of Functional Biomaterials · doi:10.3390/jfb6020379 · Cited by 93 · see citing works

Treatment of ocular disorders by gene therapy

Solinís, M. Á., del Pozo-Rodríguez, A., Apaolaza, P. S., & Rodríguez-Gascón, A. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2014.12.022 · Cited by 88 · see citing works

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

Maeda, T., Cideciyan, A. V., Maeda, A., Golczak, M., Aleman, T. S., Jacobson, S. G., & Palczewski, K. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp163 · Cited by 83 · see citing works

CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes

Zhong, H., Chen, Y., Li, Y., Chen, R., & Mardon, G. (2015) · Scientific Reports · doi:10.1038/srep08366 · Cited by 81 · see citing works

S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA

Koirala, A., Makkia, R. S., Conley, S. M., Cooper, M. J., & Naash, M. I. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt013 · Cited by 75 · see citing works

Long-term Structural Outcomes of Late-stage RPE65 Gene Therapy

Gardiner, K. L., Cideciyan, A. V., Swider, M., Dufour, V. L., Sumaroka, A., Komáromy, A. M., Hauswirth, W. W., Iwabe, S., Jacobson, S. G., Beltran, W. A., et al. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2019.08.013 · Cited by 67 · see citing works

Hydroxyl PAMAM dendrimer-based gene vectors for transgene delivery to human retinal pigment epithelial cells

Mastorakos, P., Kambhampati, S. P., Mishra, M. K., Wu, T., Song, E., Hanes, J. S., & Kannan, R. M. (2014) · Nanoscale · doi:10.1039/c4nr04284k · Cited by 75 · see citing works

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency

Pang, J., Boye, S. L., Lei, B., Boye, S. L., Everhart, D., Ryals, R. C., Umino, Y., Rohrer, B., Alexander, J. J., Li, J., et al. (2010) · Gene Therapy · doi:10.1038/gt.2010.29 · Cited by 70 · see citing works

Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration

Ma, H., Thapa, A., Morris, L. M., Redmond, T. M., Baehr, W., & Ding, X. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1317041111 · Cited by 68 · see citing works

RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice

Wenzel, A., von Lintig, J., Oberhauser, V., Tanimoto, N., Grimm, C., & Seeliger, M. W. (2007) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.06-0652 · Cited by 66 · see citing works

Gene Therapy Rescues Cone Structure and Function in the 3-Month-Old rd12 Mouse: A Model for Midcourse RPE65 Leber Congenital Amaurosis

Li, X., Li, W., Dai, X., Kong, F., Zheng, Q., Zhou, X., Lü, F., Chang, B., Rohrer, B., Hauswirth, W. W., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6138 · Cited by 65 · see citing works

Impacts of Hypoxia-Inducible Factor-1 Knockout in the Retinal Pigment Epithelium on Choroidal Neovascularization

Lin, M., Hu, Y., Chen, Y., Zhou, K. K., Jin, J., Zhu, M., Le, Y.-Z., Ge, J., & Ma, J. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-8936 · Cited by 65 · see citing works

Nitrosative Stress Plays an Important Role in Wnt Pathway Activation in Diabetic Retinopathy

Liu, Q., Li, J., Cheng, R., Chen, Y., Lee, K., Hu, Y., Yi, J., Liu, Z., & Ma, J. (2012) · Antioxidants and Redox Signaling · doi:10.1089/ars.2012.4583 · Cited by 58 · see citing works

Immune responses to gene editing by viral and non-viral delivery vectors used in retinal gene therapy

Ren, D., Fisson, S., Dalkara, D., & Ail, D. (2022) · Pharmaceutics · doi:10.3390/pharmaceutics14091973 · Cited by 52 · see citing works

Non-viral therapeutic approaches to ocular diseases: An overview and future directions

Zulliger, R., Conley, S. M., & Naash, M. I. (2015) · Journal of Controlled Release · doi:10.1016/j.jconrel.2015.10.007 · Cited by 50 · see citing works

Gene Therapy of Inherited Retinopathies: A Long and Successful Road from Viral Vectors to Patients

Colella, P., & Auricchio, A. (2012) · Human Gene Therapy · doi:10.1089/hum.2012.123 · Cited by 50 · see citing works

