Gene Therapy for Inherited Retinal Degeneration

Arbabi, Amirmohsen; Liu, Amelia; Ameri, Hossein

doi:10.1089/jop.2018.0087

Cited by 30Retinal Development and DisordersVirus-based gene therapy researchRNA Interference and Gene Delivery

Gene Therapy for Inherited Retinal Degeneration

Arbabi, Amirmohsen, Liu, Amelia, Ameri, Hossein·2019·Journal of Ocular Pharmacology and Therapeutics

DOI 10.1089/jop.2018.0087

Open this paper in CoChat — free account

Abstract

Inherited retinal degeneration (IRD), a group of rare retinal diseases that primarily lead to the progressive loss of retinal photoreceptor cells, can be inherited in all modes of inheritance: autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and mitochondrial. Based on the pattern of inheritance of the dystrophy, retinal gene therapy has 2 main strategies. AR, XL, and AD IRDs with haploinsufficiency can be treated by inserting a functional copy of the gene using either viral or nonviral vectors (gene augmentation). Different types of viral vectors and nonviral vectors are used to transfer plasmid DNA both in vitro and in vivo . AD IRDs with gain-of-function mutations or dominant-negative mutations can be treated by disrupting the mutant allele with (and occasionally without) gene augmentation. This review article aims to provide an overview of ocular gene therapy for treating IRDs using gene augmentation with viral or nonviral vectors or gene disruption through different gene-editing tools, especially with the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) system.

Integrity signals

Registry

Crossref · 10.1089/jop.2018.0087

Cites

191 of 191 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

The immune-privilege of the eye is not absolute.
“However, adverse outcomes from some clinical trials and evidence from animal studies have demonstrated that the immune-privilege of the eye is not absolute [20].”
From Immune responses to gene editing by viral and non-viral delivery vectors used in retinal gene therapy (2022) · cites this paper as [20]

