Clinical applications of retinal gene therapy

Progress in Retinal and Eye Research

Volumn 32, Issue 1, 2013, Pages 22-47

  Lipinski, Daniel M ^a   Thake, Miriam ^a   MacLaren, Robert E ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

AAV; Adeno associated virus; Clinical trial; Gene therapy; LCA; NV AMD; RP

Indexed keywords

ADENOVIRUS VECTOR; LENTIVIRUS VECTOR; PARVOVIRUS VECTOR;

ADENO ASSOCIATED VIRUS; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CHOROIDEREMIA; CLINICAL TRIAL (TOPIC); COLOR BLINDNESS; GENE EXPRESSION REGULATION; GENE THERAPY; HUMAN; LEBER CONGENITAL AMAUROSIS; NONHUMAN; NONVIRAL GENE THERAPY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINA DISEASE; RETINA MACULA AGE RELATED DEGENERATION; RETINITIS PIGMENTOSA; REVIEW; STARGARDT DISEASE; USHER SYNDROME; VIRAL GENE THERAPY; X CHROMOSOME LINKED DISORDER;

GENE TRANSFER TECHNIQUES; GENETIC THERAPY; HUMANS; RETINAL DISEASES;

EID: 84871388247     PISSN: 13509462     EISSN: 18731635     Source Type: Journal    
DOI: 10.1016/j.preteyeres.2012.09.001     Document Type: Review

References (284)

1. 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., Jacobson S.G., Hauswirth W.W., Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet. 2001, 28:92-95.
2. Acland G.M., Aguirre G.D., Bennett J., Aleman T.S., Cideciyan A.V., Bennicelli J., Dejneka N.S., Pearce-Kelling S.E., Maguire A.M., Palczewski K., Hauswirth W.W., Jacobson S.G. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol. Ther. 2005, 12:1072-1082.
3. Aguirre G.D., Baldwin V., Pearce-Kelling S., Narfstrom K., Ray K., Acland G.M. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol. Vis. 1998, 4:23.
4. 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. 2006, 80:9831-9836.
5. Al-Dosari M., Zhang G., Knapp J.E., Liu D. Evaluation of viral and mammalian promoters for driving transgene expression in mouse liver. Biochem. Biophys. Res. Commun. 2006, 339:673-678.
6. Alexander J.J., Umino Y., Everhart D., Chang B., Min S.H., Li Q., Timmers A.M., Hawes N.L., Pang J.J., Barlow R.B., Hauswirth W.W. Restoration of cone vision in a mouse model of achromatopsia. Nat. Med. 2007, 13:685-687.
7. Ali R.R., Reichel M.B., Thrasher A.J., Levinsky R.J., Kinnon C., Kanuga N., Hunt D.M., Bhattacharya S.S. Gene transfer into the mouse retina mediated by an adeno-associated viral vector. Hum. Mol. Genet. 1996, 5:591-594.
8. Ali R.R., Reichel M.B., De Alwis M., Kanuga N., Kinnon C., Levinsky R.J., Hunt D.M., Bhattacharya S.S., Thrasher A.J. Adeno-associated virus gene transfer to mouse retina. Hum. Gene Ther. 1998, 9:81-86.
9. Allocca M., Doria M., Petrillo M., Colella P., Garcia-Hoyos M., Gibbs D., Kim S.R., Maguire A., Rex T.S., Di Vicino U., Cutillo L., Sparrow J.R., Williams D.S., Bennett J., Auricchio A. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J. Clin. Invest. 2008, 118:1955-1964.
10. Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Proteomic characterization of the human centrosome by protein correlation profiling. Nature 2003, 426:570-574.
11. Andrieu-Soler C., Doat M., Halhal M., Keller N., Jonet L., BenEzra D., Behar-Cohen F. Enhanced oligonucleotide delivery to mouse retinal cells using iontophoresis. Mol. Vis. 2006, 12:1098-1107.
12. Arsuaga J., Tan R.K., Vazquez M., Sumners D.W., Harvey S.C. Investigation of viral DNA packaging using molecular mechanics models. Biophys. Chem. 2002, 101-102:475-484.
13. Auricchio A., Rivera V.M., Clackson T., O'Connor E.E., Maguire A.M., Tolentino M.J., Bennett J., Wilson J.M. Pharmacological regulation of protein expression from adeno-associated viral vectors in the eye. Mol. Ther. 2002, 6:238-242.
14. Ayuso E., Mingozzi F., Montane J., Leon X., Anguela X.M., Haurigot V., Edmonson S.A., Africa L., Zhou S., High K.A., Bosch F., Wright J.F. High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency. Gene Ther. 2010, 17:503-510.
15. Bainbridge J.W., Mistry A., De Alwis M., Paleolog E., Baker A., Thrasher A.J., Ali R.R. Inhibition of retinal neovascularisation by gene transfer of soluble VEGF receptor sFlt-1. Gene Ther. 2002, 9:320-326.
16. Balaggan K.S., Binley K., Esapa M., Iqball S., Askham Z., Kan O., Tschernutter M., Bainbridge J.W., Naylor S., Ali R.R. Stable and efficient intraocular gene transfer using pseudotyped EIAV lentiviral vectors. J. Gene Med. 2006, 8:275-285.
17. Balaggan K.S., Binley K., Esapa M., MacLaren R.E., Iqball S., Duran Y., Pearson R.A., Kan O., Barker S.E., Smith A.J., Bainbridge J.W., Naylor S., Ali R.R. EIAV vector-mediated delivery of endostatin or angiostatin inhibits angiogenesis and vascular hyperpermeability in experimental CNV. Gene Ther. 2006, 13:1153-1165.
18. Bartlett J.S., Wilcher R., Samulski R.J. Infectious entry pathway of adeno-associated virus and adeno-associated virus vectors. J. Virol. 2000, 74:2777-2785.
19. Bejjani R.A., Andrieu C., Bloquel C., Berdugo M., BenEzra D., Behar-Cohen F. Electrically assisted ocular gene therapy. Surv. Ophthalmol. 2007, 52:196-208.
20. Bemelmans A.P., Kostic C., Hornfeld D., Jaquet M., Crippa S.V., Hauswirth W.W., Lem J., Wang Z., Schorderet D.E., Munier F.L., Wenzel A., Arsenijevic Y. Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy. Lentiviral gene therapy for LCA. Adv. Exp. Med. Biol. 2006, 572:247-253.
21. Bennett J., Wilson J., Sun D., Forbes B., Maguire A. Adenovirus vector-mediated in vivo gene transfer into adult murine retina. Invest. Ophthalmol. Vis. Sci. 1994, 35:2535-2542.
22. Bennett J., Duan D., Engelhardt J.F., Maguire A.M. Real-time, noninvasive in vivo assessment of adeno-associated virus-mediated retinal transduction. Invest. Ophthalmol. Vis. Sci. 1997, 38:2857-2863.
23. Bennett J., Maguire A.M., Cideciyan A.V., Schnell M., Glover E., Anand V., Aleman T.S., Chirmule N., Gupta A.R., Huang Y., Gao G.P., Nyberg W.C., Tazelaar J., Hughes J., Wilson J.M., Jacobson S.G. Stable transgene expression in rod photoreceptors after recombinant adeno-associated virus-mediated gene transfer to monkey retina. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:9920-9925.
24. Bennett J., Anand V., Acland G.M., Maguire A.M. Cross-species comparison of in vivo reporter gene expression after recombinant adeno-associated virus-mediated retinal transduction. Methods Enzymol. 2000, 316:777-789.
25. Bennett J. Immune response following intraocular delivery of recombinant viral vectors. Gene Ther. 2003, 10:977-982.
26. Bennicelli J., Wright J.F., Komaromy A., Jacobs J.B., Hauck B., Zelenaia O., Mingozzi F., Hui D., Chung D., Rex T.S., Wei Z., Qu G., Zhou S., Zeiss C., Arruda V.R., Acland G.M., Dell'Osso L.F., High K.A., Maguire A.M., Bennett J. Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol. Ther. 2008, 16:458-465.
27. Bentwich I., Avniel A., Karov Y., Aharonov R., Gilad S., Barad O., Barzilai A., Einat P., Einav U., Meiri E., Sharon E., Spector Y., Bentwich Z. Identification of hundreds of conserved and nonconserved human microRNAs. Nat. Genet. 2005, 37:766-770.
28. Berk A.J. Adenoviridae: the Viruses and Their Replication 2006, Lippincott Williams & Wilkins, New York. fifth ed.
29. Berns K.I., Meneses P., Duvoisin R., Laipis P., Hauswirth W. Use of recombinant angiostatin to prevent retinal neovascularization. Trans. Am. Clin. Climatol. Assoc. 2001, 112:68-75. Discussion 75-66.
30. Berns K.I. Paroviridae: the viruses and their replication. Fundamental Virology 1996, 1017-1042. Lippincott-Raven, Philadelphia, New York. B.N. Fields (Ed.).