Iris pigment epithelial cell transplantation for degenerative retinal diseases

Abe, T., YOSHIDA, M., YOSHIOKA, Y., Wakusawa, R., Tokita-Ishikawa, Y., Seto, H., Tamai, M., & Nishida, K. (2007) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2007.01.003 · Cited by 48 · see citing works

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death

Samardzija, M., Tanimoto, N., Kostic, C., Beck, S. C., Oberhauser, V., Joly, S., Thiersch, M., Fahl, E., Arsenijévic, Y., Lintig, J. V., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp026 · Cited by 48 · see citing works

Persistence of non-viral vector mediated RPE65 expression: Case for viability as a gene transfer therapy for RPE-based diseases

Koirala, A., Conley, S. M., Makkia, R., Liu, Z., Cooper, M. J., Sparrow, J. R., & Naash, M. I. (2013) · Journal of Controlled Release · doi:10.1016/j.jconrel.2013.08.299 · Cited by 47 · see citing works

Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis

Ku, C. A., Chiodo, V. A., Boye, S. L., Goldberg, A. F. X., Li, T., Hauswirth, W. W., & Ramamurthy, V. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr391 · Cited by 46 · see citing works

Gene delivery to the retina: focus on non-viral approaches

Naik, R. J., Mukhopadhyay, A., & Ganguli, M. (2008) · Drug Discovery Today · doi:10.1016/j.drudis.2008.09.012 · Cited by 45 · see citing works

Nonviral ocular gene therapy: assessment and future directions.

Conley, S. M., Cai, X., & Naash, M. I. (2008) · PubMed · Cited by 44 · see citing works

QLT091001, a 9-<i>cis</i>-Retinal Analog, Is Well-Tolerated by Retinas of Mice with Impaired Visual Cycles

Maeda, T., Dong, Z., Jin, H., Sawada, O., Gao, S., Utkhede, D., Monk, W., Palczewska, G., & Palczewski, K. (2013) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.12-11152 · Cited by 41 · see citing works

Phase I Trial of Leber Congenital Amaurosis due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results

Hauswirth, W. W., Alemán, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hgt.2008.107 · Cited by 41 · see citing works

Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

Román, A. J., Sl, B., Alemán, T. S., Jj, P., McDowell, J. H., Se, B., Cideciyan, A. V., Jacobson, S. G., & Hauswirth, W. (2007) · PubMed · Cited by 35 · see citing works

Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: Challenges and opportunities

Lohia, A., Sahel, D. K., Salman, M., Singh, V., Mariappan, I., Mittal, A., & Chitkara, D. (2022) · Asian Journal of Pharmaceutical Sciences · doi:10.1016/j.ajps.2022.02.001 · Cited by 33 · see citing works

Interruption of Wnt Signaling in Müller Cells Ameliorates Ischemia-Induced Retinal Neovascularization

Zhou, K., Benyajati, S., Le, Y., Cheng, R., Zhang, W., & Ma, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0108454 · Cited by 32 · see citing works

Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function

Nusinowitz, S., Ridder, W. H., Pang, J., Chang, B., Noorwez, S. M., Kaushal, S., Hauswirth, W. W., & Heckenlively, J. R. (2006) · Vision Research · doi:10.1016/j.visres.2006.05.010 · Cited by 28 · see citing works

Protective Effects of Fufang Xueshuantong on Diabetic Retinopathy in Rats

Duan, H., Huang, J., Li, W., & Tang, M. (2013) · Evidence-based Complementary and Alternative Medicine · doi:10.1155/2013/408268 · Cited by 27 · see citing works

Targeting iodothyronine deiodinases locally in the retina is a therapeutic strategy for retinal degeneration

Yang, F., Ma, H., Belcher, J., Butler, M. R., Redmond, T. M., Boye, S. L., Hauswirth, W. W., & Ding, X. (2016) · The FASEB Journal · doi:10.1096/fj.201600715r · Cited by 27 · see citing works

Gene Therapy Regenerates Protein Expression in Cone Photoreceptors in Rpe65R91W/R91W Mice