A Programmable Dual-RNA–Guided DNA Endonuclease in Adaptive Bacterial Immunity
Jinek, M., Chylinski, K., Fonfara, I., Hauer, M., Doudna, J. A., & Charpentier, E. (2012) · Science · doi:10.1126/science.1225829 · Cited by 17,116 · see citing works
Multiplex Genome Engineering Using CRISPR/Cas Systems
Cong, L., Ran, F. A., Cox, D., Lin, S., Barretto, R., Habib, N., Hsu, P. D., Wu, X., Jiang, W., Marraffini, L. A., et al. (2013) · Science · doi:10.1126/science.1231143 · Cited by 15,339 · see citing works
RNA-Guided Human Genome Engineering via Cas9
Mali, P., Yang, L., Esvelt, K. M., Aach, J., Guell, M., DiCarlo, J. E., Norville, J. E., & Church, G. M. (2013) · Science · doi:10.1126/science.1232033 · Cited by 9,210 · see citing works
In Vivo Gene Delivery and Stable Transduction of Nondividing Cells by a Lentiviral Vector
Naldini, L., Blömer, U., Gallay, P., Ory, D., Mulligan, R., Gage, F. H., Verma, I. M., & Trono, D. (1996) · Science · doi:10.1126/science.272.5259.263 · Cited by 4,903 · see citing works
Cpf1 Is a Single RNA-Guided Endonuclease of a Class 2 CRISPR-Cas System
Zetsche, B., Gootenberg, J. S., Abudayyeh, O. O., Slaymaker, I. M., Makarova, K. S., Essletzbichler, P., Volz, S. E., Joung, J., John van der, O. O. S. T., Regev, A., et al. (2015) · Cell · doi:10.1016/j.cell.2015.09.038 · Cited by 4,750 · see citing works
DNA targeting specificity of RNA-guided Cas9 nucleases
Hsu, P. D., Scott, D. A., Weinstein, J. A., Ran, F. A., Konermann, S., Agarwala, V., Li, Y., Fine, E. J., Wu, X., Shalem, O., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2647 · Cited by 4,741 · see citing works
ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
Gaj, T., Gersbach, C. A., & Barbas, C. F. (2013) · Trends in Biotechnology · doi:10.1016/j.tibtech.2013.04.004 · Cited by 3,820 · see citing works
One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering
Wang, H., Yang, H., Shivalila, C. S., Dawlaty, M. M., Cheng, A. W., Zhang, F., & Jaenisch, R. (2013) · Cell · doi:10.1016/j.cell.2013.04.025 · Cited by 3,495 · see citing works
Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity
Ran, F. A., Hsu, P. D., Lin, C.-Y., Gootenberg, J. S., Konermann, S., Trevino, A. E., Scott, D. A., Inoue, A., Matoba, S., Zhang, Y., et al. (2013) · Cell · doi:10.1016/j.cell.2013.08.021 · Cited by 3,299 · see citing works
Isolation of a Common Receptor for Coxsackie B Viruses and Adenoviruses 2 and 5
Bergelson, J. M., Cunningham, J. A., Droguett, G., Kurt‐Jones, E. A., Krithivas, A., Hong, J. S., Horwitz, M. S., Crowell, R. L., & Finberg, R. W. (1997) · Science · doi:10.1126/science.275.5304.1320 · Cited by 3,102 · see citing works
Effect of Surface Properties on Nanoparticle–Cell Interactions
Verma, A., & Stellacci, F. (2009) · Small · doi:10.1002/smll.200901158 · Cited by 2,621 · see citing works
CRISPR RNA Maturation by Trans-Encoded Small RNA and Host Factor RNase III
Deltcheva, E., Chylinski, K., Sharma, C. M., Gonzales, K., Chao, Y., Pirzada, Z. A., Eckert, M. R., Vogel, J., & Charpentier, E. (2011) · Nature · doi:10.1038/nature09886 · Cited by 2,563 · see citing works
The CRISPR/Cas bacterial immune system cleaves bacteriophage and plasmid DNA
Garneau, J. E., Dupuis, M.-È., Villion, M., Romero, D. A., Barrangou, R., Boyaval, P., Fremaux, C., Horvath, P., Magadán, A. H., & Moineau, S. (2010) · Nature · doi:10.1038/nature09523 · Cited by 2,336 · see citing works
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145 · see citing works
RNA-programmed genome editing in human cells
Jinek, M., East, A., Cheng, A., Lin, S., Ma, E., & Doudna, J. (2013) · eLife · doi:10.7554/elife.00471 · Cited by 2,098 · see citing works
Effect of gene therapy on visual function in Leber’s congenital amaurosis
Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924 · see citing works
Targeted genome engineering in human cells with the Cas9 RNA-guided endonuclease
Cho, S. W., Kim, S., Kim, J. M., & Kim, J.-S. (2013) · Nature Biotechnology · doi:10.1038/nbt.2507 · Cited by 1,863 · see citing works
Highly efficient RNA-guided genome editing in human cells via delivery of purified Cas9 ribonucleoproteins
Kim, S., Kim, D., Cho, S. W., Kim, J., & Kim, J.-S. (2014) · Genome Research · doi:10.1101/gr.171322.113 · Cited by 1,856 · see citing works
Self-Inactivating Lentivirus Vector for Safe and Efficient In Vivo Gene Delivery
Zufferey, R., Dull, T., Mandel, R. J., Bukovsky, A., Quiroz, D., Naldini, L., & Trono, D. (1998) · Journal of Virology · doi:10.1128/jvi.72.12.9873-9880.1998 · Cited by 1,815 · see citing works
CAS9 transcriptional activators for target specificity screening and paired nickases for cooperative genome engineering
Mali, P., Aach, J., Stranges, P. B., Esvelt, K. M., Moosburner, M., Kosuri, S., Yang, L., & Church, G. M. (2013) · Nature Biotechnology · doi:10.1038/nbt.2675 · Cited by 1,752 · cited 1× · see citing works
“…of DNA, can produce DSBs with 2 times more speciﬁcity and 50–1,500 times less off-target effects compared with SpCas9 at the same time, 136,138,159,164,165 and (6) high-ﬁdelity Cas9 (SpCas9-HF1) has 4 altered amino acids, compared with the wild-type SpCas9, with higher genomic editing efﬁciency…”
Engineered CRISPR-Cas9 nucleases with altered PAM specificities
Kleinstiver, B. P., Prew, M. S., Tsai, S. Q., Topkar, V. V., Nguyen, N. T., Zheng, Z., Gonzales, A. P. W., Li, Z., Peterson, R. T., Yeh, J.-R. J., et al. (2015) · Nature · doi:10.1038/nature14592 · Cited by 1,624 · see citing works
One-step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering
Yang, H., Wang, H., Shivalila, C. S., Cheng, A. W., Shi, L., & Jaenisch, R. (2013) · Cell · doi:10.1016/j.cell.2013.08.022 · Cited by 1,596 · see citing works
Nanocarriers’ entry into the cell: relevance to drug delivery
Hillaireau, H., & Couvreur, P. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-0053-z · Cited by 1,549 · see citing works
High-throughput profiling of off-target DNA cleavage reveals RNA-programmed Cas9 nuclease specificity
Pattanayak, V., Lin, S., Guilinger, J. P., Ma, E., Doudna, J. A., & Liu, D. R. (2013) · Nature Biotechnology · doi:10.1038/nbt.2673 · Cited by 1,487 · see citing works
Cationic lipid-mediated delivery of proteins enables efficient protein-based genome editing in vitro and in vivo
Zuris, J. A., Thompson, D. B., Shu, Y., Guilinger, J. P., Bessen, J. L., Hu, J. H., Maeder, M. L., Joung, J. K., Chen, Z.-Y., & Liu, D. R. (2015) · Nature Biotechnology · doi:10.1038/nbt.3081 · Cited by 1,460 · see citing works
Adeno-Associated Virus (AAV) as a Vector for Gene Therapy
Naso, M. F., Tomkowicz, B., Perry, W. L., & Strohl, W. R. (2017) · BioDrugs · doi:10.1007/s40259-017-0234-5 · Cited by 1,362 · see citing works
Analysis of off-target effects of CRISPR/Cas-derived RNA-guided endonucleases and nickases
Cho, S. W., Kim, S., Kim, Y., Kweon, J., Kim, H. S., Bae, S., & Kim, J.-S. (2014) · Genome Research · doi:10.1101/gr.162339.113 · Cited by 1,356 · see citing works
Increasing the efficiency of homology-directed repair for CRISPR-Cas9-induced precise gene editing in mammalian cells
Chu, V. T., Weber, T., Wefers, B., Wurst, W., Sander, S., Rajewsky, K., & Kühn, R. (2015) · Nature Biotechnology · doi:10.1038/nbt.3198 · Cited by 1,210 · see citing works
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
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy
Nelson, C. E., Hakim, C. H., Ousterout, D. G., Thakore, P. I., Moreb, E. A., Rivera, R. M. C., Madhavan, S., Pan, X., Ran, F. A., Yan, W. X., et al. (2016) · Science · doi:10.1126/science.aad5143 · Cited by 1,144 · see citing works
Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining
Maruyama, T., Dougan, S. K., Truttmann, M. C., Bilate, A. M., Ingram, J. R., & Ploegh, H. L. (2015) · Nature Biotechnology · doi:10.1038/nbt.3190 · Cited by 1,137 · see citing works
In vivo gene editing in dystrophic mouse muscle and muscle stem cells
Tabebordbar, M., Zhu, K., Cheng, J. K. W., Chew, W. L., Widrick, J. J., Yan, W. X., Maesner, C., Wu, E. Y., Xiao, R., Ran, F. A., et al. (2016) · Science · doi:10.1126/science.aad5177 · Cited by 1,046 · see citing works
Effect of genome size on AAV vector packaging
Wu, Z., Yang, H., & Colosi, P. (2010) · Molecular Therapy · doi:10.1038/mt.2009.255 · Cited by 1,025 · see citing works