31. Bilak M.M., Corse A.M., Bilak S.R., Lehar M., Tombran-Tink J., Kuncl R.W. Pigment epithelium-derived factor (PEDF) protects motor neurons from chronic glutamate-mediated neurodegeneration. J. Neuropathol. Exp. Neurol. 1999, 58:719-728.
32. Blacharski P. Fundus flacimaculatus. Retinal Dystrophies and Degenerations 1988, 135-159. Raven Press, New York. D.A. Newsome (Ed.).
33. Bornens M. The centrosome in cells and organisms. Science 2012, 335:422-426.
34. Boye S.E., Boye S.L., Pang J., Ryals R., Everhart D., Umino Y., Neeley A.W., Besharse J., Barlow R., Hauswirth W.W. Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. PLoS One 2010, 5:e11306.
35. Buch P.K., MacLaren R.E., Duran Y., Balaggan K.S., MacNeil A., Schlichtenbrede F.C., Smith A.J., Ali R.R. In contrast to AAV-mediated Cntf expression, AAV-mediated Gdnf expression enhances gene replacement therapy in rodent models of retinal degeneration. Mol. Ther. 2006, 14:700-709.
36. Bujakowska K., Audo I., Mohand-Said S., Lancelot M.E., Antonio A., Germain A., Leveillard T., Letexier M., Saraiva J.P., Lonjou C., Carpentier W., Sahel J.A., Bhattacharya S.S., Zeitz C. CRB1 mutations in inherited retinal dystrophies. Hum. Mutat. 2012, 33:306-315.
37. Burke T.R., Tsang S.H. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet. 2011, 32:165-174.
38. Cai X., Nash Z., Conley S.M., Fliesler S.J., Cooper M.J., Naash M.I. A partial structural and functional rescue of a retinitis pigmentosa model with compacted DNA nanoparticles. PLoS One 2009, 4:e5290.
39. Cai X., Conley S.M., Nash Z., Fliesler S.J., Cooper M.J., Naash M.I. Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa. FASEB J. 2010, 24:1178-1191.
40. Campochiaro P.A., Nguyen Q.D., Shah S.M., Klein M.L., Holz E., Frank R.N., Saperstein D.A., Gupta A., Stout J.T., Macko J., DiBartolomeo R., Wei L.L. Adenoviral vector-delivered pigment epithelium-derived factor for neovascular age-related macular degeneration: results of a phase I clinical trial. Hum. Gene Ther. 2006, 17:167-176.
41. Campochiaro P.A. Gene transfer for neovascular age-related macular degeneration. Hum. Gene Ther. 2011, 22:523-529.
42. Cao W., Tombran-Tink J., Chen W., Mrazek D., Elias R., McGinnis J.F. Pigment epithelium-derived factor protects cultured retinal neurons against hydrogen peroxide-induced cell death. J. Neurosci. Res. 1999, 57:789-800.
43. Cao W., Tombran-Tink J., Elias R., Sezate S., Mrazek D., McGinnis J.F. In vivo protection of photoreceptors from light damage by pigment epithelium-derived factor. Invest. Ophthalmol. Vis. Sci. 2001, 42:1646-1652.
44. Carvalho L.S., Xu J., Pearson R.A., Smith A.J., Bainbridge J.W., Morries L.M., Fliesler S.J., Ding X.Q., Ali R.R. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum. Mol. Genet. 2011.
45. Carvalho L.S., Xu J., Pearson R.A., Smith A.J., Bainbridge J.W., Morris L.M., Fliesler S.J., Ding X.Q., Ali R.R. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum. Mol. Genet. 2011, 20:3161-3175.
46. Chadderton N., Millington-Ward S., Palfi A., O'Reilly M., Tuohy G., Humphries M.M., Li T., Humphries P., Kenna P.F., Farrar G.J. Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy. Mol. Ther. 2009, 17:593-599.
47. Chang B., Dacey M.S., Hawes N.L., Hitchcock P.F., Milam A.H., Atmaca-Sonmez P., Nusinowitz S., Heckenlively J.R. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest. Ophthalmol. Vis. Sci. 2006, 47:5017-5021.
48. Chang B., Khanna H., Hawes N., Jimeno D., He S., Lillo C., Parapuram S.K., Cheng H., Scott A., Hurd R.E., Sayer J.A., Otto E.A., Attanasio M., O'Toole J.F., Jin G., Shou C., Hildebrandt F., Williams D.S., Heckenlively J.R., Swaroop A. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 2006, 15:1847-1857.
49. Chang B., Grau T., Dangel S., Hurd R., Jurklies B., Sener E.C., Andreasson S., Dollfus H., Baumann B., Bolz S., Artemyev N., Kohl S., Heckenlively J., Wissinger B. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:19581-19586.
50. Charbel Issa P., Maclaren R.E. Non-viral retinal gene therapy: a review. Clin. Exp. Ophthalmol. 2012, 40:39-47.
51. Charbel Issa P., Singh M.S., Lipinski D.M., Chong N.V., Delori F.C., Barnard A.R., Maclaren R.E. Optimization of in vivo confocal autofluorescence imaging of the ocular fundus in mice and its application to models of human retinal degeneration. Invest. Ophthalmol. Vis. Sci. 2012 Feb 29, 53(2):1066-1075.
52. Chen J., Flannery J.G., LaVail M.M., Steinberg R.H., Xu J., Simon M.I. bcl-2 overexpression reduces apoptotic photoreceptor cell death in three different retinal degenerations. Proc. Natl. Acad. Sci. U. S. A. 1996, 93:7042-7047.
53. Choi T., Huang M., Gorman C., Jaenisch R. A generic intron increases gene expression in transgenic mice. Mol. Cell. Biol. 1991, 11:3070-3074.
54. Chung D.C., Traboulsi E.I. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. J. AAPOS 2009, 13:587-592.
55. Clark S.J., Keenan T.D., Fielder H.L., Collinson L.J., Holley R.J., Merry C.L., van Kuppevelt T.H., Day A.J., Bishop P.N. Mapping the differential distribution of glycosaminoglycans in the adult human retina, choroid, and sclera. Invest. Ophthalmol. Vis. Sci. 2011, 52:6511-6521.
56. Dawson D.W., Volpert O.V., Gillis P., Crawford S.E., Xu H., Benedict W., Bouck N.P. Pigment epithelium-derived factor: a potent inhibitor of angiogenesis. Science 1999, 285:245-248.
57. D'Cruz P.M., Yasumura D., Weir J., Matthes M.T., Abderrahim H., LaVail M.M., Vollrath D. Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum. Mol. Genet. 2000, 9:645-651.
58. den Hollander A.I., ten Brink J.B., de Kok Y.J., van Soest S., van den Born L.I., van Driel M.A., van de Pol D.J., Payne A.M., Bhattacharya S.S., Kellner U., Hoyng C.B., Westerveld A., Brunner H.G., Bleeker-Wagemakers E.M., Deutman A.F., Heckenlively J.R., Cremers F.P., Bergen A.A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat. Genet. 1999, 23:217-221.
59. den Hollander A.I., Heckenlively J.R., van den Born L.I., de Kok Y.J., van der Velde-Visser S.D., Kellner U., Jurklies B., van Schooneveld M.J., Blankenagel A., Rohrschneider K., Wissinger B., Cruysberg J.R., Deutman A.F., Brunner H.G., Apfelstedt-Sylla E., Hoyng C.B., Cremers F.P. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am. J. Hum. Genet. 2001, 69:198-203.
60. den Hollander A.I., Koenekoop R.K., Yzer S., Lopez I., Arends M.L., Voesenek K.E., Zonneveld M.N., Strom T.M., Meitinger T., Brunner H.G., Hoyng C.B., van den Born L.I., Rohrschneider K., Cremers F.P. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 2006, 79:556-561.
61. den Hollander A.I., Roepman R., Koenekoop R.K., Cremers F.P.M. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin. Eye Res. 2008, 27:391-419.
62. Di Pasquale G., Davidson B.L., Stein C.S., Martins I., Scudiero D., Monks A., Chiorini J.A. Identification of PDGFR as a receptor for AAV-5 transduction. Nat. Med. 2003, 9:1306-1312.
63. Drenser K.A., Timmers A.M., Hauswirth W.W., Lewin A.S. Ribozyme-targeted destruction of RNA associated with autosomal-dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 1998, 39:681-689.
64. Duan D., Li Q., Kao A.W., Yue Y., Pessin J.E., Engelhardt J.F. Dynamin is required for recombinant adeno-associated virus type 2 infection. J. Virol. 1999, 73:10371-10376.
65. Duan D., Yue Y., Yan Z., Engelhardt J.F. Trans-splicing vectors expand the packaging limits of adeno-associated virus for gene therapy applications. Methods Mol. Med. 2003, 76:287-307.
66. Duda T., Venkataraman V., Goraczniak R., Lange C., Koch K.W., Sharma R.K. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. Biochemistry 1999, 38:509-515.
67. Dudus L., Anand V., Acland G.M., Chen S.J., Wilson J.M., Fisher K.J., Maguire A.M., Bennett J. Persistent transgene product in retina, optic nerve and brain after intraocular injection of rAAV. Vis. Res. 1999, 39:2545-2553.