Kostic, C., Crippa, S. V., Pignat, V., Bemelmans, A., Samardzija, M., Grimm, C., Wenzel, A., & Arsenijévic, Y. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016588 · Cited by 26 · see citing works

Nano-vectors for the ocular delivery of nucleic acid-based therapeutics

Khar, R. K., Warsi, M. H., Akhter, S., Ahmad, F., Jain, G. K., Mallick, N., & Pathan, S. (2010) · Indian Journal of Pharmaceutical Sciences · doi:10.4103/0250-474x.84575 · Cited by 26 · see citing works

In Vivo Analysis of Cone Survival in Mice

Beck, S. C., Schaeferhoff, K., Michalakis, S., Fischer, M. D., Huber, G., Rieger, N., Rieß, O., Wissinger, B., Biel, M., von Bonin, M., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4003 · Cited by 22 · see citing works

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Sweeney, M. O., McGee, T. L., Berson, E. L., & Dryja, T. P. (2007) · PubMed Central · Cited by 22 · see citing works

The Roles of Three Palmitoylation Sites of RPE65 in Its Membrane Association and Isomerohydrolase Activity

Takahashi, Y., Moiseyev, G. P., Chen, Y., & Ma, J. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0614 · Cited by 19 · see citing works

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

Kiang, A., Kenna, P. F., Humphries, M. M., Ozaki, E., Koenekoop, R. K., Campbell, M., Farrar, G. J., & Humphries, P. (2020) · Genes · doi:10.3390/genes11121420 · Cited by 18 · see citing works

The Rpe65 rd12 Allele Exerts a Semidominant Negative Effect on Vision in Mice

Wright, C. B., Chrenek, M. A., Feng, W., Getz, S. E., Duncan, T. E., Pardue, M. T., Feng, Y., Redmond, T. M., Boatright, J. H., & Nickerson, J. M. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13574 · Cited by 15 · see citing works

Comparison of Ocular Pathologies in Vitamin A–Deficient Mice and RPE65 Gene Knockout Mice

Hu, Y., Chen, Y., Moiseyev, G. P., Takahashi, Y., Mott, R., & Ma, J. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-7118 · Cited by 15 · see citing works

Deletion of M-Opsin Prevents M Cone Degeneration in a Mouse Model of Leber Congenital Amaurosis

Xu, H., Enemchukwu, N. O., Zhong, X., Zhang, O., & Fu, Y. (2020) · American Journal Of Pathology · doi:10.1016/j.ajpath.2020.01.005 · Cited by 13 · see citing works

Clinical applications of retinal gene therapies

Fu, X., Huu, V. A. N., Duan, Y., Kermany, D., Valentim, C. C. S., Zhang, R., Zhu, J., Zhang, C. L., Sun, X., & Zhang, K. (2018) · Precision Clinical Medicine · doi:10.1093/pcmedi/pby004 · Cited by 11 · see citing works

A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs

Annear, M. J., Mowat, F. M., Occelli, L. M., Smith, A. J., Curran, P. G., Bainbridge, J. W., Ali, R. R., & Petersen‐Jones, S. M. (2021) · Cells · doi:10.3390/cells10010115 · Cited by 10 · see citing works

Gene therapy for eye as regenerative medicine? Lessons from RPE65 gene therapy for Leber's Congenital Amaurosis

Rakoczy, E. P., & Narfström, K. L. (2014) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2014.09.022 · Cited by 10 · see citing works

Identification of Key Residues Determining Isomerohydrolase Activity of Human RPE65

Takahashi, Y., Moiseyev, G. P., & Ma, J.-X. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.558619 · Cited by 10 · see citing works

Light Prevents Exogenous 11- cis Retinal from Maintaining Cone Photoreceptors in Chromophore-Deficient Mice

Fan, J., Crouch, R. K., & Kono, M. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6437 · Cited by 7 · see citing works

iTRAQ-Based Proteomic Analysis of Visual Cycle-Associated Proteins in RPE ofrd12Mice before and afterRPE65Gene Delivery

Zheng, Q., Ren, Y., Tzekov, R. T., Hua, S., Li, M., Pang, J., Qu, J., & Li, W. (2015) · Journal of Ophthalmology · doi:10.1155/2015/918473 · Cited by 6 · see citing works