Cell-Penetrating Peptides: Design, Synthesis, and Applications
Copolovici, D. M., Langel, K., Eriste, E., & Langel, Ü. (2014) · ACS Nano · doi:10.1021/nn4057269 · Cited by 967 · see citing works
Treatment of Leber Congenital Amaurosis Due to <i>RPE65</i> Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial
Hauswirth, W. W., Aleman, T. S., Kaushal, S., Cideciyan, A. V., Schwartz, S. B., Wang, L., Conlon, T. J., Boye, S. L., Flotte, T. R., Byrne, B. J., et al. (2008) · Human Gene Therapy · doi:10.1089/hum.2008.107 · Cited by 954 · see citing works
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype
Yin, H., Xue, W., Chen, S., Bogorad, R. L., Benedetti, E., Grompe, M., Koteliansky, V., Sharp, P. A., Jacks, T., & Anderson, D. G. (2014) · Nature Biotechnology · doi:10.1038/nbt.2884 · Cited by 951 · see citing works
Genome-wide binding of the CRISPR endonuclease Cas9 in mammalian cells
Wu, X., Scott, D. A., Kriz, A. J., Chiu, A. C., Hsu, P. D., Dadon, D. B., Cheng, A. W., Trevino, A. E., Konermann, S., Chen, S., et al. (2014) · Nature Biotechnology · doi:10.1038/nbt.2889 · Cited by 944 · see citing works
Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy
Long, C., Amoasii, L., Mireault, A. A., McAnally, J., Li, H. Z., Sanchez‐Ortiz, E., Bhattacharyya, S., Shelton, J. M., Bassel‐Duby, R., & Olson, E. N. (2015) · Science · doi:10.1126/science.aad5725 · Cited by 941 · see citing works
Gene therapy using adeno-associated virus vectors
Daya, S., & Berns, K. I. (2008) · Clinical Microbiology Reviews · doi:10.1128/cmr.00008-08 · Cited by 926 · see citing works
Viral and nonviral delivery systems for gene delivery
Nouri, N., Talebi, M., & Ali, P. (2012) · Advanced Biomedical Research · doi:10.4103/2277-9175.98152 · Cited by 861 · see citing works
Cross-Packaging of a Single Adeno-Associated Virus (AAV) Type 2 Vector Genome into Multiple AAV Serotypes Enables Transduction with Broad Specificity
Rabinowitz, J. E., Rolling, F., Li, C., Conrath, H., Xiao, W., Xiao, X., & Samulski, R. J. (2002) · Journal of Virology · doi:10.1128/jvi.76.2.791-801.2002 · Cited by 762 · see citing works
In Vivo–Directed Evolution of a New Adeno-Associated Virus for Therapeutic Outer Retinal Gene Delivery from the Vitreous
Dalkara, D., Byrne, L. C., Klimczak, R. R., Visel, M., Yin, L., Merigan, W. H., Flannery, J. G., & Schaffer, D. V. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3005708 · Cited by 734 · cited 1× · see citing works
“47 The AAV2.”
Genome-editing Technologies for Gene and Cell Therapy
Maeder, M. L., & Gersbach, C. A. (2016) · Molecular Therapy · doi:10.1038/mt.2016.10 · Cited by 722 · see citing works
In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni
Kim, E., Koo, T., Park, S. W., Kim, D., Kim, K., Cho, H.-Y., Song, D. W., Lee, K. J., Jung, M. H., Kim, S., et al. (2017) · Nature Communications · doi:10.1038/ncomms14500 · Cited by 715 · see citing works
Nonviral Gene Delivery: Principle, Limitations, and Recent Progress
Al-Dosari, M. S., & Gao, X. (2009) · The AAPS Journal · doi:10.1208/s12248-009-9143-y · Cited by 706 · see citing works
Gene disruption by cell-penetrating peptide-mediated delivery of Cas9 protein and guide RNA
Ramakrishna, S., Kwaku Dad, A.-B., Beloor, J., Gopalappa, R., Lee, S.-K., & Kim, H. (2014) · Genome Research · doi:10.1101/gr.171264.113 · Cited by 655 · see citing works
Modified mRNA directs the fate of heart progenitor cells and induces vascular regeneration after myocardial infarction
Zangi, L., Lui, K. O., von Gise, A., Ma, Q., Ebina, W., Ptaszek, L. M., Später, D., Xu, H., Tabebordbar, M., Gorbatov, R., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2682 · Cited by 646 · see citing works
Retinitis Pigmentosa: Genes and Disease Mechanisms
Parmeggiani, F., Sorrentino, F. S., Ponzin, D., Barbaro, V., Ferrari, S., & Iorio, E. D. (2011) · Current Genomics · doi:10.2174/138920211795860107 · Cited by 636 · see citing works
The molecular basis of human retinal and vitreoretinal diseases
Berger, W., Kloeckener‐Gruissem, B., & Neidhardt, J. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.03.004 · Cited by 609 · see citing works
CRISPR/Cas9 systems targeting β-globin and CCR5 genes have substantial off-target activity
Cradick, T. J., Fine, E. J., Antico, C. J., & Bao, G. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt714 · Cited by 590 · see citing works
Constitutively active mutants of rhodopsin
Robinson, P. R., Cohen, G. B., Zhukovsky, E. A., & Oprian, D. D. (1992) · Neuron · doi:10.1016/0896-6273(92)90034-b · Cited by 514 · see citing works
Structure-based redesign of the dimerization interface reduces the toxicity of zinc-finger nucleases
Szczepek, M., Brondani, V., Büchel, J., Serrano, L., Segal, D. J., & Cathomen, T. (2007) · Nature Biotechnology · doi:10.1038/nbt1317 · Cited by 501 · see citing works
Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: A morphological and ERG study
Gargini, C., Tozzini, E. T., Mazzoni, F., & Strettoi, E. (2006) · The Journal of Comparative Neurology · doi:10.1002/cne.21144 · Cited by 496 · see citing works
Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector
Miyoshi, H., Takahashi, M., Gage, F. H., & Verma, I. M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.19.10319 · Cited by 494 · 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
Use of adeno-associated virus as a mammalian DNA cloning vector: transduction of neomycin resistance into mammalian tissue culture cells.
Hermonat, P. L., & Muzyczka, N. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.20.6466 · Cited by 480 · see citing works
In vivo gene transfer via intravenous administration of cationic lipid–protamine–DNA (LPD) complexes
Li, S., & Huang, L. (1997) · Gene Therapy · doi:10.1038/sj.gt.3300482 · Cited by 478 · see citing works
Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy
Ousterout, D. G., Kabadi, A. M., Thakore, P. I., Majoros, W. H., Reddy, T. E., & Gersbach, C. A. (2015) · Nature Communications · doi:10.1038/ncomms7244 · Cited by 470 · see citing works
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Stone, E. M., Andorf, J. L., Whitmore, S. S., DeLuca, A. P., Giacalone, J. C., Streb, L. M., Braun, T. A., Mullins, R. F., Scheetz, T. E., Sheffield, V. C., et al. (2017) · Ophthalmology · doi:10.1016/j.ophtha.2017.04.008 · Cited by 465 · see citing works
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial
Bennett, J., Wellman, J., Marshall, K. A., McCague, S., Ashtari, M., DiStefano-Pappas, J., Elci, O. U., Chung, D. C., Sun, J., Wright, J. F., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)30371-3 · Cited by 461 · see citing works
Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
Olsson, J. E., Gordon, J. W., Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L., & Dryja, T. P. (1992) · Neuron · doi:10.1016/0896-6273(92)90236-7 · Cited by 455 · 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
Crystal Structure of Staphylococcus aureus Cas9
Nishimasu, H., Cong, L., Yan, W. X., Ran, F. A., Zetsche, B., Li, Y., Kurabayashi, A., Ishitani, R., Zhang, F., & Nureki, O. (2015) · Cell · doi:10.1016/j.cell.2015.08.007 · Cited by 430 · see citing works
Meganucleases and Other Tools for Targeted Genome Engineering: Perspectives and Challenges for Gene Therapy
Silva, G., Poirot, L., Galetto, R., Smith, J. N. P., Montoya, G., Duchateau, P. N., & Pâques, F. (2011) · Current Gene Therapy · doi:10.2174/156652311794520111 · Cited by 428 · see citing works
RS-1 enhances CRISPR/Cas9- and TALEN-mediated knock-in efficiency
Song, J. W., Yang, D., Xu, J., Zhu, T., Chen, Y. E., & Zhang, J. (2016) · Nature Communications · doi:10.1038/ncomms10548 · Cited by 418 · see citing works
High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors
Petrs-Silva, H., Dinculescu, A., Li, Q., Min, S.-H., Chiodo, V., Pang, J.-J., Zhong, L., Zolotukhin, S., Srivastava, A., Lewin, A. S., et al. (2009) · Molecular Therapy · doi:10.1038/mt.2008.269 · Cited by 398 · see citing works
AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness
Bennett, J., Ashtari, M., Wellman, J., Marshall, K. A., Cyckowski, L. L., Chung, D. C., McCague, S., Pierce, E. A., Chen, Y., Bennicelli, J. L., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3002865 · Cited by 395 · see citing works