68. Fabes J., Anderson P., Yanez-Munoz R.J., Thrasher A., Brennan C., Bolsover S. Accumulation of the inhibitory receptor EphA4 may prevent regeneration of corticospinal tract axons following lesion. Eur. J. Neurosci. 2006, 23:1721-1730.
69. Farnsworth C.C., Seabra M.C., Ericsson L.H., Gelb M.H., Glomset J.A. Rab geranylgeranyl transferase catalyzes the geranylgeranylation of adjacent cysteines in the small GTPases Rab1A, Rab3A, and Rab5A. Proc. Natl. Acad. Sci. U. S. A. 1994, 91:11963-11967.
70. Ferrari F.K., Samulski T., Shenk T., Samulski R.J. Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors. J. Virol. 1996, 70:3227-3234.
71. Fishman G.A. Retinitis pigmentosa visual loss. Arch. Ophthalmol. 1978, 96:1185-1188.
72. Flannery J.G., Zolotukhin S., Vaquero M.I., LaVail M.M., Muzyczka N., Hauswirth W.W. Efficient photoreceptor-targeted gene expression in vivo by recombinant adeno-associated virus. Proc. Natl. Acad. Sci. U. S. A. 1997, 94:6916-6921.
73. Folk J.C., Stone E.M. Ranibizumab therapy for neovascular age-related macular degeneration. N. Engl. J. Med. 2010, 363:1648-1655.
74. Folliot S., Briot D., Conrath H., Provost N., Cherel Y., Moullier P., Rolling F. Sustained tetracycline-regulated transgene expression in vivo in rat retinal ganglion cells using a single type 2 adeno-associated viral vector. J. Gene Med. 2003, 5:493-501.
75. Francois J., De Laey J.J., Cambie E., Hanssens M., Victoria-Troncoso V. Neovascularization after argon laser photocoagulation of macular lesions. Am. J. Ophthalmol. 1975, 79:206-210.
76. Freed E.O., Martin M.A. HIVs and Their Replication 1996, Lippincott-Raven, New York.
77. Gao G., Vandenberghe L.H., Wilson J.M. New recombinant serotypes of AAV vectors. Curr. Gene Ther. 2005, 5:285-297.
78. Georgiadis A., Tschernutter M., Bainbridge J.W., Robbie S.J., McIntosh J., Nathwani A.C., Smith A.J., Ali R.R. AAV-mediated knockdown of peripherin-2 in vivo using miRNA-based hairpins. Gene Ther. 2010, 17:486-493.
79. Gerstner A., Zong X., Hofmann F., Biel M. Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina. J. Neurosci. 2000, 20:1324-1332.
80. Ghosh M., McCulloch J.C. Pathological findings from two cases of choroideremia. Can. J. Ophthalmol. 1980, 15:147-153.
81. Gianni A.M., Smotkin D., Weinberg R.A. Murine leukemia virus: detection of unintegrated double-stranded DNA forms of the provirus. Proc. Natl. Acad. Sci. U. S. A. 1975, 72:447-451.
82. Goody R.J., Hu W., Shafiee A., Struharik M., Bartels S., Lopez F.J., Lawrence M.S. Optimization of laser-induced choroidal neovascularization in African green monkeys. Exp. Eye Res. 2011, 92:464-472.
83. Gorbatyuk M., Justilien V., Liu J., Hauswirth W.W., Lewin A.S. Preservation of photoreceptor morphology and function in P23H rats using an allele independent ribozyme. Exp. Eye Res. 2007, 84:44-52.
84. Gorbatyuk M.S., Knox T., LaVail M.M., Gorbatyuk O.S., Noorwez S.M., Hauswirth W.W., Lin J.H., Muzyczka N., Lewin A.S. Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:5961-5966.
85. Gossen M., Bujard H. Tight control of gene expression in mammalian cells by tetracycline-responsive promoters. Proc. Natl. Acad. Sci. U. S. A. 1992, 89:5547-5551.
86. Grimm C., Hermann D.M., Bogdanova A., Hotop S., Kilic U., Wenzel A., Kilic E., Gassmann M. Neuroprotection by hypoxic preconditioning: HIF-1 and erythropoietin protect from retinal degeneration. Semin. Cell. Dev. Biol. 2005, 16:531-538.
87. Grimm C., Wenzel A., Acar N., Keller S., Seeliger M., Gassmann M. Hypoxic preconditioning and erythropoietin protect retinal neurons from degeneration. Adv. Exp. Med. Biol. 2006, 588:119-131.
88. Gu S.M., Thompson D.A., Srikumari C.R., Lorenz B., Finckh U., Nicoletti A., Murthy K.R., Rathmann M., Kumaramanickavel G., Denton M.J., Gal A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 1997, 17:194-197.
89. Hacein-Bey-Abina S., Garrigue A., Wang G.P., Soulier J., Lim A., Morillon E., Clappier E., Caccavelli L., Delabesse E., Beldjord K., Asnafi V., MacIntyre E., Dal Cortivo L., Radford I., Brousse N., Sigaux F., Moshous D., Hauer J., Borkhardt A., Belohradsky B.H., Wintergerst U., Velez M.C., Leiva L., Sorensen R., Wulffraat N., Blanche S., Bushman F.D., Fischer A., Cavazzana-Calvo M. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J. Clin. Invest. 2008, 118:3132-3142.
90. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol. Scand. Suppl. 2002, 233:1-34.
91. Hall M.O., Prieto A.L., Obin M.S., Abrams T.A., Burgess B.L., Heeb M.J., Agnew B.J. Outer segment phagocytosis by cultured retinal pigment epithelial cells requires Gas6. Exp. Eye Res. 2001, 73:509-520.
92. Hall M.O., Obin M.S., Heeb M., Burgess B.L., Abrams T.A. Both protein S and Gas6 stimulate outer segment phagocytosis by cultured rat retinal pigment epithelial cells. Exp. Eye Res. 2005, 81:581-591.
93. Hartong D.T., Berson E.L., Dryja T.P. Retinitis pigmentosa. Lancet 2006, 368:1795-1809.
94. Hauswirth W.W., LaVail M.M., Flannery J.G., Lewin A.S. Ribozyme gene therapy for autosomal dominant retinal disease. Clin. Chem. Lab. Med. 2000, 38:147-153.
95. He Y., Smith S.K., Day K.A., Clark D.E., Licence D.R., Charnock-Jones D.S. Alternative splicing of vascular endothelial growth factor (VEGF)-R1 (FLT-1) pre-mRNA is important for the regulation of VEGF activity. Mol. Endocrinol. 1999, 13:537-545.
96. Hirsch M.L., Agbandje-McKenna M., Samulski R.J. Little vector, big gene transduction: fragmented genome reassembly of adeno-associated virus. Mol. Ther. 2010, 18:6-8.
97. Hoffman L.M., Maguire A.M., Bennett J. Cell-mediated immune response and stability of intraocular transgene expression after adenovirus-mediated delivery. Invest. Ophthalmol. Vis. Sci. 1997, 38:2224-2233.
98. Hong D.H., Pawlyk B.S., Adamian M., Li T. Dominant, gain-of-function mutant produced by truncation of RPGR. Invest. Ophthalmol. Vis. Sci. 2004, 45:36-41.
99. Hosch J., Lorenz B., Stieger K. RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy. Ophthalmic Genet. 2011, 32:1-11.
100. Howe S.J., Mansour M.R., Schwarzwaelder K., Bartholomae C., Hubank M., Kempski H., Brugman M.H., Pike-Overzet K., Chatters S.J., de Ridder D., Gilmour K.C., Adams S., Thornhill S.I., Parsley K.L., Staal F.J., Gale R.E., Linch D.C., Bayford J., Brown L., Quaye M., Kinnon C., Ancliff P., Webb D.K., Schmidt M., von Kalle C., Gaspar H.B., Thrasher A.J. Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J. Clin. Invest. 2008, 118:3143-3150.
101. Humphries M.M., Rancourt D., Farrar G.J., Kenna P., Hazel M., Bush R.A., Sieving P.A., Sheils D.M., McNally N., Creighton P., Erven A., Boros A., Gulya K., Capecchi M.R., Humphries P. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat. Genet. 1997, 15:216-219.
102. Huntzinger E., Izaurralde E. Gene silencing by microRNAs: contributions of translational repression and mRNA decay. Nat. Rev. Genet. 2011, 12:99-110.
103. Husain D., Kim I., Gauthier D., Lane A.M., Tsilimbaris M.K., Ezra E., Connolly E.J., Michaud N., Gragoudas E.S., O'Neill C.A., Beyer J.C., Miller J.W. Safety and efficacy of intravitreal injection of ranibizumab in combination with verteporfin PDT on experimental choroidal neovascularization in the monkey. Arch. Ophthalmol. 2005, 123:509-516.