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec

Štingl, K., Priglinger, C., & Herrmann, P. (2024) · Klinische Monatsblätter für Augenheilkunde · doi:10.1055/a-2227-3671 · Cited by 6 · see citing works

From Vivarium to Bedside: Lessons Learned from Animal Models

Budzynski, E., Lee, Y., Sakamoto, K., Naggert, J. K., & Nishina, P. M. (2006) · Ophthalmic Genetics · doi:10.1080/13816810600977192 · Cited by 3 · see citing works

Resveratrol Protects Photoreceptors in Mouse Models of Retinal Degeneration

Li, S., Ma, H., & Ding, X. (2025) · Antioxidants · doi:10.3390/antiox14020154 · Cited by 2 · see citing works

Modalities of vision restoration in optic neuropathies and retinal disease

Rubin, B. R., Lavinsky, F., Cain, R., Kuriyan, A. E., Wollstein, G., Zambrano, R., & Schuman, J. S. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101474 · Cited by 1 · see citing works

Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trials

Silva, N. F. A. (2010) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · Cited by 1 · see citing works

Therapeutic Benefits from Nanoparticles: The Potential Significance of Nanoscience in Retinal Degenerative Diseases.

Rajala, R. V. S. (2019) · PubMed · Cited by 1 · see citing works

Recent advances on modeling retinal disease: Towards efficient gene/drug therapy

Dolatabadi, E. N., Zaky, M. R. A., Abbas, F. H., Milani, A. E., André, H., & Alizadeh, E. (2025) · Experimental Eye Research · doi:10.1016/j.exer.2025.110416 · Cited by 1 · see citing works

Genomic Considerations in Ophthalmology

Wiggs, J. L. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-374934-5.00055-6

Perception disorders

Pietropaolo, S., Sluyter, F., & Crusio, W. E. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107360556.003

Disorders of the visual system

Thompson, S., & Philp, A. R. (2014) · Cambridge University Press eBooks · doi:10.1017/cbo9781107360556.004

Ophthalmology

Wiggs, J. L. (2009) · Elsevier eBooks · doi:10.1016/b978-0-12-369420-1.00102-5

RPE65 deficiency disrupts inner retinal architecture via impaired VGF signaling in LCA

Wang, S., Yang, J., Hu, X., & Peng, X. (2026) · Visual Neuroscience · doi:10.48130/vns-0026-0035

Lentiviral Gene Transfer-Mediated Cone Vision Restoration in RPE65 Knockout Mice

Bemelmans, A., Kostic, C., Cachafeiro, M. C. B., Crippa, S. V., Wanner, D., Tekaya, M., Wenzel, A., & Arsenijévic, Y. (2007) · Advances in experimental medicine and biology · doi:10.1007/978-0-387-74904-4_9 · Cited by 8 · see citing works

RPE65 Gene Delivery Effectively Restores the Retinol Isomerase Activity in the Rpe65–/– Mouse

Chen, Y., Moiseyev, G. P., Takahashi, Y., & Ma, J. (2005) · Investigative Ophthalmology & Visual Science

Downregulation of Cone-Specific Gene Expression and Degeneration of Cone Photoreceptors in the<i>Rpe65</i>^−/−Mouse at Early Ages

Znoiko, S. L., Rohrer, B., Lu, K., Lohr, H. R., Crouch, R. K., & Ma, J.-X. (2005) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.04-0653 · Cited by 146 · see citing works

RPE65 from Cone-dominant Chicken Is a More Efficient Isomerohydrolase Compared with That from Rod-dominant Species

Moiseyev, G. P., Takahashi, Y., Chen, Y., Kim, S., & Ma, J. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m703654200 · Cited by 24 · see citing works

Retinoid isomerase inhibitors impair but do not block mammalian cone photoreceptor function

Kiser, P. D., Zhang, J., Sharma, A., Angueyra, J. M., Kolesnikov, A. V., Badiee, M., Tochtrop, G. P., Kinoshita, J., Peachey, N. S., Li, W., et al. (2018) · The Journal of General Physiology · doi:10.1085/jgp.201711815 · Cited by 28 · see citing works