Two mouse retinal degenerations caused by missense mutations in the β-subunit of rod cGMP phosphodiesterase gene
Chang, B., Hawes, N. L., Pardue, M. T., German, A. M., Hurd, R. E., Davisson, M. T., Nusinowitz, S., Rengarajan, K., Boyd, A. P., Sidney, S. S., et al. (2007) · Vision Research · doi:10.1016/j.visres.2006.11.020 · Cited by 395 · see citing works
Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model
Auricchio, A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.26.3075 · Cited by 394 · see citing works
Gene therapy progress and prospects: non-viral gene therapy by systemic delivery
Li, S.-D., & Huang, L. (2006) · Gene Therapy · doi:10.1038/sj.gt.3302838 · Cited by 392 · see citing works
The CRISPR System: Small RNA-Guided Defense in Bacteria and Archaea
Karginov, F. V., & Hannon, G. J. (2010) · Molecular Cell · doi:10.1016/j.molcel.2009.12.033 · Cited by 384 · see citing works
Phagocytosis of rod outer segments by retinal pigment epithelial cells requires αvβ5 integrin for binding but not for internalization
Finnemann, S. C., Bonilha, V. L., Marmorstein, A. D., & Rodriguez-Boulan, E. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.24.12932 · Cited by 382 · see citing works
A library of TAL effector nucleases spanning the human genome
Kim, Y., Kweon, J., Kim, A., Chon, J. K., Yoo, J. Y., Kim, H. J., Kim, S., Lee, C., Jeong, E., Chung, E., et al. (2013) · Nature Biotechnology · doi:10.1038/nbt.2517 · Cited by 371 · see citing works
Characterization of cationic lipid-protamine–DNA (LPD) complexes for intravenous gene delivery
Li, S., Rizzo, M., Bhattacharya, S. S., & Huang, L. (1998) · Gene Therapy · doi:10.1038/sj.gt.3300683 · Cited by 369 · see citing works
Inner limiting membrane barriers to aav-mediated retinal transduction from the vitreous
Dalkara, D., Kolstad, K. D., Caporale, N., Visel, M., Klimczak, R. R., Schaffer, D. V., & Flannery, J. G. (2009) · Molecular Therapy · doi:10.1038/mt.2009.181 · Cited by 357 · see citing works
Knock-in of large reporter genes in human cells via CRISPR/Cas9-induced homology-dependent and independent DNA repair
He, X., Tan, C., Wang, F., Wang, Y., Zhou, R., Cui, D., You, W., Zhao, H., Ren, J., & Feng, B. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw064 · Cited by 338 · see citing works
Phylogeny of Cas9 determines functional exchangeability of dual-RNA and Cas9 among orthologous type II CRISPR-Cas systems
Fonfara, I., Rhun, A. L., Chylinski, K., Makarova, K. S., Lécrivain, A.-L., Bzdrenga, J., Koonin, E. V., & Charpentier, E. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1074 · Cited by 329 · see citing works
Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy
Bennett, J., Tanabe, T., Sun, D., Zeng, Y., Kjeldbye, H., Gouras, P., & Maguire, A. M. (1996) · Nature Medicine · doi:10.1038/nm0696-649 · Cited by 316 · see citing works
Differential integrity of TALE nuclease genes following adenoviral and lentiviral vector gene transfer into human cells
Holkers, M., Maggio, I., Liu, J., Janssen, J. M., Miselli, F., Mussolino, C., Recchia, A., Cathomen, T., & Gonçalves, M. A. F. V. (2013) · Nucleic Acids Research · doi:10.1093/nar/gks1446 · Cited by 312 · see citing works
Characteristics and Taxonomy of Parvoviridae
Siegl, G., Bates, R. C., Berns, K. I., Carter, B. J., Kelly, D. C., Kurstak, E., & Tattersall, P. J. (1985) · Intervirology · doi:10.1159/000149587 · Cited by 311 · see citing works
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa
Bakondi, B., Lv, W., Lü, B., Jones, M. K., Tsai, Y.-C., Kim, K. J., Levy, R., Akhtar, A. A., Breunig, J. J., Svendsen, C. N., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.220 · Cited by 300 · see citing works
DNA electrotransfer: its principles and an updated review of its therapeutic applications
André, F. M., & Mir, L. M. (2004) · Gene Therapy · doi:10.1038/sj.gt.3302367 · Cited by 292 · see citing works
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
Jacobson, S. G., Alemán, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S., Windsor, E. A. M., Traboulsi, E. I., Héon, E., Pittler, S. J., Milam, A. H., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0500646102 · Cited by 276 · see citing works
Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice
Yu, W., Mookherjee, S., Chaitankar, V., Hiriyanna, S., Kim, J.-W., Brooks, M., Ataeijannati, Y., Sun, X., Dong, L., Li, T., et al. (2017) · Nature Communications · doi:10.1038/ncomms14716 · Cited by 271 · see citing works
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10
Ruan, G.-X., Barry, E., Yu, D., Lukason, M., Cheng, S. H., & Scaria, A. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2016.12.006 · Cited by 270 · see citing works
Effective delivery of large genes to the retina by dual AAV vectors
Trapani, I., Colella, P., Sommella, A., Iodice, C., Cesi, G., de Simone, S., Marrocco, E., Rossi, S., Giunti, M., Palfi, A., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201302948 · Cited by 269 · see citing works
Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer
Bennicelli, J., Wright, J. F., Komaromy, A., Jacobs, J. B., Hauck, B., Zelenaia, O., Mingozzi, F., Hui, D., Chung, D., Rex, T. S., et al. (2008) · Molecular Therapy · doi:10.1038/sj.mt.6300389 · Cited by 267 · see citing works
Novel properties of tyrosine-mutant AAV2 vectors in the mouse retina
Petrs-Silva, H., Dinculescu, A., Li, Q., Deng, W.-T., Pang, J.-J., Min, S.-H., Chiodo, V., Neeley, A. W., Govindasamy, L., Bennett, A., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2010.234 · Cited by 267 · see citing works
RNA interference: concept to reality in crop improvement
Saurabh, S., Vidyarthi, A. S., & Prasad, D. (2014) · Planta · doi:10.1007/s00425-013-2019-5 · Cited by 252 · see citing works
Novel adeno-associated virus serotypes efficiently transduce murine photoreceptors
Allocca, M., Mussolino, C., Garcia-Hoyos, M., Sanges, D., Iodice, C., Petrillo, M., Vandenberghe, L. H., Wilson, J. M., Marigo, V., Surace, E. M., et al. (2007) · Journal of Virology · doi:10.1128/jvi.01327-07 · Cited by 246 · see citing works
Protein delivery into live cells by incubation with an endosomolytic agent
Erazo‐Oliveras, A., Najjar, K., Dayani, L., Wang, T., Johnson, G. A., & Pellois, J. (2014) · Nature Methods · doi:10.1038/nmeth.2998 · Cited by 234 · see citing works
Type V CRISPR-Cas Cpf1 endonuclease employs a unique mechanism for crRNA-mediated target DNA recognition
Gao, P., Yang, H., Rajashankar, K. R., Huang, Z., & Patel, D. J. (2016) · Cell Research · doi:10.1038/cr.2016.88 · Cited by 231 · see citing works
Gene Therapy for Leber Hereditary Optic Neuropathy
Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L., & Guy, J. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.10.025 · Cited by 230 · see citing works
Intravitreous injection of AAV2-sFLT01 in patients with advanced neovascular age-related macular degeneration: a phase 1, open-label trial
Heier, J. S., Kherani, S., Desai, S., Dugel, P., Kaushal, S., Cheng, S. H., Delacono, C., Purvis, A., Richards, S., Le-Halpere, A., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)30979-0 · Cited by 229 · see citing works
Rapid characterization of CRISPR-Cas9 protospacer adjacent motif sequence elements
Karvelis, T., Gasiūnas, G., Young, J. K., Bigelyte, G., Šilanskas, A., Cigan, M., & Šikšnys, V. (2015) · Genome biology · doi:10.1186/s13059-015-0818-7 · Cited by 222 · see citing works
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
Kong, J., Kim, S.-R., Binley, K. E., Pata, I., Doi, K., Männik, J., Zernant-Rajang, J., Kan, O., Iqball, S., Naylor, S., et al. (2008) · Gene Therapy · doi:10.1038/gt.2008.78 · Cited by 214 · see citing works
Novel AAV serotypes for improved ocular gene transfer
Lebherz, C., Maguire, A. M., Tang, W., Bennett, J., & Wilson, J. M. (2008) · The Journal of Gene Medicine · doi:10.1002/jgm.1126 · Cited by 207 · see citing works
Chromosomal translocations induced at specified loci in human stem cells
Brunet, E., Simsek, D., Tomishima, M. J., DeKelver, R. C., Choi, V. M., Gregory, P. D., Urnov, F. D., Weinstock, D. M., & Jasin, M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0902076106 · Cited by 206 · see citing works