104. Igarashi T., Miyake K., Masuda I., Takahashi H., Shimada T. Adeno-associated vector (type 8)-mediated expression of soluble Flt-1 efficiently inhibits neovascularization in a murine choroidal neovascularization model. Hum. Gene Ther. 2010, 21:631-637.
105. Jaakson K., Zernant J., Kulm M., Hutchinson A., Tonisson N., Glavac D., Ravnik-Glavac M., Hawlina M., Meltzer M.R., Caruso R.C., Testa F., Maugeri A., Hoyng C.B., Gouras P., Simonelli F., Lewis R.A., Lupski J.R., Cremers F.P., Allikmets R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum. Mutat. 2003, 22:395-403.
106. Jacobson S.G., Cideciyan A.V., Aleman T.S., Pianta M.J., Sumaroka A., Schwartz S.B., Smilko E.E., Milam A.H., Sheffield V.C., Stone E.M. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 2003, 12:1073-1078.
107. Jacobson S.G., Acland G.M., Aguirre G.D., Aleman T.S., Schwartz S.B., Cideciyan A.V., Zeiss C.J., Komaromy A.M., Kaushal S., Roman A.J., Windsor E.A., Sumaroka A., Pearce-Kelling S.E., Conlon T.J., Chiodo V.A., Boye S.L., Flotte T.R., Maguire A.M., Bennett J., Hauswirth W.W. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol. Ther. 2006, 13:1074-1084.
108. Jacobson S.G., Boye S.L., Aleman T.S., Conlon T.J., Zeiss C.J., Roman A.J., Cideciyan A.V., Schwartz S.B., Komaromy A.M., Doobrajh M., Cheung A.Y., Sumaroka A., Pearce-Kelling S.E., Aguirre G.D., Kaushal S., Maguire A.M., Flotte T.R., Hauswirth W.W. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum. Gene Ther. 2006, 17:845-858.
109. Jacobson S.G., Aleman T.S., Cideciyan A.V., Roman A.J., Sumaroka A., Windsor E.A., Schwartz S.B., Heon E., Stone E.M. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest. Ophthalmol. Vis. Sci. 2009, 50:2368-2375.
110. Jimeno D., Feiner L., Lillo C., Teofilo K., Goldstein L.S., Pierce E.A., Williams D.S. Analysis of kinesin-2 function in photoreceptor cells using synchronous Cre-loxP knockout of Kif3a with RHO-Cre. Invest. Ophthalmol. Vis. Sci. 2006, 47:5039-5046.
111. Johnson C.J., Berglin L., Chrenek M.A., Redmond T.M., Boatright J.H., Nickerson J.M. Technical brief: subretinal injection and electroporation into adult mouse eyes. Mol. Vis. 2008, 14:2211-2226.
112. Kachi S., Oshima Y., Esumi N., Kachi M., Rogers B., Zack D.J., Campochiaro P.A. Nonviral ocular gene transfer. Gene Ther. 2005, 12:843-851.
113. Kaludov N., Handelman B., Chiorini J.A. Scalable purification of adeno-associated virus type 2, 4, or 5 using ion-exchange chromatography. Hum. Gene Ther. 2002, 13:1235-1243.
114. Karali M., Manfredi A., Puppo A., Marrocco E., Gargiulo A., Allocca M., Corte M.D., Rossi S., Giunti M., Bacci M.L., Simonelli F., Surace E.M., Banfi S., Auricchio A. MicroRNA-restricted transgene expression in the retina. PLoS One 2011, 6:e22166.
115. 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. 2005, 79:609-614.
116. Kaupp U.B., Seifert R. Cyclic nucleotide-gated ion channels. Physiol. Rev. 2002, 82:769-824.
117. Kendall R.L., Wang G., Thomas K.A. Identification of a natural soluble form of the vascular endothelial growth factor receptor, FLT-1, and its heterodimerization with KDR. Biochem. Biophys. Res. Commun. 1996, 226:324-328.
118. Khanna H., Hurd T.W., Lillo C., Shu X., Parapuram S.K., He S., Akimoto M., Wright A.F., Margolis B., Williams D.S., Swaroop A. RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J. Biol. Chem. 2005, 280:33580-33587.
119. Kilian E.G., Eifert S., Beiras-Fernandez A., Daebritz S., Reichenspurner H., Reichart B. Adeno-associated virus-mediated gene transfer in a rabbit vein graft model. Circ. J. 2008, 72:1700-1704.
120. Kim I.K., Husain D., Michaud N., Connolly E., Lane A.M., Durrani K., Hafezi-Moghadam A., Gragoudas E.S., O'Neill C.A., Beyer J.C., Miller J.W. Effect of intravitreal injection of ranibizumab in combination with verteporfin PDT on normal primate retina and choroid. Invest. Ophthalmol. Vis. Sci. 2006, 47:357-363.
121. Klein R., Cruickshanks K.J., Nash S.D., Krantz E.M., Javier Nieto F., Huang G.H., Pankow J.S., Klein B.E. The prevalence of age-related macular degeneration and associated risk factors. Arch. Ophthalmol. 2010, 128:750-758.
122. Knupp C., Chong N.H., Munro P.M., Luthert P.J., Squire J.M. Analysis of the collagen VI assemblies associated with Sorsby's fundus dystrophy. J. Struct. Biol. 2002, 137:31-40.
123. Kohl S., Baumann B., Broghammer M., Jagle H., Sieving P., Kellner U., Spegal R., Anastasi M., Zrenner E., Sharpe L.T., Wissinger B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum. Mol. Genet. 2000, 9:2107-2116.
124. Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala M., Jacobson S.G., Wissinger B. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am. J. Hum. Genet. 2002, 71:422-425.
125. Kohl S., Jagle H., Sharpe L.T., Wissinger B. Achromatopsia. GeneReviews 2010, University of Washington, Seattle. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
126. Komaromy 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. Gene therapy rescues cone function in congenital achromatopsia. Hum. Mol. Genet. 2010, 19:2581-2593.
127. Kong J., Kim S.R., Binley K., Pata I., Doi K., Mannik J., Zernant-Rajang J., Kan O., Iqball S., Naylor S., Sparrow J.R., Gouras P., Allikmets R. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Ther. 2008, 15:1311-1320.
128. Kosiewicz M.M., Alard P., Streilein J.W. Alterations in cytokine production following intraocular injection of soluble protein antigen: impairment in IFN-gamma and induction of TGF-beta and IL-4 production. J. Immunol. 1998, 161:5382-5390.
129. Kotin R.M., Linden R.M., Berns K.I. Characterization of a preferred site on human chromosome 19q for integration of adeno-associated virus DNA by non-homologous recombination. EMBO J. 1992, 11:5071-5078.
130. Krishnan A., Goraczniak R.M., Duda T., Sharma R.K. Third calcium-modulated rod outer segment membrane guanylate cyclase transduction mechanism. Mol. Cell. Biochem. 1998, 178:251-259.
131. Krzystolik M.G., Afshari M.A., Adamis A.P., Gaudreault J., Gragoudas E.S., Michaud N.A., Li W., Connolly E., O'Neill C.A., Miller J.W. Prevention of experimental choroidal neovascularization with intravitreal anti-vascular endothelial growth factor antibody fragment. Arch. Ophthalmol. 2002, 120:338-346.
132. Ku C.A., Chiodo V.A., Boye S.L., Goldberg A.F., Li T., Hauswirth W.W., Ramamurthy V. Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis. Hum. Mol. Genet. 2011, 20:4569-4581.
133. Kube D.M., Ponnazhagan S., Srivastava A. Encapsidation of adeno-associated virus type 2 Rep proteins in wild-type and recombinant progeny virions: rep-mediated growth inhibition of primary human cells. J. Virol. 1997, 71:7361-7371.
134. Kurada P., Tonini T.D., Serikaku M.A., Piccini J.P., O'Tousa J.E. Rhodopsin maturation antagonized by dominant rhodopsin mutants. Vis. Neurosci. 1998, 15:693-700.
135. Lai C.C., Wu W.C., Chen S.L., Xiao X., Tsai T.C., Huan S.J., Chen T.L., Tsai R.J., Tsao Y.P. Suppression of choroidal neovascularization by adeno-associated virus vector expressing angiostatin. Invest. Ophthalmol. Vis. Sci. 2001, 42:2401-2407.
136. Lai C.M., Shen W.Y., Brankov M., Lai Y.K., Barnett N.L., Lee S.Y., Yeo I.Y., Mathur R., Ho J.E., Pineda P., Barathi A., Ang C.L., Constable I.J., Rakoczy E.P. Long-term evaluation of AAV-mediated sFlt-1 gene therapy for ocular neovascularization in mice and monkeys. Mol. Ther. 2005, 12:659-668.
137. Lai Y., Yue Y., Liu M., Ghosh A., Engelhardt J.F., Chamberlain J.S., Duan D. Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors. Nat. Biotechnol. 2005, 23:1435-1439.
138. Lai Y., Yue Y., Duan D. Evidence for the failure of adeno-associated virus serotype 5 to package a viral genome > or = 8.2 kb. Mol. Ther. 2010, 18:75-79.
