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This paper, and the next four papers, describe the first successful use of recombinant AAV2 vectors to achieve clinical efficacy in Phase I trials in patients with Leber's congenital amaurosis.
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2•• Bainbridge, J.W., Smith, A.J., Barker, S.S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G.E., Stockman, A., Tyler, N., Petersen-Jones, S., et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358 (2008), 2231–2239 This paper, and the next four papers, describe the first successful use of recombinant AAV2 vectors to achieve clinical efficacy in Phase I trials in patients with Leber's congenital amaurosis.
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3 Cideciyan, A.V., Aleman, T.S., Boye, S.L., Schwartz, S.B., Kaushal, S., Roman, A.J., Pang, J.J., Sumaroka, A., Windsor, E.A., Wilson, J.M., Flotte, T.R., et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A 105 (2008), 15112–15117.
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4
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Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase i trial
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4 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., Jacobson, S.G., Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase i trial. Hum Gene Ther 19 (2008), 979–990.
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5
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Safety and efficacy of gene transfer for Leber's congenital amaurosis
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5 Maguire, A.M., Simonelli, F., Pierce, E.A., Pugh, E.N. Jr., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K.A., Testa, F., Surace, E.M., Rossi, S., et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 358 (2008), 2240–2248.
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6
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This paper describes the first successful use of recombinant AAV8 vectors to achieve clinical efficacy in a Phase I trial in patients with hemophilia B.
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6•• Nathwani, A.C., Tuddenham, E.G., Rangarajan, S., Rosales, C., McIntosh, J., Linch, D.C., Chowdary, P., Riddell, A., Pie, A.J., Harrington, C., O'Beirne, J., et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365 (2011), 2357–2365 This paper describes the first successful use of recombinant AAV8 vectors to achieve clinical efficacy in a Phase I trial in patients with hemophilia B.
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7 Hwu, W.L., Muramatsu, S., Tseng, S.H., Tzen, K.Y., Lee, N.C., Chien, Y.H., Snyder, R.O., Byrne, B.J., Tai, C.H., Wu, R.M., Gene therapy for aromatic l-amino acid decarboxylase deficiency. Sci Transl Med, 4, 2012, 134ra161.
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Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447x) gene therapy for lipoprotein lipase deficiency: an open-label trial
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8 Gaudet, D., Methot, J., Dery, S., Brisson, D., Essiembre, C., Tremblay, G., Tremblay, K., de Wal, J., Twisk, J., van den Bulk, N., Sier-Ferreira, V., et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447x) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther 20 (2013), 361–369.
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9
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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
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9 MacLaren, R.E., Groppe, M., Barnard, A.R., Cottriall, C.L., Tolmachova, T., Seymour, L., Clark, K.R., During, M.J., Cremers, F.P., Black, G.C., Lotery, A.J., et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet 383 (2014), 1129–1137.
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Gene therapy for leber hereditary optic neuropathy: initial results
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This paper describes the results of the first human clinical trial with capsid-modified AAV2 vectors.
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10• 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., Gene therapy for leber hereditary optic neuropathy: initial results. Ophthalmology 123 (2016), 558–570 This paper describes the results of the first human clinical trial with capsid-modified AAV2 vectors.
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Differential expression in human cells from the p6 promoter of human parvovirus B19 following plasmid transfection and recombinant adeno-associated virus 2 (AAV) infection: human megakaryocytic leukaemia cells are non-permissive for AAV infection
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This paper describes the first human cell line that could not be infected by AAV2, or transduced by recombinant AAV2 vectors, suggesting for the first time that AAV2 infection of human cells was receptor-mediated.
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11• Ponnazhagan, S., Wang, X.S., Woody, M.J., Luo, F., Kang, L.Y., Nallari, M.L., Munshi, N.C., Zhou, S.Z., Srivastava, A., Differential expression in human cells from the p6 promoter of human parvovirus B19 following plasmid transfection and recombinant adeno-associated virus 2 (AAV) infection: human megakaryocytic leukaemia cells are non-permissive for AAV infection. J Gen Virol 77:Pt 6 (1996), 1111–1122 This paper describes the first human cell line that could not be infected by AAV2, or transduced by recombinant AAV2 vectors, suggesting for the first time that AAV2 infection of human cells was receptor-mediated.
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Adeno-associated virus type 2 binds to a 150-kilodalton cell membrane glycoprotein
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This paper describes the identification of the first cellular receptor for AAV2.
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13• Summerford, C., Samulski, R.J., Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions. J Virol 72 (1998), 1438–1445 This paper describes the identification of the first cellular receptor for AAV2.
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This paper describes the first use of recombinant AAV2 vectors in a Phase I clinical trial in patients with cystic fibrosis. This trial established the safety of recombinant AAV2 vectors in humans.