Potent Delivery of Functional Proteins into Mammalian Cells in Vitro and in Vivo Using a Supercharged Protein
Cronican, J. J., Thompson, D. B., Beier, K. T., McNaughton, B. R., Cepko, C. L., & Liu, D. R. (2010) · ACS Chemical Biology · doi:10.1021/cb1001153 · Cited by 205 · see citing works
A Human Parvovirus, Adeno-Associated Virus, as a Eucaryotic Vector: Transient Expression and Encapsidation of the Procaryotic Gene for Chloramphenicol Acetyltransferase
Tratschin, J. D., West, M. H., Sandbank, T., & Carter, B. J. (1984) · Molecular and Cellular Biology · doi:10.1128/mcb.4.10.2072 · Cited by 202 · see citing works
Virus-Mediated Transduction of Murine Retina with Adeno-Associated Virus: Effects of Viral Capsid and Genome Size
Yang, G. S., Schmidt, M., Yan, Z., Lindbloom, J. D., Harding, T. C., Donahue, B. A., Engelhardt, J. F., Kotin, R. M., & Davidson, B. L. (2002) · Journal of Virology · doi:10.1128/jvi.76.15.7651-7660.2002 · Cited by 200 · 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 198 · see citing works
The Inheritance of a Retinal Abnormality in White Mice
Keeler, C. E. (1924) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.10.7.329 · Cited by 197 · see citing works
Targeting Channelrhodopsin-2 to ON-bipolar Cells With Vitreally Administered AAV Restores ON and OFF Visual Responses in Blind Mice
Macé, É., Caplette, R., Marre, O., Sengupta, A., Chaffiol, A., Barbe, P., Desrosiers, M., Bamberg, E., Sahel, J., Picaud, S. A., et al. (2014) · Molecular Therapy · doi:10.1038/mt.2014.154 · Cited by 197 · see citing works
A Gene Regulatory Network Controls the Binary Fate Decision of Rod and Bipolar Cells in the Vertebrate Retina
Wang, S., Sengel, C., Emerson, M. M., & Cepko, C. L. (2014) · Developmental Cell · doi:10.1016/j.devcel.2014.07.018 · Cited by 194 · see citing works
Pharmacology of Recombinant Adeno-associated Virus Production
Penaud-Budloo, M., François, A., Clément, N., & Ayuso, E. (2018) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2018.01.002 · Cited by 177 · see citing works
Improved delivery of Cas9 protein/gRNA complexes using lipofectamine CRISPRMAX
Yu, X., Liang, X., Xie, H., Kumar, S., Ravinder, N., Potter, J., du Jeu, X. D. M., & Chesnut, J. D. (2016) · Biotechnology Letters · doi:10.1007/s10529-016-2064-9 · Cited by 174 · see citing works
RNA Interference–Mediated Suppression and Replacement of Human Rhodopsin In Vivo
O’Reilly, M., Palfi, A., Chadderton, N., Millington‐Ward, S., Ader, M., Cronin, T., Tuohy, T., Auricchio, A., Hildinger, M., Tivnan, A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519025 · Cited by 173 · see citing works
Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors
Kay, C. N., Ryals, R. C., Aslanidi, G. V., Min, S. H., Ruan, Q., Sun, J., Dyka, F. M., Kasuga, D., Ayala, A. E., Van Vliet, K., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0062097 · Cited by 168 · see citing works
In vivo Editing of the Human Mutant Rhodopsin Gene by Electroporation of Plasmid-based CRISPR/Cas9 in the Mouse Retina
Latella, M. C., Salvo, M. T. D., Cocchiarella, F., Benati, D., Grisendi, G., Comitato, A., Marigo, V., & Recchia, A. (2016) · Molecular Therapy — Nucleic Acids · doi:10.1038/mtna.2016.92 · Cited by 166 · see citing works
Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleasesPreprint
Lee, H. J., Kweon, J., Kim, E., Kim, S., & Kim, J. (2011) · Genome Research · doi:10.1101/gr.129635.111 · Cited by 165 · see citing works
The postnatal development of the retina in the normal and rodless CBA mouse: A light and electron microscopic study
Caley, D. W., Johnson, C., & Liebelt, R. A. (1972) · American Journal of Anatomy · doi:10.1002/aja.1001330205 · Cited by 161 · see citing works
Persistent transgene product in retina, optic nerve and brain after intraocular injection of rAAV
Dudus, L., Anand, V., Acland, G. M., Chen, S.-J., Wilson, J. M., Fisher, K. J., Maguire, A. M., & Bennett, J. (1999) · Vision Research · doi:10.1016/s0042-6989(98)00308-3 · Cited by 160 · see citing works
Gene delivery to the eye using adeno-associated viral vectors
Martin, K. R. G., Klein, R. L., & Quigley, H. A. (2002) · Methods · doi:10.1016/s1046-2023(02)00232-3 · Cited by 149 · see citing works
Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa
Pang, J., Dai, X., Boye, S. L., Barone, I., Boye, S. L., Mao, S., Everhart, D., Dinculescu, A., Liu, L., Umino, Y., et al. (2010) · Molecular Therapy · doi:10.1038/mt.2010.273 · Cited by 148 · see citing works
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector
Cideciyan, A. V., Sudharsan, R., Dufour, V. L., Massengill, M. T., Iwabe, S., Swider, M., Lisi, B., Sumaroka, A., Marinho, L. F., Appelbaum, T., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1805055115 · Cited by 147 · see citing works
Evaluation of Risks Related to the Use of Adeno-Associated Virus-Based Vectors
Tenenbaum, L., Lehtonen, E., & Monahan, P. E. (2003) · Current Gene Therapy · doi:10.2174/1566523034578131 · Cited by 146 · see citing works
Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
Millington‐Ward, S., Chadderton, N., O’Reilly, M., Palfi, A., Goldmann, T., Kilty, C., Humphries, M. M., Wolfrum, U., Bennett, J., Humphries, P., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2010.293 · Cited by 141 · see citing works
Plasmid size up to 20 kbp does not limit effective in vivo lung gene transfer using compacted DNA nanoparticles
Fink, T. L., Klepcyk, P. J., Oette, S. M., Gedeon, C. R., Hyatt, S. L., Kowalczyk, T. H., Moen, R. C., & Cooper, M. J. (2006) · Gene Therapy · doi:10.1038/sj.gt.3302761 · Cited by 139 · see citing works
Small molecules enhance CRISPR/Cas9-mediated homology-directed genome editing in primary cells
Li, G., Zhang, X., Zhong, C., Mo, J., Quan, R., Yang, J., Liu, D., Li, Z., Yang, H., & Wu, Z. (2017) · Scientific Reports · doi:10.1038/s41598-017-09306-x · Cited by 139 · see citing works
AAV-Mediated Gene Therapy for Retinal Degeneration in the rd10 Mouse Containing a Recessive PDEβ Mutation
Pang, J., Boye, S. L., Kumar, A., Dinculescu, A., Deng, W., Li, J., Li, Q., Rani, A., Foster, T. C., Chang, B., et al. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1622 · Cited by 137 · see citing works
Immune response following intraocular delivery of recombinant viral vectors
Bennett, J. (2003) · Gene Therapy · doi:10.1038/sj.gt.3302030 · Cited by 133 · see citing works
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
Giannelli, S. G., Luoni, M., Castoldi, V., Massimino, L., Cabassi, T., Angeloni, D., Demontis, G. C., Leocani, L., Andreazzoli, M., & Broccoli, V. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx438 · Cited by 133 · see citing works
Modulating DNA Repair Pathways to Improve Precision Genome Engineering
Pawelczak, K. S., Gavande, N. S., VanderVere-Carozza, P. S., & Turchi, J. J. (2017) · ACS Chemical Biology · doi:10.1021/acschembio.7b00777 · Cited by 132 · see citing works
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.
Li, T., Franson, W. K., Gordon, J. W., Berson, E. L., & Dryja, T. P. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.8.3551 · Cited by 129 · see citing works
AAV-mediated CRISPR/cas gene editing of retinal cells in vivo
Hung, S. S. C., Chrysostomou, V., Li, F., Lim, J. K. H., Wang, J.-H., Powell, J. E., Tu, L., Daniszewski, M., Lo, C., Wong, R. C., et al. (2016) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.16-19316 · Cited by 125 · see citing works
Therapeutic gene editing: delivery and regulatory perspectives
Shim, G., Kim, D., Park, G. T., Jin, H., Suh, S., & Oh, Y. (2017) · Acta Pharmacologica Sinica · doi:10.1038/aps.2017.2 · Cited by 125 · see citing works
CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting
Courtney, D., Moore, J. E., Atkinson, S. D., Maurizi, E., Allen, E. H. A., Pedrioli, D. M. L., McLean, W. H. I., Nesbit, M. A., & Moore, T. (2015) · Gene Therapy · doi:10.1038/gt.2015.82 · Cited by 124 · see citing works
Engineering and Identifying Supercharged Proteins for Macromolecule Delivery into Mammalian Cells
Thompson, D. B., Cronican, J. J., & Liu, D. R. (2012) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/b978-0-12-396962-0.00012-4 · Cited by 121 · see citing works
Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa
Tsai, Y.-T., Wu, W.-H., Lee, T.-T., Wu, W.-P., Xu, C. L., Park, K. S., Cui, X., Justus, S., Lin, C.-S., Jauregui, R., et al. (2018) · Ophthalmology · doi:10.1016/j.ophtha.2018.04.001 · Cited by 119 · 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
AAV Delivery of Wild-Type Rhodopsin Preserves Retinal Function in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa
Mao, H., Thomas, J., Schwein, A., Shabashvili, A. E., Hauswirth, W. W., Gorbatyuk, M. S., & Lewin, A. S. (2010) · Human Gene Therapy · doi:10.1089/hum.2010.140 · Cited by 114 · see citing works
Intravitreal injection of adeno-associated viral vectors results in the transduction of different types of retinal neurons in neonatal and adult rats: A comparison with lentiviral vectors
Harvey, A. R., Kamphuis, W., Eggers, R., Symons, N. A., Blits, B., Niclou, S., Boer, G. J., & Verhaagen, J. (2002) · Molecular and Cellular Neuroscience · doi:10.1006/mcne.2002.1168 · Cited by 114 · see citing works
Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration
Kumar‐Singh, R., & Farber, D. B. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.12.1893 · Cited by 114 · see citing works
Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward
Bennett, J. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2017.03.008 · Cited by 110 · see citing works
Nanoparticle-based technologies for retinal gene therapy
Adijanto, J., & Naash, M. I. (2015) · European Journal of Pharmaceutics and Biopharmaceutics · doi:10.1016/j.ejpb.2014.12.028 · Cited by 107 · see citing works
Immune Responses Limit Adenovirally Mediated Gene Expression in the Adult Mouse Eye
Reichel, M., Ali, R., Thrasher, A., Hunt, D., Bhattacharya, S., & Baker, D. (1998) · Gene Therapy · doi:10.1038/sj.gt.3300691 · Cited by 106 · see citing works
Ocular gene delivery using lentiviral vectors
Balaggan, K. S., & Ali, R. R. (2011) · Gene Therapy · doi:10.1038/gt.2011.153 · Cited by 104 · see citing works
A Guide to Approaching Regulatory Considerations for Lentiviral-Mediated Gene Therapies
White, M. S., Whittaker, R. G., Gándara, C., & Stoll, E. A. (2017) · Human Gene Therapy Methods · doi:10.1089/hgtb.2017.096 · Cited by 103 · see citing works
Comparative analysis of in vivo and in vitro AAV vector transduction in the neonatal mouse retina: Effects of serotype and site of administration
Pang, J.-J., Lauramore, A., Deng, W.-T., Li, Q., Doyle, T. J., Chiodo, V., Li, J., & Hauswirth, W. W. (2008) · Vision Research · doi:10.1016/j.visres.2007.08.009 · Cited by 97 · see citing works
Variability in Rate of Cone Degeneration in the Retinal Degeneration (rd/rd) Mouse
LaVail, M. M., Matthes, M. T., Yasumura, D., et al. (1997) · Experimental Eye Research · doi:10.1006/exer.1997.0308 · Cited by 95 · see citing works
Efficient transgene reconstitution with hybrid dual AAV vectors carrying the minimized bridging sequences
Ghosh, A., Yue, Y., & Duan, D. (2011) · Human Gene Therapy · doi:10.1089/hum.2010.122 · Cited by 95 · see citing works
IL4 gene delivery to the CNS recruits regulatory T cells and induces clinical recovery in mouse models of multiple sclerosis
Butti, E., Bergami, A., Recchia, A., Brambilla, E., Carro, U. D., Amadio, S., Cattalini, A., Esposito, M., Stornaiuolo, A., Comı, G., et al. (2008) · Gene Therapy · doi:10.1038/gt.2008.10 · Cited by 94 · see citing works
Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles
Apaolaza, P. S., del Pozo‐Rodríguez, A., Solinís, M. Á., Rodríguez, J. M., Friedrich, U., Torrecilla, J., Weber, B. H. F., & Rodríguez‐Gascón, A. (2016) · Biomaterials · doi:10.1016/j.biomaterials.2016.03.004 · Cited by 91 · see citing works
The Nature of Dominant Mutations of Rhodopsin and Implications for Gene Therapy
Wilson, J. H., & Wensel, T. G. (2003) · Molecular Neurobiology · doi:10.1385/mn:28:2:149 · Cited by 89 · see citing works
Enhanced gene delivery to the neonatal retina through systemic administration of tyrosine-mutated AAV9
Dalkara, D., Byrne, L. C., Lee, T., Hoffmann, N., Schaffer, D. V., & Flannery, J. G. (2011) · Gene Therapy · doi:10.1038/gt.2011.163 · Cited by 82 · see citing works
Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations
Beltran, W. A., Cideciyan, A. V., Boye, S. E., Ye, G.-J., Iwabe, S., Dufour, V. L., Marinho, L. F., Swider, M., Kosyk, M. S., Sha, J., et al. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2017.05.004 · Cited by 82 · see citing works
Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease
Gerber, S., Rozet, J., van de Pol, T. J. R., Hoyng, C. B., Münnich, A., Blankenagel, A., Kaplan, J., & Cremers, F. P. M. (1998) · Genomics · doi:10.1006/geno.1997.5164 · Cited by 79 · see citing works
Replication of adenovirus mini-chromosomes
Hay, R. T., Stow, N. D., & McDougall, I. M. (1984) · Journal of Molecular Biology · doi:10.1016/0022-2836(84)90181-5 · Cited by 78 · see citing works
Highly Efficient Delivery of Adeno-Associated Viral Vectors to the Primate Retina
Boye, S. L., Alexander, J. J., Witherspoon, C. D., Boye, S. L., Peterson, J. J., Clark, M. E., Sandefer, K. J., Girkin, C. A., Hauswirth, W. W., & Gamlin, P. D. (2016) · Human Gene Therapy · doi:10.1089/hum.2016.085 · Cited by 78 · see citing works
Assessment of AAV Vector Tropisms for Mouse and Human Pluripotent Stem Cell-Derived RPE and Photoreceptor Cells
Gonzalez-Cordero, A., Goh, D., Kruczek, K., Naeem, A., Fernando, M., kleine Holthaus, S.-M., Takaaki, M., Blackford, S. J. I., Kloc, M., Agundez, L., et al. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.027 · Cited by 77 · see citing works
Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness
Scalabrino, M. L., Boye, S. L., Fransen, K. M., Noel, J. M., Dyka, F. M., Min, S. H., Ruan, Q., de Leeuw, C. N., Simpson, E. M., Gregg, R. G., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv341 · Cited by 75 · see citing works
Zinc‐finger‐based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa
Mussolino, C., Sanges, D., Marrocco, E., Bonetti, C., Vicino, U. D., Marigo, V., Auricchio, A., Meroni, G., & Surace, E. M. (2011) · EMBO Molecular Medicine · doi:10.1002/emmm.201000119 · Cited by 73 · see citing works
In Vivo Knockout of the Vegfa Gene by Lentiviral Delivery of CRISPR/Cas9 in Mouse Retinal Pigment Epithelium Cells
Holmgaard, A., Askou, A. L., Benckendorff, J. N. E., Thomsen, E. A., Cai, Y., Bek, T., Mikkelsen, J. G., & Corydon, T. J. (2017) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2017.08.016 · Cited by 72 · see citing works
The carboxyl-terminal domain is essential for rhodopsin transport in rod photoreceptors
Concepcion, F. A., Méndez, A., & Chen, J. (2002) · Vision Research · doi:10.1016/s0042-6989(01)00195-x · Cited by 71 · see citing works
AAV-mediated transduction and targeting of retinal bipolar cells with improved mGluR6 promoters in rodents and primates
Lu, Q., Ganjawala, T. H., Ivanova, E., Cheng, J. G., Troilo, D., & Pan, Z.-H. (2016) · Gene Therapy · doi:10.1038/gt.2016.42 · Cited by 70 · see citing works
Therapeutic Challenges to Retinitis Pigmentosa: From Neuroprotection to Gene Therapy
Sahni, J., Angi, M., Irigoyen, C., Angi, M., Semeraro, F., Romano, M., Parmeggiani, F., & Parmeggiani, F. (2011) · Current Genomics · doi:10.2174/138920211795860062 · Cited by 69 · see citing works
Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutation
Ameri, H. (2018) · Journal of Current Ophthalmology · doi:10.1016/j.joco.2018.01.006 · Cited by 69 · see citing works
Self-citation
Intercellular Trafficking of Adenovirus-Delivered HSV VP22 from the Retinal Pigment Epithelium to the Photoreceptors—Implications for Gene Therapy
Cashman, S. M., Sadowski, S. L., Morris, D. J., Frederick, J. M., & Kumar‐Singh, R. (2002) · Molecular Therapy · doi:10.1006/mthe.2002.0806 · Cited by 68 · see citing works
Long-term Preservation of Cone Photoreceptors and Restoration of Cone Function by Gene Therapy in the Guanylate Cyclase-1 Knockout (GC1KO) Mouse
Boye, S. L., Conlon, T. J., Erger, K. E., Ryals, R. C., Neeley, A. W., Cossette, T. L., Pang, J., Dyka, F. M., Hauswirth, W. W., & Boye, S. L. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-7867 · Cited by 63 · see citing works
Cell-penetrating peptide (CPP)-conjugated proteins is an efficient tool for manipulation of human mesenchymal stromal cells