139. Landgraf P., Rusu M., Sheridan R., Sewer A., Iovino N., Aravin A., Pfeffer S., Rice A., Kamphorst A.O., Landthaler M., Lin C., Socci N.D., Hermida L., Fulci V., Chiaretti S., Foa R., Schliwka J., Fuchs U., Novosel A., Muller R.U., Schermer B., Bissels U., Inman J., Phan Q., Chien M., Weir D.B., Choksi R., De Vita G., Frezzetti D., Trompeter H.I., Hornung V., Teng G., Hartmann G., Palkovits M., Di Lauro R., Wernet P., Macino G., Rogler C.E., Nagle J.W., Ju J., Papavasiliou F.N., Benzing T., Lichter P., Tam W., Brownstein M.J., Bosio A., Borkhardt A., Russo J.J., Sander C., Zavolan M., Tuschl T. A mammalian microRNA expression atlas based on small RNA library sequencing. Cell 2007, 129:1401-1414.
140. Laura R.P., Dizhoor A.M., Hurley J.B. The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain. J. Biol. Chem. 1996, 271:11646-11651.
141. LaVail M.M., Yasumura D., Matthes M.T., Drenser K.A., Flannery J.G., Lewin A.S., Hauswirth W.W. Ribozyme rescue of photoreceptor cells in P23H transgenic rats: long-term survival and late-stage therapy. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:11488-11493.
142. Le Meur G., Stieger K., Smith A.J., Weber M., Deschamps J.Y., Nivard D., Mendes-Madeira A., Provost N., Pereon Y., Cherel Y., Ali R.R., Hamel C., Moullier P., Rolling F. Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Gene Ther. 2007, 14:292-303.
143. Leber T. Ueber Retinitis Pigmentosa und angeborene Amaurose. Graefes Arch. Klin Exp. Ophthalmol. 1869, 15:13-20.
144. Lebherz C., Auricchio A., Maguire A.M., Rivera V.M., Tang W., Grant R.L., Clackson T., Bennett J., Wilson J.M. Long-term inducible gene expression in the eye via adeno-associated virus gene transfer in nonhuman primates. Hum. Gene Ther. 2005, 16:178-186.
145. Lebherz C., Maguire A., Tang W., Bennett J., Wilson J.M. Novel AAV serotypes for improved ocular gene transfer. J. Gene Med. 2008, 10:375-382.
146. Leonard K.C., Petrin D., Coupland S.G., Baker A.N., Leonard B.C., LaCasse E.C., Hauswirth W.W., Korneluk R.G., Tsilfidis C. XIAP protection of photoreceptors in animal models of retinitis pigmentosa. PLoS One 2007, 2:e314.
147. Leveillard T., Sahel J.A. Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signaling. Sci. Transl. Med. 2010, 2. 26ps16.
148. Leveziel N., Tilleul J., Puche N., Zerbib J., Laloum F., Querques G., Souied E.H. Genetic factors associated with age-related macular degeneration. Ophthalmologica 2011, 226:87-102.
149. Lewin A.S., Drenser K.A., Hauswirth W.W., Nishikawa S., Yasumura D., Flannery J.G., LaVail M.M. Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nat. Med. 1998, 4:967-971.
150. Li T., Adamian M., Roof D.J., Berson E.L., Dryja T.P., Roessler B.J., Davidson B.L. In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Invest. Ophthalmol. Vis. Sci. 1994, 35:2543-2549.
151. Liang F.Q., Dejneka N.S., Cohen D.R., Krasnoperova N.V., Lem J., Maguire A.M., Dudus L., Fisher K.J., Bennett J. AAV-mediated delivery of ciliary neurotrophic factor prolongs photoreceptor survival in the rhodopsin knockout mouse. Mol. Ther. 2001, 3:241-248.
152. Lichtlen P., Lam T.T., Nork T.M., Streit T., Urech D.M. Relative contribution of VEGF and TNF-alpha in the cynomolgus laser-induced CNV model: comparing the efficacy of bevacizumab, adalimumab, and ESBA105. Invest. Ophthalmol. Vis. Sci. 2010, 51:4738-4745.
153. Lipinski D.M., Singh M.S., Maclaren R.E. Assessment of cone survival in response to CNTF, GDNF and VEGF165b in a novel ex vivo model of end-stage retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2011 Sep 21, 52(10):7340-7346.
154. Liu X., Udovichenko I.P., Brown S.D., Steel K.P., Williams D.S. Myosin VIIa participates in opsin transport through the photoreceptor cilium. J. Neurosci. 1999, 19:6267-6274.
155. Liu G., Li D., Pasumarthy M.K., Kowalczyk T.H., Gedeon C.R., Hyatt S.L., Payne J.M., Miller T.J., Brunovskis P., Fink T.L., Muhammad O., Moen R.C., Hanson R.W., Cooper M.J. Nanoparticles of compacted DNA transfect postmitotic cells. J. Biol. Chem. 2003, 278:32578-32586.
156. Lorda-Sanchez I.J., Ibanez A.J., Sanz R.J., Trujillo M.J., Anabitarte M.E., Querejeta M.E., Rodriguez de Alba M., Gimenez A., Infantes F., Ramos C., Garcia-Sandoval B., Ayuso C. Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation. Ophthalmic Genet. 2000, 21:185-189.
157. Lorenz B., Poliakov E., Schambeck M., Friedburg C., Preising M.N., Redmond T.M. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. Invest. Ophthalmol. Vis. Sci. 2008, 49:5235-5242.
158. Lotery A., Xu X., Zlatava G., Loftus J. Burden of illness, visual impairment and health resource utilisation of patients with neovascular age-related macular degeneration: results from the UK cohort of a five-country cross-sectional study. Br. J. Ophthalmol. 2007, 91:1303-1307.
159. MacDonald I.M., Smaoui N., Seabra M.C. Choroideremia. Gene Reviews [Internet] 2010, University of Washington Press, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
160. Mackay D.S., Henderson R.H., Sergouniotis P.I., Li Z., Moradi P., Holder G.E., Waseem N., Bhattacharya S.S., Aldahmesh M.A., Alkuraya F.S., Meyer B., Webster A.R., Moore A.T. Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol. Vis. 2010, 16:369-377.
161. MacLaren R.E. An analysis of retinal gene therapy clinical trials. Curr. Opin. Mol. Ther. 2009, 11:540-546.
162. Maeda A., Maeda T., Sun W., Zhang H., Baehr W., Palczewski K. Redundant and unique roles of retinol dehydrogenases in the mouse retina. Proc. Natl. Acad. Sci. U. S. A. 2007, 104:19565-19570.
163. Maminishkis A., Chen S., Jalickee S., Banzon T., Shi G., Wang F.E., Ehalt T., Hammer J.A., Miller S.S. Confluent monolayers of cultured human fetal retinal pigment epithelium exhibit morphology and physiology of native tissue. Invest. Ophthalmol. Vis. Sci. 2006, 47:3612-3624.
164. Mancuso K., Hauswirth W.W., Li Q., Connor T.B., Kuchenbecker J.A., Mauck M.C., Neitz J., Neitz M. Gene therapy for red-green colour blindness in adult primates. Nature 2009, 461:784-787.
165. Mao H., James T., Schwein A., Shabashvili A.E., Hauswirth W.W., Gorbatyuk M.S., Lewin A.S. AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa. Hum. Gene Ther. 2011, 22:567-575.
166. Marszalek J.R., Liu X., Roberts E.A., Chui D., Marth J.D., Williams D.S., Goldstein L.S. Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell 2000, 102:175-187.
167. Mata N.L., Weng J., Travis G.H. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:7154-7159.
168. Matveev A.V., Fitzgerald J.B., Xu J., Malykhina A.P., Rodgers K.K., Ding X.Q. The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change. Biochemistry 2010, 49:1628-1639.
169. Mauthner, H., 1871. Ein fall von choroideremia Naturwissenschaftlich-Medezinischer Verein in innsbruck 2, 191 (cited by Lowe, R.F. 1950. Choroideremia - a report of three cases in three generations. Br. J. Ophthalmol. 1935, 1931.).
170. McCulloch J.C. The pathologic findings in two cases of choroideremia. Trans. Am. Acad. Ophthalmol. Otolaryngol. 1950, 54:565-572.
171. McGee Sanftner L.H., Abel H., Hauswirth W.W., Flannery J.G. Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa. Mol. Ther. 2001, 4:622-629.
172. McLaughlin S.K., Collis P., Hermonat P.L., Muzyczka N. Adeno-associated virus general transduction vectors: analysis of proviral structures. J. Virol. 1988, 62:1963-1973.
173. Mendes H.F., van der Spuy J., Chapple J.P., Cheetham M.E. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol. Med. 2005, 11:177-185.
174. Michalakis S., Muhlfriedel R., Tanimoto N., Krishnamoorthy V., Koch S., Fischer M.D., Becirovic E., Bai L., Huber G., Beck S.C., Fahl E., Buning H., Paquet-Durand F., Zong X., Gollisch T., Biel M., Seeliger M.W. Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function. Mol. Ther. 2010, 18:2057-2063.
