Gene therapy for retinal disease

Efficient selection for high-expression transfectants with a novel eukaryotic vector

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Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

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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

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

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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

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

D'Cruz, P. M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.645 · Cited by 869 · see citing works

Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase

Rickman, C. B., Li, T., Danciger, M., Baxter, L. C., Applebury, M., & Farber, D. B. (1990) · Nature · doi:10.1038/347677a0 · Cited by 852 · see citing works

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62117-0 · Cited by 796 · see citing works

Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors

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Cd8(+) T-Cell Responses to Adeno-Associated Virus Capsid in Humans

Mingozzi, F., Maus, M. V., Hui, D. J., Sabatino, D. E., Murphy, S. L., Rasko, J. E. J., Ragni, M. V., Manno, C. S., Sommer, J., Jiang, H., et al. (2007) · Nature Medicine · doi:10.1038/nm1549 · Cited by 748 · see citing works

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

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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

Quantitative analysis of the packaging capacity of recombinant adeno-associated virus

Dong, J.-Y., Fan, P.-D., & Frizzell, R. A. (1996) · Human Gene Therapy · doi:10.1089/hum.1996.7.17-2101 · Cited by 583 · see citing works

Next generation of adeno-associated virus 2 vectors: Point mutations in tyrosines lead to high-efficiency transduction at lower doses

Zhong, L., Li, B., Mah, C. S., Govindasamy, L., Agbandje-McKenna, M., Cooper, M., Herzog, R. W., Zolotukhin, I., Warrington, K. H., Weigel-Van Aken, K. A., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802866105 · Cited by 558 · see citing works

Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo

McCarty, D. M., Fu, H., Monahan, P. E., Toulson, C. E., Naik, P., & Samulski, R. J. (2003) · Gene Therapy · doi:10.1038/sj.gt.3302134 · Cited by 547 · see citing works

Transduction with recombinant adeno-associated virus for gene therapy is limited by leading-strand synthesis

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Constitutively active mutants of rhodopsin

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The vitelliform macular dystrophy protein defines a new family of chloride channels

Sun, H., Tsunenari, T., Yau, K., & Nathans, J. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.052692999 · Cited by 471 · see citing works

Expression vector system based on the chicken β-actin promoter directs efficient production of interleukin-5

Miyazaki, J., Τακακι, S., Araki, K., Tashiro, F., Tominaga, A., Takatsu, K., & Yamamura, K. (1989) · Gene · doi:10.1016/0378-1119(89)90209-6 · Cited by 446 · see citing works

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

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Identification and characterization of rod-derived cone viability factor

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Packaging Capacity of Adeno-Associated Virus Serotypes: Impact of Larger Genomes on Infectivity and Postentry Steps

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Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle

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Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa

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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

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

Rapid Uncoating of Vector Genomes Is the Key toEfficient Liver Transduction with Pseudotyped Adeno-Associated VirusVectors

Thomas, C. E., Storm, T. A., Huang, Z., & Kay, M. A. (2004) · Journal of Virology · doi:10.1128/jvi.78.6.3110-3122.2004 · Cited by 358 · see citing works

A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

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Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S. G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L. T., & Wissinger, B. (1998) · Nature Genetics · doi:10.1038/935 · Cited by 340 · see citing works

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Maugeri, A., Klevering, B. J., Rohrschneider, K., Blankenagel, A., Brunner, H. G., Deutman, A. F., Hoyng, C. B., & Cremers, F. P. M. (2000) · The American Journal of Human Genetics · doi:10.1086/303079 · Cited by 329 · see citing works

Rhodopsin and phototransduction: a model system for G protein‐linked receptors

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Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosa

Maw, M. A., Kennedy, B. N., Knight, A., Bridges, R., Roth, K. E., Mani, E. J., Mukkadan, J. K., Nancarrow, D. J., Crabb, J. W., & Denton, M. J. (1997) · Nature Genetics · doi:10.1038/ng1097-198 · Cited by 327 · see citing works

Immune Responses to AAV in Clinical Trials

Mingozzi, F., & A. High, K. (2011) · Current Gene Therapy · doi:10.2174/156652311796150354 · Cited by 324 · see citing works

A Rhodopsin Mutant Linked to Autosomal Dominant Retinitis Pigmentosa Is Prone to Aggregate and Interacts with the Ubiquitin Proteasome System

Illing, M., Rajan, R. S., Bence, N., & Kopito, R. R. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m204955200 · Cited by 311 · see citing works

Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy

Yan, Z., Zhang, Y., Duan, D., & Engelhardt, J. F. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.12.6716 · Cited by 305 · see citing works

Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice

Allocca, M., Doria, M., Petrillo, M., Colella, P., Garcia-Hoyos, M., Gibbs, D., Kim, S. R., Maguire, A., Rex, T. S., Di Vicino, U., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34316 · Cited by 292 · see citing works

Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of <i>Mertk</i>

Vollrath, D., Feng, W., Duncan, J. L., Yasumura, D., D'Cruz, P. M., Chappelow, A., Matthes, M. T., Kay, M. A., & LaVail, M. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.221364198 · Cited by 290 · see citing works

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Dryja, T. P., Adams, S. M., Grimsby, J., McGee, T. L., Hong, D.-H., Li, T., Andréasson, S., & Berson, E. L. (2001) · The American Journal of Human Genetics · doi:10.1086/320113 · Cited by 284 · see citing works

Virally delivered Channelrhodopsin-2 Safely and Effectively Restores Visual Function in Multiple Mouse Models of Blindness

Doroudchi, M. M., Greenberg, K. P., Liu, J., Silka, K. A., Boyden, E. S., Lockridge, J. A., Arman, A. C., Ramesh, J., Boye, S. L., Boye, S. L., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2011.69 · Cited by 274 · 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

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

Cideciyan, A. V., Alemán, T. S., Świder, M., Schwartz, S., Steinberg, J. D., Brucker, A. J., Maguire, A. M., Bennett, J., Stone, E. M., & Jacobson, S. G. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh048 · Cited by 268 · see citing works

Overcoming adeno-associated virus vector size limitation through viral DNA heterodimerization

Sun, L., Li, J., & Xiao, X. (2000) · Nature Medicine · doi:10.1038/75087 · 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

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadalà, M., Jacobson, S. G., & Wissinger, B. (2002) · The American Journal of Human Genetics · doi:10.1086/341835 · Cited by 265 · see citing works

Gene therapy rescues cone function in congenital achromatopsia

Komáromy, A. M., Alexander, J. J., Rowlan, J. S., Garcia, M. M., Chiodo, V. A., Kaya, A., Tanaka, J. C., Acland, G. M., Hauswirth, W. W., & Aguirre, G. D. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq136 · Cited by 264 · see citing works

Expanding AAV Packaging Capacity with Trans-splicing or Overlapping Vectors: A Quantitative Comparison

Duan, D., Yue, Y., & Engelhardt, J. F. (2001) · Molecular Therapy · doi:10.1006/mthe.2001.0456 · Cited by 262 · see citing works

Gene transfer into the mouse retina mediated by an adeno-associated viral vector

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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

Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina

Bennett, J., Maguire, A. M., Cideciyan, A. V., Schnell, M. A., Glover, E., Anand, V., Alemán, T. S., Chirmule, N. B., Gupta, A. R., Huang, Y., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.17.9920 · Cited by 242 · see citing works

Immune Responses to AAV in Clinical Trials

Mingozzi, F., & High, K. A. (2007) · Current Gene Therapy · doi:10.2174/156652307782151425 · Cited by 238 · see citing works

Progressive Cone and Cone-Rod Dystrophies: Phenotypes and Underlying Molecular Genetic Basis

Michaelides, M., Hardcastle, A. J., Hunt, D. M., & Moore, A. T. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2006.02.007 · Cited by 229 · see citing works

Molecular Genetics of Human Retinal Disease

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Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors

Lai, Y., Yue, Y., Liu, M., Ghosh, A., Engelhardt, J. F., Chamberlain, J. S., & Duan, D. (2005) · Nature Biotechnology · doi:10.1038/nbt1153 · Cited by 224 · see citing works

Ubiquitination of both adeno-associated virus type 2 and 5 capsid proteins affects the transduction efficiency of recombinant vectors