Jo, J., Hong, S., Choi, W. Y., & Lee, D. R. (2014) · Scientific Reports · doi:10.1038/srep04378 · Cited by 63 · see citing works
Changes in adeno-associated virus-mediated gene delivery in retinal degeneration
Kolstad, K. D., Dalkara, D., Guerin, K., Visel, M., Hoffmann, N., Schaffer, D. V., & Flannery, J. G. (2010) · Human Gene Therapy · doi:10.1089/hum.2009.194 · Cited by 63 · see citing works
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review
Smith, J. D., Ward, D. J., Michaelides, M., Moore, A. T., & Simpson, S. (2015) · Eye · doi:10.1038/eye.2015.115 · Cited by 62 · see citing works
Gene and mutation independent therapy via CRISPR-Cas9 mediated cellular reprogramming in rod photoreceptors
Zhu, J., Ming, C., Fu, X., Duan, Y., Hoang, D. A., Rutgard, J., Zhang, R., Wang, W., Hou, R., Zhang, D., et al. (2017) · Cell Research · doi:10.1038/cr.2017.57 · Cited by 62 · see citing works
Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model
Apaolaza, P. S., del Pozo‐Rodríguez, A., Torrecilla, J., Rodríguez‐Gascón, A., Rodríguez, J. M., Friedrich, U., Weber, B. H. F., & Solinís, M. Á. (2015) · Journal of Controlled Release · doi:10.1016/j.jconrel.2015.09.033 · Cited by 59 · see citing works
Dystrophin Expression in Muscle Following Gene Transfer with a Fully Deleted ("Gutted") Adenovirus Is Markedly Improved by Trans-Acting Adenoviral Gene Products
Gilbert, R., Nalbantoglu, J. N., Howell, J. M., et al. (2001) · Human Gene Therapy · doi:10.1089/104303401750476249 · Cited by 59 · see citing works
Helper-Dependent Adenovirus for the Gene Therapy of Proliferative Retinopathies: Stable Gene Transfer, Regulated Gene Expression and Therapeutic Efficacy
Lamartina, S., Cimino, M., Roscilli, G., Dammassa, E., Lazzaro, D., Rota, R., Ciliberto, G., & Toniatti, C. (2007) · The Journal of Gene Medicine · doi:10.1002/jgm.1083 · Cited by 59 · see citing works
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Bravo‐Gil, N., Méndez‐Vidal, C., Romero‐Pérez, L., Pozo, M. G., Rodríguez-de-la-Rúa-Franch, E., Dopazo, J., Borrego, S., & Antiñolo, G. (2016) · Scientific Reports · doi:10.1038/srep23910 · Cited by 59 · see citing works
Evidence of protein transduction but not intercellular transport by proteins fused to HIV tat in retinal cell culture and in vivo
Cashman, S. M., Morris, D. J., & Kumar‐Singh, R. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00131-x · Cited by 57 · see citing works
Cell-Specific Promoters Enable Lipid-Based Nanoparticles to Deliver Genes to Specific Cells of the Retina In Vivo
Wang, Y., Rajala, A., Cao, B., Ranjo‐Bishop, M., Agbaga, M., Mao, C., & Rajala, R. V. S. (2016) · Theranostics · doi:10.7150/thno.15230 · Cited by 56 · see citing works
Genomic Disruption of VEGF-A Expression in Human Retinal Pigment Epithelial Cells Using CRISPR-Cas9 Endonuclease
Yiu, G. C., Tieu, E., Nguyen, A. T., Wong, B. M., & Smit‐McBride, Z. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20296 · Cited by 55 · see citing works
Opsin localization and rhodopsin photochemistry in a transgenic mouse model of retinitis pigmentosa
Wu, T., Ting, T. D., Okajima, T. I. L., Pepperberg, D. R., Ho, Y.-K., Ripps, H., & Naash, M. I. (1998) · Neuroscience · doi:10.1016/s0306-4522(98)00173-0 · Cited by 53 · see citing works
Engineering altered protein–DNA recognition specificity
Bogdanove, A. J., Bohm, A., Miller, J. C., Morgan, R., & Stoddard, B. L. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky289 · Cited by 53 · see citing works
Haploinsufficiency predictions without study bias
Steinberg, J., Honti, F., Meader, S., & Webber, C. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv474 · Cited by 52 · see citing works
Gene Therapy of Inherited Retinal Degenerations: Prospects and Challenges
Trapani, I., Banfi, S., Simonelli, F., Surace, E. M., & Auricchio, A. (2015) · Human Gene Therapy · doi:10.1089/hum.2015.030 · Cited by 46 · see citing works
Endocytosis and degradation of interstitial retinol-binding protein: Differential capabilities of cells that border the interphotoreceptor matrix
Hollyfield, J. G., Varner, H. H., Rayborn, M. E., Liou, G. I., & Bridges, C. D. (1985) · The Journal of cell biology · doi:10.1083/jcb.100.5.1676 · Cited by 45 · see citing works
AAV-Mediated Gene Replacement, Either Alone or in Combination with Physical and Pharmacological Agents, Results in Partial and Transient Protection from Photoreceptor Degeneration Associated with βPDE Deficiency
Allocca, M., Manfredi, A., Iodice, C., Vicino, U. D., & Auricchio, A. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6269 · Cited by 43 · see citing works
Molecular and Biochemical Characterization of Folate Transport Proteins in Retinal Müller Cells
Bozard, B. R., Ganapathy, P. S., Duplantier, J., Mysona, B. A., Ha, Y., Roon, P., Smith, R. M., Goldman, I. D., Prasad, P. D., Martin, P. M., et al. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4833 · Cited by 42 · see citing works
AAV-Mediated Gene Therapy for Retinal Disorders in Large Animal Models
Stieger, K., Lhériteau, E., Moullier, P., & Rolling, F. (2009) · ILAR Journal · doi:10.1093/ilar.50.2.206 · Cited by 37 · see citing works
The TAT Protein Transduction Domain Enhances the Neuroprotective Effect of Glial-Cell-Line-Derived Neurotrophic Factor after Optic Nerve Transection
Kılıç, Ü., Kılıç, E., Dietz, G. P. H., et al. (2004) · Neurodegenerative Diseases · doi:10.1159/000076669 · Cited by 36 · see citing works
Retinal Gene Delivery by rAAV and DNA Electroporation
Venkatesh, A., Ma, S., Langellotto, F., Gao, G., & Punzo, C. (2013) · Current Protocols in Microbiology · doi:10.1002/9780471729259.mc14d04s28 · Cited by 35 · see citing works
Efficient mutagenesis of the rhodopsin gene in rod photoreceptor neurons in mice
Chan, F., Hauswirth, W. W., Wensel, T. G., & Wilson, J. H. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr196 · Cited by 30 · see citing works
Endocytosis in the inner segment of rod photoreceptors: Analysis of Xenopus laevis retinas using horseradish peroxidase
Hollyfield, J. G., & Rayborn, M. E. (1987) · Experimental Eye Research · doi:10.1016/s0014-4835(87)80119-7 · Cited by 25 · see citing works
Gene Delivery to the Retina Using Lentiviral Vectors
Greenberg, K. P., Lee, E. S., Schaffer, D. V., & Flannery, J. G. (2007) · Springer eBooks · doi:10.1007/0-387-32442-9_36 · Cited by 24 · see citing works
Exploiting Natural Diversity of AAV for the Design of Vectors with Novel Properties
Gao, G., Li, Z., & Danos, O. (2011) · Methods in molecular biology · doi:10.1007/978-1-61779-370-7_4 · Cited by 22 · see citing works
Methods to follow intracellular trafficking of cell-penetrating peptides
Pärnaste, L., Arukuusk, P., Zagato, E., et al. (2015) · Journal of drug targeting · doi:10.3109/1061186x.2015.1095194 · Cited by 19 · see citing works
Gene Therapy for Age-Related Macular Degeneration
Constable, I. J., Blumenkranz, M. S., Schwartz, S. D., Barone, S. B., Lai, C., & Rakoczy, E. P. (2016) · Asia-Pacific Journal of Ophthalmology · doi:10.1097/apo.0000000000000222 · Cited by 19 · see citing works
Mannose-sensitive HRP endocytosis by the retinal pigment epithelium
Heth, C. A., & Bernstein, M. H. (1991) · Experimental Eye Research · doi:10.1016/0014-4835(91)90130-7 · Cited by 18 · see citing works
Genome-wide haploinsufficiency screen reveals a novel role for γ-TuSC in spindle organization and genome stability
Choy, J. S., O'Toole, E. T., Schuster, B. M., Crisp, M. J., Karpova, T., McNally, J. G., Winey, M., Gardner, M. K., & Basrai, M. A. (2013) · Molecular Biology of the Cell · doi:10.1091/mbc.e12-12-0902 · Cited by 16 · see citing works
G-quartet oligonucleotide mediated delivery of proteins into photoreceptors and retinal pigment epithelium via intravitreal injection
Leaderer, D., Cashman, S., & Kumar-Singh, R. (2016) · Experimental Eye Research · doi:10.1016/j.exer.2016.02.009 · Cited by 12 · see citing works
Erratum: Photoreceptor-targeted gene delivery using intravitreally administered AAV vectors in dogs
Boyd, R. F., Sledge, D. G., Boye, S. L., Boye, S. L., Hauswirth, W. W., Komáromy, A. M., Petersen‐Jones, S. M., & Bartoe, J. T. (2016) · Gene Therapy · doi:10.1038/gt.2016.10 · Cited by 11 · see citing works