175. Mihelec M., Pearson R.A., Robbie S.J., Buch P.K., Azam S.A., Bainbridge J.W., Smith A.J., Ali R.R. Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency. Hum. Gene Ther. 2011, 22:1179-1190.
176. Miller D.G., Petek L.M., Russell D.W. Adeno-associated virus vectors integrate at chromosome breakage sites. Nat. Genet. 2004, 36:767-773.
177. Mitchell R.S., Beitzel B.F., Schroder A.R., Shinn P., Chen H., Berry C.C., Ecker J.R., Bushman F.D. Retroviral DNA integration: ASLV, HIV, and MLV show distinct target site preferences. PLoS Biol. 2004, 2:E234.
178. Miyoshi H., Takahashi M., Gage F.H., Verma I.M. Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector. Proc. Natl. Acad. Sci. U. S. A. 1997, 94:10319-10323.
179. Moller C.G., Kimberling W.J., Davenport S.L., Priluck I., White V., Biscone-Halterman K., Odkvist L.M., Brookhouser P.E., Lund G., Grissom T.J. Usher syndrome: an otoneurologic study. Laryngoscope 1989, 99:73-79.
180. Mori K., Gehlbach P., Yamamoto S., Duh E., Zack D.J., Li Q., Berns K.I., Raisler B.J., Hauswirth W.W., Campochiaro P.A. AAV-mediated gene transfer of pigment epithelium-derived factor inhibits choroidal neovascularization. Invest. Ophthalmol. Vis. Sci. 2002, 43:1994-2000.
181. Mori S., Wang L., Takeuchi T., Kanda T. Two novel adeno-associated viruses from cynomolgus monkey: pseudotyping characterization of capsid protein. Virology 2004, 330:375-383.
182. Mussolino C., della Corte M., Rossi S., Viola F., Di Vicino U., Marrocco E., Neglia S., Doria M., Testa F., Giovannoni R., Crasta M., Giunti M., Villani E., Lavitrano M., Bacci M.L., Ratiglia R., Simonelli F., Auricchio A., Surace E.M. AAV-mediated photoreceptor transduction of the pig cone-enriched retina. Gene Ther. 2011, 18:637-645.
183. Nishijima K., Ng Y.S., Zhong L., Bradley J., Schubert W., Jo N., Akita J., Samuelsson S.J., Robinson G.S., Adamis A.P., Shima D.T. Vascular endothelial growth factor-A is a survival factor for retinal neurons and a critical neuroprotectant during the adaptive response to ischemic injury. Am. J. Pathol. 2007, 171:53-67.
184. No D., Yao T.P., Evans R.M. Ecdysone-inducible gene expression in mammalian cells and transgenic mice. Proc. Natl. Acad. Sci. U. S. A. 1996, 93:3346-3351.
185. Noorwez S.M., Kuksa V., Imanishi Y., Zhu L., Filipek S., Palczewski K., Kaushal S. Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa. J. Biol. Chem. 2003, 278:14442-14450.
186. Okoye G., Zimmer J., Sung J., Gehlbach P., Deering T., Nambu H., Hackett S., Melia M., Esumi N., Zack D.J., Campochiaro P.A. Increased expression of brain-derived neurotrophic factor preserves retinal function and slows cell death from rhodopsin mutation or oxidative damage. J. Neurosci. 2003, 23:4164-4172.
187. O'Reilly M.S., Holmgren L., Shing Y., Chen C., Rosenthal R.A., Cao Y., Moses M., Lane W.S., Sage E.H., Folkman J. Angiostatin: a circulating endothelial cell inhibitor that suppresses angiogenesis and tumor growth. Cold Spring Harb. Symp. Quant. Biol. 1994, 59:471-482.
188. O'Reilly M.S., Holmgren L., Shing Y., Chen C., Rosenthal R.A., Moses M., Lane W.S., Cao Y., Sage E.H., Folkman J. Angiostatin: a novel angiogenesis inhibitor that mediates the suppression of metastases by a Lewis lung carcinoma. Cell 1994, 79:315-328.
189. O'Reilly M.S., Boehm T., Shing Y., Fukai N., Vasios G., Lane W.S., Flynn E., Birkhead J.R., Olsen B.R., Folkman J. Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. Cell 1997, 88:277-285.
190. O'Reilly M., Palfi A., Chadderton N., Millington-Ward S., Ader M., Cronin T., Tuohy T., Auricchio A., Hildinger M., Tivnan A., McNally N., Humphries M.M., Kiang A.S., Humphries P., Kenna P.F., Farrar G.J. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am. J. Hum. Genet. 2007, 81:127-135.
191. Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D., Balkany T., Liu X.Z. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum. Genet. 2005, 116:292-299.
192. Pagon R.A., Daiger S.P. Retinitis Pigmentosa Overview 2005, University of Washington Press, Seattle.
193. Palfi A., Ader M., Kiang A.S., Millington-Ward S., Clark G., O'Reilly M., McMahon H.P., Kenna P.F., Humphries P., Farrar G.J. RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture. Hum. Mutat. 2006, 27:260-268.
194. Pang J.J., Chang B., Hawes N.L., Hurd R.E., Davisson M.T., Li J., Noorwez S.M., Malhotra R., McDowell J.H., Kaushal S., Hauswirth W.W., Nusinowitz S., Thompson D.A., Heckenlively J.R. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol. Vis. 2005, 11:152-162.
195. Pang J., Lei B., Mao S., Everhart D., Deng W., Lieu L., Li Q., Chang B., Barlow R., Hauswirth W.W. Long Term Rescue Following AAV-mediated Cone Targeting Gene Therapy to cpfl5 mice, a model of human achromatopsia 2 with CNGA3 mutation, ARVO 2009 Annual Meeting, Fort Lauderdale, FL 2009.
196. Pang J., Boye S.E., Lei B., Boye S.L., Everhart D., Ryals R., Umino Y., Rohrer B., Alexander J., Li J., Dai X., Li Q., Chang B., Barlow R., Hauswirth W.W. Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency. Gene Ther. 2010, 17:815-826.
197. Pang J.J., Alexander J., Lei B., Deng W., Zhang K., Li Q., Chang B., Hauswirth W.W. Achromatopsia as a potential candidate for gene therapy. Adv. Exp. Med. Biol. 2010, 664:639-646.
198. Pang J.J., Deng W.T., Dai X., Lei B., Everhart D., Umino Y., Li J., Zhang K., Mao S., Boye S.L., Liu L., Chiodo V.A., Liu X., Shi W., Tao Y., Chang B., Hauswirth W.W. AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS One 2012, 7:e35250.
199. Park K., Jin J., Hu Y., Zhou K., Ma J.X. Overexpression of pigment epithelium-derived factor inhibits retinal inflammation and neovascularization. Am. J. Pathol. 2011, 178:688-698.
200. Perrault I., Rozet J.M., Calvas P., Gerber S., Camuzat A., Dollfus H., Chatelin S., Souied E., Ghazi I., Leowski C., Bonnemaison M., Le Paslier D., Frezal J., Dufier J.L., Pittler S., Munnich A., Kaplan J. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat. Genet. 1996, 14:461-464.
201. Perrault I., Hanein S., Gerber S., Lebail B., Vlajnik P., Barbet F., Ducroq D., Dufier J.L., Munnich A., Kaplan J., Rozet J.M. A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype. Hum. Mutat. 2005, 25:222.
202. Petrs-Silva H., Dinculescu A., Li Q., Min S.H., Chiodo V., Pang J.J., Zhong L., Zolotukhin S., Srivastava A., Lewin A.S., Hauswirth W.W. High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors. Mol. Ther. 2009, 17:463-471.
203. Preising M., Ayuso C. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet. 2004, 25:101-110.
204. Provost N., Le Meur G., Weber M., Mendes-Madeira A., Podevin G., Cherel Y., Colle M.A., Deschamps J.Y., Moullier P., Rolling F. Biodistribution of rAAV vectors following intraocular administration: evidence for the presence and persistence of vector DNA in the optic nerve and in the brain. Mol. Ther. 2005, 11:275-283.
205. 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. 1999, 5:71-77.
206. Rajan R.S., Kopito R.R. Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. J. Biol. Chem. 2005, 280:1284-1291.
207. Raper S.E., Chirmule N., Lee F.S., Wivel N.A., Bagg A., Gao G.P., Wilson J.M., Batshaw M.L. Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. Mol. Genet. Metab. 2003, 80:148-158.
208. Redmond T.M., Yu S., Lee E., Bok D., Hamasaki D., Chen N., Goletz P., Ma J.X., Crouch R.K., Pfeifer K. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat. Genet. 1998, 20:344-351.
209. Reichel M.B., Ali R.R., Thrasher A.J., Hunt D.M., Bhattacharya S.S., Baker D. Immune responses limit adenovirally mediated gene expression in the adult mouse eye. Gene Ther. 1998, 5:1038-1046.