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14• Flotte, T., Carter, B., Conrad, C., Guggino, W., Reynolds, T., Rosenstein, B., Taylor, G., Walden, S., Wetzel, R., A phase I study of an adeno-associated virus-CFTR gene vector in adult CF patients with mild lung disease. Hum Gene Ther 7 (1996), 1145–1159 This paper describes the first use of recombinant AAV2 vectors in a Phase I clinical trial in patients with cystic fibrosis. This trial established the safety of recombinant AAV2 vectors in humans.
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15 Duan, D., Yue, Y., Yan, Z., McCray, P.B. Jr., Engelhardt, J.F., Polarity influences the efficiency of recombinant adenoassociated virus infection in differentiated airway epithelia. Hum Gene Ther 9 (1998), 2761–2776.
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Human fibroblast growth factor receptor 1 is a co-receptor for infection by adeno-associated virus 2
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This paper describes the identification of the first cellular co-receptor for AAV2.
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16• Qing, K., Mah, C., Hansen, J., Zhou, S., Dwarki, V., Srivastava, A., Human fibroblast growth factor receptor 1 is a co-receptor for infection by adeno-associated virus 2. Nat Med 5 (1999), 71–77 This paper describes the identification of the first cellular co-receptor for AAV2.
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17 Summerford, C., Bartlett, J.S., Samulski, R.J., AlphaVbeta5 integrin: a co-receptor for adeno-associated virus type 2 infection. Nat Med 5 (1999), 78–82.
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18 Chen, C.L., Jensen, R.L., Schnepp, B.C., Connell, M.J., Shell, R., Sferra, T.J., Bartlett, J.S., Clark, K.R., Johnson, P.R., Molecular characterization of adeno-associated viruses infecting children. J Virol 79 (2005), 14781–14792.
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Custom adeno-associated virus capsids: the next generation of recombinant vectors with novel tropism
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19 Muzyczka, N., Warrington, K.H. Jr., Custom adeno-associated virus capsids: the next generation of recombinant vectors with novel tropism. Hum Gene Ther 16 (2005), 408–416.
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Muzyczka, N.1
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The impact of heparan sulfate binding on transduction of retina by rAAV vectors
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20 Boye, S.L., Bennett, A., Scalabrino, M.L., McCullough, K.T., Van Vliet, K., Choudhury, S., Ruan, Q., Peterson, J., Agbandje-McKenna, M., Boye, S.E., The impact of heparan sulfate binding on transduction of retina by rAAV vectors. J Virol, 2016.
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Boye, S.L.1
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21 Kashiwakura, Y., Tamayose, K., Iwabuchi, K., Hirai, Y., Shimada, T., Matsumoto, K., Nakamura, T., Watanabe, M., Oshimi, K., Daida, H., Hepatocyte growth factor receptor is a coreceptor for adeno-associated virus type 2 infection. J Virol 79 (2005), 609–614.
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22 Asokan, A., Hamra, J.B., Govindasamy, L., Agbandje-McKenna, M., Samulski, R.J., Adeno-associated virus type 2 contains an integrin alpha5beta1 binding domain essential for viral cell entry. J Virol 80 (2006), 8961–8969.
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23 Akache, B., Grimm, D., Pandey, K., Yant, S.R., Xu, H., Kay, M.A., The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9. J Virol 80 (2006), 9831–9836.
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24 Kurzeder, C., Koppold, B., Sauer, G., Pabst, S., Kreienberg, R., Deissler, H., CD9 promotes adeno-associated virus type 2 infection of mammary carcinoma cells with low cell surface expression of heparan sulphate proteoglycans. Int J Mol Med 19 (2007), 325–333.
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27 Chiorini, J.A., Yang, L., Liu, Y., Safer, B., Kotin, R.M., Cloning of adeno-associated virus type 4 (AAV4) and generation of recombinant aav4 particles. J Virol 71 (1997), 6823–6833.
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28 Bantel-Schaal, U., Delius, H., Schmidt, R., zur Hausen, H., Human adeno-associated virus type 5 is only distantly related to other known primate helper-dependent parvoviruses. J Virol 73 (1999), 939–947.
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29 Rutledge, E.A., Halbert, C.L., Russell, D.W., Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than aav type 2. J Virol 72 (1998), 309–319.
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32 Schmidt, M., Voutetakis, A., Afione, S., Zheng, C., Mandikian, D., Chiorini, J.A., Adeno-associated virus type 12 (AAV12): a novel aav serotype with sialic acid- and heparan sulfate proteoglycan-independent transduction activity. J Virol 82 (2008), 1399–1406.
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33 Schmidt, M., Govindasamy, L., Afione, S., Kaludov, N., Agbandje-McKenna, M., Chiorini, J.A., Molecular characterization of the heparin-dependent transduction domain on the capsid of a novel adeno-associated virus isolate, AAV(VR-942). J Virol 82 (2008), 8911–8916.
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