Yan, Z., Zak, R., Luxton, G. W. G., Ritchie, T. C., Bantel-Schaal, U., & Engelhardt, J. F. (2002) · Journal of Virology · doi:10.1128/jvi.76.5.2043-2053.2002 · Cited by 222 · see citing works

Long-Term Protection of Retinal Structure but Not Function Using RAAV.CNTF in Animal Models of Retinitis Pigmentosa

Liang, F.-Q., Alemán, T. S., Dejneka, N. S., Dudus, L., Fisher, K. J., Maguire, A. M., Jacobson, S. G., & Bennett, J. (2001) · Molecular Therapy · doi:10.1006/mthe.2001.0473 · Cited by 221 · see citing works

Restoration of cone vision in a mouse model of achromatopsia

Alexander, J. J., Umino, Y., Everhart, D., Chang, B., Min, S.-H., Li, Q., Timmers, A. M., Hawes, N. L., Pang, J., Barlow, R. B., et al. (2007) · Nature Medicine · doi:10.1038/nm1596 · Cited by 218 · 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 216 · see citing works

AAV Capsid Structure and Cell Interactions

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The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis

Zhao, Y., Hong, D.-H., Pawlyk, B. S., Yue, G., Adamian, M., Grynberg, M., Godzik, A., & Li, T. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0637349100 · Cited by 214 · see citing works

Effects of Adeno-associated Virus-vectored Ciliary Neurotrophic Factor on Retinal Structure and Function in Mice with a P216L rds/peripherin Mutation

Bok, D., Yasumura, D., Matthes, M. T., Ruíz, A., Duncan, J. L., Chappelow, A. V., Zolutukhin, S., Hauswirth, W. W., & LaVail, M. M. (2002) · Experimental Eye Research · doi:10.1006/exer.2002.1176 · Cited by 213 · see citing works

Intravitreal injection of AAV2 transduces macaque inner retina

Yin, L., Greenberg, K., Hunter, J. J., Dalkara, D., Kolstad, K. D., Masella, B. D., Wolfe, R., Visel, M., Stone, D., Libby, R. T., et al. (2011) · Investigative Opthalmology &amp; Visual Science · doi:10.1167/iovs.10-6250 · Cited by 212 · 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

Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

Meur, G. L., Stieger, K., Smith, A. J., Weber, M., Deschamps, J., Nivard, D., Mendes-Madeira, A., Provost, N., Péréon, Y., Chérel, Y., et al. (2006) · Gene Therapy · doi:10.1038/sj.gt.3302861 · Cited by 207 · see citing works

Increasing the size of rAAV-mediated expression cassettes in vivo by intermolecular joining of two complementary vectors

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Recombinant adeno-associated virus serotype 4 mediates unique and exclusive long-term transduction of retinal pigmented epithelium in rat, dog, and nonhuman primate after subretinal delivery

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Virus-Mediated Transduction of Murine Retina with Adeno-Associated Virus: Effects of Viral Capsid and Genome Size

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Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

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Glial Cell Line Derived Neurotrophic Factor Delays Photoreceptor Degeneration in a Transgenic Rat Model of Retinitis Pigmentosa

Sanftner, L. H. M., Abel, H., Hauswirth, W. W., & Flannery, J. G. (2001) · Molecular Therapy · doi:10.1006/mthe.2001.0498 · Cited by 187 · see citing works

Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function

Michalakis, S., Mühlfriedel, R. L., Tanimoto, N., Krishnamoorthy, V., Koch, S., Fischer, M. D., Bećirović, E., Bai, L., Huber, G., Beck, S. C., et al. (2010) · Molecular Therapy · doi:10.1038/mt.2010.149 · Cited by 186 · 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

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

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Characteristics of Photoreceptor PDE (PDE6): similarities and differences to PDE5

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Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

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Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations

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A hybrid vector system expands adeno-associated viral vector packaging capacity in a transgene-independent manner

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Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

Sohocki, M. M., Perrault, I., Leroy, B. P., Payne, A. M., Dharmaraj, S., Bhattacharya, S. S., Kaplan, J., Maumenee, I. H., Koenekoop, R. K., Meire, F. M., et al. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3001 · Cited by 161 · see citing works

Multiparameter RNA and Codon Optimization: A Standardized Tool to Assess and Enhance Autologous Mammalian Gene Expression

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DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice

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Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa

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