210. Renno R.Z., Youssri A.I., Michaud N., Gragoudas E.S., Miller J.W. Expression of pigment epithelium-derived factor in experimental choroidal neovascularization. Invest. Ophthalmol. Vis. Sci. 2002, 43:1574-1580.
211. Renwick J., Narang M.A., Coupland S.G., Xuan J.Y., Baker A.N., Brousseau J., Petrin D., Munger R., Leonard B.C., Hauswirth W.W., Korneluk R.G., Tsilfidis C. XIAP-mediated neuroprotection in retinal ischemia. Gene Ther. 2006, 13:339-347.
212. Rex T.S., Allocca M., Domenici L., Surace E.M., Maguire A.M., Lyubarsky A., Cellerino A., Bennett J., Auricchio A. Systemic but not intraocular Epo gene transfer protects the retina from light-and genetic-induced degeneration. Mol. Ther. 2004, 10:855-861.
213. Rivera V.M., Clackson T., Natesan S., Pollock R., Amara J.F., Keenan T., Magari S.R., Phillips T., Courage N.L., Cerasoli F., Holt D.A., Gilman M. A humanized system for pharmacologic control of gene expression. Nat. Med. 1996, 2:1028-1032.
214. Rolling F., Le Meur G., Stieger K., Smith A.J., Weber M., Deschamps J.Y., Nivard D., Mendes-Madeira A., Provost N., Pereon Y., Cherel Y., Ali R.R., Hamel C., Moullier P. Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium. Bull. Mem. Acad. R Med. Belg. 2006, 161:497-508. Discussion 5080-499.
215. Roux A.F., Faugere V., Le Guedard S., Pallares-Ruiz N., Vielle A., Chambert S., Marlin S., Hamel C., Gilbert B., Malcolm S., Claustres M. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J. Med. Genet. 2006, 43:763-768.
216. Rozet J.M., Perrault I., Gerber S., Hanein S., Barbet F., Ducroq D., Souied E., Munnich A., Kaplan J. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). Invest. Ophthalmol. Vis. Sci. 2001, 42:1190-1192.
217. Rutkowski D.T., Kaufman R.J. A trip to the ER: coping with stress. Trends Cell. Biol. 2004, 14:20-28.
218. Ryan S.J. The development of an experimental model of subretinal neovascularization in disciform macular degeneration. Trans. Am. Ophthalmol. Soc. 1979, 77:707-745.
219. Saint-Geniez M., Maharaj A.S., Walshe T.E., Tucker B.A., Sekiyama E., Kurihara T., Darland D.C., Young M.J., D'Amore P.A. Endogenous VEGF is required for visual function: evidence for a survival role on muller cells and photoreceptors. PLoS One 2008, 3:e3554.
220. Sakuma H., Inana G., Murakami A., Higashide T., McLaren M.J. Immunolocalization of X-arrestin in human cone photoreceptors. FEBS Lett. 1996, 382:105-110.
221. Saliba R.S., Munro P.M., Luthert P.J., Cheetham M.E. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J. Cell. Sci. 2002, 115:2907-2918.
222. Schlichtenbrede F.C., da Cruz L., Stephens C., Smith A.J., Georgiadis A., Thrasher A.J., Bainbridge J.W., Seeliger M.W., Ali R.R. Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy. J. Gene Med. 2003, 5:757-764.
223. Schnepp B.C., Clark K.R., Klemanski D.L., Pacak C.A., Johnson P.R. Genetic fate of recombinant adeno-associated virus vector genomes in muscle. J. Virol. 2003, 77:3495-3504.
224. Seabra M.C., Mules E.H., Hume A.N. Rab GTPases, intracellular traffic and disease. Trends Mol. Med. 2002, 8:23-30.
225. Semple-Rowland S.L., Lee N.R., Van Hooser J.P., Palczewski K., Baehr W. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:1271-1276.
226. Sergeev Y.V., Smaoui N., Sui R., Stiles D., Gordiyenko N., Strunnikova N., Macdonald I.M. The functional effect of pathogenic mutations in Rab escort protein 1. Mutat. Res. 2009, 665:44-50.
227. Serguera C., Bohl D., Rolland E., Prevost P., Heard J.M. Control of erythropoietin secretion by doxycycline or mifepristone in mice bearing polymer-encapsulated engineered cells. Hum. Gene Ther. 1999, 10:375-383.
228. Shamu C.E. Splicing together the unfolded-protein response. Curr. Biol. 1997, 7:R67-R70.
229. Shan H., Ji D., Barnard A.R., Lipinski D.M., You Q., Lee E.J., Kamalden T.A., Sun X., MacLaren R.E. AAV-mediated gene transfer of human X-linked inhibitor of apoptosis protects against oxidative cell death in human RPE cells. Invest. Ophthalmol. Vis. Sci. 2011, 52:9591-9597.
230. Shen W.Y., Lee S.Y., Yeo I., Lai C.M., Mathur R., Tan D., Constable I.J., Rakoczy P.E. Predilection of the macular region to high incidence of choroidal neovascularization after intense laser photocoagulation in the monkey. Arch. Ophthalmol. 2004, 122:353-360.
231. Smith A.J., Schlichtenbrede F.C., Tschernutter M., Bainbridge J.W., Thrasher A.J., Ali R.R. AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa. Mol. Ther. 2003, 8:188-195.
232. Sohocki M.M., Sullivan L.S., Mintz-Hittner H.A., Birch D., Heckenlively J.R., Freund C.L., McInnes R.R., Daiger S.P. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am. J. Hum. Genet. 1998, 63:1307-1315.
233. Sonntag F., Bleker S., Leuchs B., Fischer R., Kleinschmidt J.A. Adeno-associated virus type 2 capsids with externalized VP1/VP2 trafficking domains are generated prior to passage through the cytoplasm and are maintained until uncoating occurs in the nucleus. J. Virol. 2006, 80:11040-11054.
234. Souied E.H., Reid S.N., Piri N.I., Lerner L.E., Nusinowitz S., Farber D.B. Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration. Exp. Eye Res. 2008, 87:168-175.
235. Spandau U.H., Rohrschneider K. Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch. Clin. Exp. Ophthalmol. 2002, 240:495-498.
236. Spencer B., Agarwala S., Miskulin M., Smith M., Brandt C.R. Herpes simplex virus-mediated gene delivery to the rodent visual system. Invest. Ophthalmol. Vis. Sci. 2000, 41:1392-1401.
237. Srivastava A., Lusby E.W., Berns K.I. Nucleotide sequence and organization of the adeno-associated virus 2 genome. J. Virol. 1983, 45:555-564.
238. Stargart K.B. über familiäre, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Ophthalmol. 1909, 71:534-550.
239. Steele F.R., Chader G.J., Johnson L.V., Tombran-Tink J. Pigment epithelium-derived factor: neurotrophic activity and identification as a member of the serine protease inhibitor gene family. Proc. Natl. Acad. Sci. U. S. A. 1993, 90:1526-1530.
240. Stieger K., Le Meur G., Lasne F., Weber M., Deschamps J.Y., Nivard D., Mendes-Madeira A., Provost N., Martin L., Moullier P., Rolling F. Long-term doxycycline-regulated transgene expression in the retina of nonhuman primates following subretinal injection of recombinant AAV vectors. Mol. Ther. 2006, 13:967-975.
241. Stieger K., Colle M.A., Dubreil L., Mendes-Madeira A., Weber M., Le Meur G., Deschamps J.Y., Provost N., Nivard D., Cherel Y., Moullier P., Rolling F. Subretinal delivery of recombinant AAV serotype 8 vector in dogs results in gene transfer to neurons in the brain. Mol. Ther. 2008, 16:916-923.
242. Stieger K., Belbellaa B., Le Guiner C., Moullier P., Rolling F. In vivo gene regulation using tetracycline-regulatable systems. Adv. Drug Deliv. Rev. 2009, 61:527-541.
243. Sullivan T., Kodali K., Rex T.S. Systemic gene delivery protects the photoreceptors in the retinal degeneration slow mouse. Neurochem. Res. 2011, 36:613-618.
244. Summerford C., Samulski R.J. Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions. J. Virol. 1998, 72:1438-1445.
245. Summerford C., Bartlett J.S., Samulski R.J. AlphaVbeta5 integrin: a co-receptor for adeno-associated virus type 2 infection. Nat. Med. 1999, 5:78-82.
246. Sun X., Pawlyk B., Xu X., Liu X., Bulgakov O.V., Adamian M., Sandberg M.A., Khani S.C., Tan M.H., Smith A.J., Ali R.R., Li T. Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. Gene Ther. 2010, 17:117-131.
247. Sweigard J.H., Cashman S.M., Kumar-Singh R. Adenovirus vectors targeting distinct cell types in the retina. Invest. Ophthalmol. Vis. Sci. 2010, 51:2219-2228.
248. Tam L.C., Kiang A.S., Kennan A., Kenna P.F., Chadderton N., Ader M., Palfi A., Aherne A., Ayuso C., Campbell M., Reynolds A., McKee A., Humphries M.M., Farrar G.J., Humphries P. Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). Hum. Mol. Genet. 2008, 17:2084-2100.
249. Thiadens A.A., den Hollander A.I., Roosing S., Nabuurs S.B., Zekveld-Vroon R.C., Collin R.W., De Baere E., Koenekoop R.K., van Schooneveld M.J., Strom T.M., van Lith-Verhoeven J.J., Lotery A.J., van Moll-Ramirez N., Leroy B.P., van den Born L.I., Hoyng C.B., Cremers F.P., Klaver C.C. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 2009, 85:240-247.
250. Thompson D.A., Gyurus P., Fleischer L.L., Bingham E.L., McHenry C.L., Apfelstedt-Sylla E., Zrenner E., Lorenz B., Richards J.E., Jacobson S.G., Sieving P.A., Gal A. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest. Ophthalmol. Vis. Sci. 2000, 41:4293-4299.
251. Tolentino M.J., Husain D., Theodosiadis P., Gragoudas E.S., Connolly E., Kahn J., Cleland J., Adamis A.P., Cuthbertson A., Miller J.W. Angiography of fluoresceinated anti-vascular endothelial growth factor antibody and dextrans in experimental choroidal neovascularization. Arch. Ophthalmol. 2000, 118:78-84.
252. Tolmachova T., Wavre-Shapton S.T., Barnard A.R., MacLaren R.E., Futter C.E., Seabra M.C. Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia. Invest. Ophthalmol. Vis. Sci. 2010, 51:4913-4920.
253. Tolmachova T., Tolmachov O.E., Wavre-Shapton S.T., Tracey-White D., Futter C.E., Seabra M.C. CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the RPE of choroideremia mice. J. Gene Med. 2012 Mar, 14(3):158-168.
254. Tombran-Tink J., Shivaram S.M., Chader G.J., Johnson L.V., Bok D. Expression, secretion, and age-related downregulation of pigment epithelium-derived factor, a serpin with neurotrophic activity. J. Neurosci. 1995, 15:4992-5003.
255. Tsybovsky Y., Molday R.S., Palczewski K. The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease. Adv. Exp. Med. Biol. 2010, 703:105-125.
256. Usher, C.H., 1914. On the Inheritance of Retinitis pigmentosa with Notes of Cases. R. Lond. Ophthalmol. Hosp. Rep., vol. 19, pp. 130-236.
257. van de Pavert S.A., Sanz A.S., Aartsen W.M., Vos R.M., Versteeg I., Beck S.C., Klooster J., Seeliger M.W., Wijnholds J. Crb1 is a determinant of retinal apical Muller glia cell features. Glia 2007, 55:1486-1497.
258. van den Hurk J.A., Hendriks W., van de Pol D.J., Oerlemans F., Jaissle G., Ruther K., Kohler K., Hartmann J., Zrenner E., van Bokhoven H., Wieringa B., Ropers H.H., Cremers F.P. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum. Mol. Genet. 1997, 6:851-858.
259. Vandenberghe L.H., Bell P., Maguire A.M., Cearley C.N., Xiao R., Calcedo R., Wang L., Castle M.J., Maguire A.C., Grant R., Wolfe J.H., Wilson J.M., Bennett J. Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey. Sci. Transl Med. 2011, 3. 88ra54.
260. Vollrath D., Feng W., Duncan J.L., Yasumura D., D'Cruz P.M., Chappelow A., Matthes M.T., Kay M.A., LaVail M.M. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:12584-12589.
261. von Graefe A. Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Graefes Arch. Klin. Exp. Ophthalmol. 1858, 4:250-253.
262. Wang J., Faust S.M., Rabinowitz J.E. The next step in gene delivery: molecular engineering of adeno-associated virus serotypes. J. Mol. Cell. Cardiol. 2011, 50:793-802.
263. Wanisch K., Yanez-Munoz R.J. Integration-deficient lentiviral vectors: a slow coming of age. Mol. Ther. 2009, 17:1316-1332.
264. Weleber R.G., Francis P.J., Trzupek K.M. Leber Congenital Amaurosis 1993.
265. Weng J., Mata N.L., Azarian S.M., Tzekov R.T., Birch D.G., Travis G.H. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999, 98:13-23.
266. Williams M.L., Coleman J.E., Haire S.E., Aleman T.S., Cideciyan A.V., Sokal I., Palczewski K., Jacobson S.G., Semple-Rowland S.L. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Med. 2006, 3:e201.
267. Williams D.S. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vis. Res. 2008, 48:433-441.
268. Wissinger B., Gamer D., Jagle H., Giorda R., Marx T., Mayer S., Tippmann S., Broghammer M., Jurklies B., Rosenberg T., Jacobson S.G., Sener E.C., Tatlipinar S., Hoyng C.B., Castellan C., Bitoun P., Andreasson S., Rudolph G., Kellner U., Lorenz B., Wolff G., Verellen-Dumoulin C., Schwartz M., Cremers F.P., Apfelstedt-Sylla E., Zrenner E., Salati R., Sharpe L.T., Kohl S. CNGA3 mutations in hereditary cone photoreceptor disorders. Am. J. Hum. Genet. 2001, 69:722-737.
269. Wissmann A., Meier I., Wray L.V., Geissendorfer M., Hillen W. Tn10 tet operator mutations affecting Tet repressor recognition. Nucleic Acids Res. 1986, 14:4253-4266.
270. Wu P., Phillips M.I., Bui J., Terwilliger E.F. Adeno-associated virus vector-mediated transgene integration into neurons and other nondividing cell targets. J. Virol. 1998, 72:5919-5926.
271. Wu P., Xiao W., Conlon T., Hughes J., Agbandje-McKenna M., Ferkol T., Flotte T., Muzyczka N. Mutational analysis of the adeno-associated virus type 2 (AAV2) capsid gene and construction of AAV2 vectors with altered tropism. J. Virol. 2000, 74:8635-8647.
272. Wu Z., Yang H., Colosi P. Effect of genome size on AAV vector packaging. Mol. Ther. 2010, 18:80-86.
273. Xiao X., Guo X., Jia X., Li S., Wang P., Zhang Q. A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. Mol. Vis. 2011, 17:3271-3278.
274. Yan D., Liu X.Z. Genetics and pathological mechanisms of Usher syndrome. J. Hum. Genet. 2010, 55:327-335.
275. Yan Z., Zhang Y., Duan D., Engelhardt J.F. Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:6716-6721.
276. Yanez-Munoz R.J., Balaggan K.S., MacNeil A., Howe S.J., Schmidt M., Smith A.J., Buch P., MacLaren R.E., Anderson P.N., Barker S.E., Duran Y., Bartholomae C., von Kalle C., Heckenlively J.R., Kinnon C., Ali R.R., Thrasher A.J. Effective gene therapy with nonintegrating lentiviral vectors. Nat. Med. 2006, 12:348-353.
277. Ye X., Rivera V.M., Zoltick P., Cerasoli F., Schnell M.A., Gao G., Hughes J.V., Gilman M., Wilson J.M. Regulated delivery of therapeutic proteins after in vivo somatic cell gene transfer. Science 1999, 283:88-91.
278. Yin L., Greenberg K., Hunter J.J., Dalkara D., Kolstad K.D., Masella B.D., Wolfe R., Visel M., Stone D., Libby R.T., Diloreto D., Schaffer D., Flannery J., Williams D.R., Merigan W.H. Intravitreal injection of AAV2 transduces macaque inner retina. Invest. Ophthalmol. Vis. Sci. 2011, 52:2775-2783.
279. Yokoi K., Kachi S., Zhang H.S., Gregory P.D., Spratt S.K., Samulski R.J., Campochiaro P.A. Ocular gene transfer with self-complementary AAV vectors. Invest. Ophthalmol. Vis. Sci. 2007, 48:3324-3328.
280. Zadro-Lamoureux L.A., Zacks D.N., Baker A.N., Zheng Q.D., Hauswirth W.W., Tsilfidis C. XIAP effects on retinal detachment-induced photoreceptor apoptosis [corrected]. Invest. Ophthalmol. Vis. Sci. 2009, 50:1448-1453.
281. Zhang M., Yan M., Wang L., Zhang J.J., Liu B., Meng D., Du C.F. Experimental choroidal neovascularization induced by laser in the eyes of rhesus monkeys. Sichuan Da Xue Xue Bao Yi Xue Ban 2008, 39:567-569. 574.
282. Zhong L., Li B., Jayandharan G., Mah C.S., Govindasamy L., Agbandje-McKenna M., Herzog R.W., Weigel-Van Aken K.A., Hobbs J.A., Zolotukhin S., Muzyczka N., Srivastava A. Tyrosine-phosphorylation of AAV2 vectors and its consequences on viral intracellular trafficking and transgene expression. Virology 2008, 381:194-202.
283. Zincarelli C., Soltys S., Rengo G., Rabinowitz J.E. Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection. Mol. Ther. 2008, 16:1073-1080.
284. Zou J., Luo L., Shen Z., Chiodo V.A., Ambati B.K., Hauswirth W.W., Yang J. Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest. Ophthalmol. Vis. Sci. 2011, 52:2343-2351.