Flagged first, then by citations

Sorted by citations

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
Garafalo, A. V., Cideciyan, A. V., Héon, E., Sheplock, R., Pearson, A., WeiYang Yu, C., Sumaroka, A., Aguirre, G. D., & Jacobson, S. G. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100827 · Cited by 173 · see citing works
Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges
Vázquez-Domínguez, I., Garanto, A., & Collin, R. W. J. (2019) · Genes · doi:10.3390/genes10090654 · Cited by 80 · 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
Feasibility of direct vitrectomy-sparing subretinal injection for gene delivery in large animals
Stranak, Z., Ardan, T., Nemesh, Y., Toms, M., Toualbi, L., Harbottle, R., Ellederova, Z., Lytvynchuk, L., Petrovski, G., Motlik, J., et al. (2024) · Current Eye Research · doi:10.1080/02713683.2024.2343335 · Cited by 7 · see citing works

Preclinical dose response study shows NR2E3 can attenuate retinal degeneration in the retinitis pigmentosa mouse model RhoP23H+/−
McNamee, S. M., Chan, N. P., Akula, M., Avola, M. O., Whalen, M., Nystuen, K., Singh, P., Upadhyay, A. K., DeAngelis, M. M., & Haider, N. B. (2024) · Gene Therapy · doi:10.1038/s41434-024-00440-6 · Cited by 10 · see citing works
Does Background Matter? A Comparative Characterization of Mouse Models of Autosomal Retinitis Pigmentosa rd1 and Pde6b-KO
Chirinskaite, A. V., Rotov, A. Y., Ermolaeva, M. E., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242417180 · Cited by 4 · see citing works
The Severity of Retinal Degeneration in Rp1h Gene-Targeted Mice Is Dependent on Genetic Background
Liu, Q., Saveliev, A., & Pierce, E. A. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-2776 · Cited by 20 · see citing works
The bacterial toxin CNF1 as a tool to induce retinal degeneration reminiscent of retinitis pigmentosa
Guadagni, V., Cerri, C., Piano, I., Novelli, E., Gargini, C., Fiorentini, C., Caleo, M., & Strettoi, E. (2016) · Scientific Reports · doi:10.1038/srep35919 · Cited by 5 · see citing works
Increasing the efficiency of CRISPR‐Cas9‐VQR precise genome editing in rice
Hu, X., Meng, X., Liu, Q., Li, J., & Wang, K. (2017) · Plant Biotechnology Journal · doi:10.1111/pbi.12771 · Cited by 95 · see citing works

Authors: Arbabi, A., Liu, A., & Ameri, H.
Affiliations: University of Southern California (US)
Corresponding author: Ameri, Hossein
ORCID: Ameri, Hossein
Venue: Journal of Ocular Pharmacology and Therapeutics
Publisher: SAGE Publications
Published: 2019-03-01
Volume: 35
Issue: 2
Pages: 79-97
ISSN: 1080-7683 (ISSN-L)
1557-7732
DOI: 10.1089/jop.2018.0087
OpenAlex: W2914857800
Cited by: 30
References: 191
Citations by year: 2026: 3 · 2025: 3 · 2024: 3 · 2023: 5 · 2022: 5 · 2021: 3 · 2020: 4 · 2019: 4
FWCI: 0.35
Type: journal article
Language: en
Open access: closed
Licence: journals.sagepub.com/page/policies/text-and-data-mining-license (tdm)
Locations: Journal of Ocular Pharmacology and Therapeutics (publishedVersion)
PubMed (publishedVersion)
Funders: Research to Prevent Blindness
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
Keywords: inherited retinal degeneration, gene therapy, gene augmentation, gene disruption, viral vectors, non-viral vectors, CRISPR gene editing, haploinsufficiency, dominant negative mutation, gain-of-function mutations, photoreceptor loss
MeSH terms: Gene Editing, Genetic Vectors, Humans, Retinal Degeneration, Genetic Therapy, Photoreceptor Cells, Vertebrate, CRISPR-Cas Systems

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Gene Therapy for Inherited Retinal Degeneration

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks