메뉴 건너뛰기




Volumn 12, Issue 3, 2012, Pages 316-330

AAV-mediated gene therapy in mouse models of recessive retinal degeneration

Author keywords

Adeno associated viral vector; Gene therapy; Inherited retinal disease; Monogenic recessive mutation; Mouse model

Indexed keywords

ARYL HYDROCARBON INTERACTING PROTEIN LIKE 1; LECITHIN RETINOL ACYL TRANSFERASE; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 84863115790     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/156652412799218877     Document Type: Review
Times cited : (18)

References (150)
  • 1
    • 0035371211 scopus 로고    scopus 로고
    • Molecular genetics and prospects for therapy of the inherited retinal dystrophies
    • Bessant DA, Ali RR, Bhattacharya SS. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 2001; 11: 307-316.
    • (2001) Curr Opin Genet Dev , vol.11 , pp. 307-316
    • Bessant, D.A.1    Ali, R.R.2    Bhattacharya, S.S.3
  • 2
    • 33846593490 scopus 로고    scopus 로고
    • Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study
    • Xu L, Hu L, Ma K, Li J, Jonas JB. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study. Eur J Ophthalmol 2006; 16: 865-866.
    • (2006) Eur J Ophthalmol , vol.16 , pp. 865-866
    • Xu, L.1    Hu, L.2    Ma, K.3    Li, J.4    Jonas, J.B.5
  • 3
    • 51549112053 scopus 로고    scopus 로고
    • Prevalence of retinitis pigmentosa in South Indian population aged above 40 years
    • Sen P, Bhargava A, George R, et al. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol 2008; 15: 279-281.
    • (2008) Ophthalmic Epidemiol , vol.15 , pp. 279-281
    • Sen, P.1    Bhargava, A.2    George, R.3
  • 4
    • 44249120315 scopus 로고    scopus 로고
    • Effect of gene therapy on visual function in Leber's congenital amaurosis
    • Bainbridge JW, Smith AJ, Barker SS, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008; 358: 2231-2239.
    • (2008) N Engl J Med , vol.358 , pp. 2231-2239
    • Bainbridge, J.W.1    Smith, A.J.2    Barker, S.S.3
  • 5
    • 54949104686 scopus 로고    scopus 로고
    • 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
    • Hauswirth WW, Aleman TS, Kaushal S, et al. 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 2008; 19: 979-990.
    • (2008) Hum Gene Ther , vol.19 , pp. 979-990
    • Hauswirth, W.W.1    Aleman, T.S.2    Kaushal, S.3
  • 6
    • 44249085878 scopus 로고    scopus 로고
    • Safety and efficacy of gene transfer for Leber's congenital amaurosis
    • Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008; 358: 2240-2248.
    • (2008) N Engl J Med , vol.358 , pp. 2240-2248
    • Maguire, A.M.1    Simonelli, F.2    Pierce, E.A.3
  • 7
    • 54449085219 scopus 로고    scopus 로고
    • Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
    • Cideciyan AV, Aleman TS, Boye SL, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 2008; 105: 15112-15117.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 15112-15117
    • Cideciyan, A.V.1    Aleman, T.S.2    Boye, S.L.3
  • 8
    • 70349105559 scopus 로고    scopus 로고
    • Human RPE65 gene therapy for Leber congenital amaurosis: Persistence of early visual improvements and safety at 1 year
    • Cideciyan AV, Hauswirth WW, Aleman TS, et al. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther 2009; 20: 999-1004.
    • (2009) Hum Gene Ther , vol.20 , pp. 999-1004
    • Cideciyan, A.V.1    Hauswirth, W.W.2    Aleman, T.S.3
  • 9
    • 77954620055 scopus 로고    scopus 로고
    • Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
    • Cideciyan AV. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res 2010; 29: 398-427.
    • (2010) Prog Retin Eye Res , vol.29 , pp. 398-427
    • Cideciyan, A.V.1
  • 10
    • 77649242176 scopus 로고    scopus 로고
    • Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration
    • Simonelli F, Maguire AM, Testa F, et al. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther 2010; 18: 643-650.
    • (2010) Mol Ther , vol.18 , pp. 643-650
    • Simonelli, F.1    Maguire, A.M.2    Testa, F.3
  • 11
    • 0742321905 scopus 로고    scopus 로고
    • The nature of dominant mutations of rhodopsin and implications for gene therapy
    • Wilson JH, Wensel TG. The nature of dominant mutations of rhodopsin and implications for gene therapy. Mol Neurobiol 2003; 28: 149-158.
    • (2003) Mol Neurobiol , vol.28 , pp. 149-158
    • Wilson, J.H.1    Wensel, T.G.2
  • 12
    • 60849086182 scopus 로고    scopus 로고
    • Gene therapy following subretinal AAV5 vector delivery is not affected by a previous intravitreal AAV5 vector administration in the partner eye
    • Li W, Kong F, Li X, et al. Gene therapy following subretinal AAV5 vector delivery is not affected by a previous intravitreal AAV5 vector administration in the partner eye. Mol Vis 2009; 15: 267-275.
    • (2009) Mol Vis , vol.15 , pp. 267-275
    • Li, W.1    Kong, F.2    Li, X.3
  • 13
    • 54549125880 scopus 로고    scopus 로고
    • Intraocular route of AAV2 vector administration defines humoral immune response and therapeutic potential
    • Li Q, Miller R, Han PY, et al. Intraocular route of AAV2 vector administration defines humoral immune response and therapeutic potential. Mol Vis 2008; 14: 1760-1769.
    • (2008) Mol Vis , vol.14 , pp. 1760-1769
    • Li, Q.1    Miller, R.2    Han, P.Y.3
  • 14
    • 0033866038 scopus 로고    scopus 로고
    • The mammalian photoreceptor mosaicadaptive design
    • Ahnelt PK, Kolb H. The mammalian photoreceptor mosaicadaptive design. Prog Retin Eye Res 2000; 19: 711-777.
    • (2000) Prog Retin Eye Res , vol.19 , pp. 711-777
    • Ahnelt, P.K.1    Kolb, H.2
  • 15
    • 79955059185 scopus 로고    scopus 로고
    • Achromatopsia as a potential candidate for gene therapy
    • Pang J, Alexander J, Lei B, et al. Achromatopsia as a potential candidate for gene therapy. Adv Exp Med Biol 2010; 664: 639-646.
    • (2010) Adv Exp Med Biol , vol.664 , pp. 639-646
    • Pang, J.1    Alexander, J.2    Lei, B.3
  • 16
    • 79952261053 scopus 로고    scopus 로고
    • Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: A model for midcourse RPE65 leber congenital amaurosis
    • Li X, Li W, Dai X, et al. Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis. Invest Ophthalmol Vis Sci 2011; 52: 7-15.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 7-15
    • Li, X.1    Li, W.2    Dai, X.3
  • 17
    • 77954493492 scopus 로고    scopus 로고
    • Self-complementary AAVmediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency
    • Pang J, Boye SE, Lei B, et al. Self-complementary AAVmediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency. Gene Ther 2010; 17: 815-826.
    • (2010) Gene Ther , vol.17 , pp. 815-826
    • Pang, J.1    Boye, S.E.2    Lei, B.3
  • 18
    • 0026427027 scopus 로고
    • Retinal receptors in rodents maximally sensitive to ultraviolet light
    • Jacobs GH, Neitz J, Deegan JF. Retinal receptors in rodents maximally sensitive to ultraviolet light. Nature 1991; 353: 655-666.
    • (1991) Nature , vol.353 , pp. 655-666
    • Jacobs, G.H.1    Neitz, J.2    Deegan, J.F.3
  • 19
    • 38749124707 scopus 로고    scopus 로고
    • Comparative analysis of in vivo and in vitro AAV vector transduction in the neonatal mouse retina: Effects of serotype and site of administration
    • Pang J, Lauramore A, Deng WT, et al. Comparative analysis of in vivo and in vitro AAV vector transduction in the neonatal mouse retina: effects of serotype and site of administration. Vision Res 2008; 48: 377-385.
    • (2008) Vision Res , vol.48 , pp. 377-385
    • Pang, J.1    Lauramore, A.2    Deng, W.T.3
  • 20
    • 79551634862 scopus 로고    scopus 로고
    • Novel Properties of Tyrosine-mutant AAV2 Vectors in the Mouse Retina
    • Petrs-Silva H, Dinculescu A, Li Q, et al. Novel Properties of Tyrosine-mutant AAV2 Vectors in the Mouse Retina. Mol Ther 2011; 19: 293-301.
    • (2011) Mol Ther , vol.19 , pp. 293-301
    • Petrs-Silva, H.1    Dinculescu, A.2    Li, Q.3
  • 21
    • 61649095399 scopus 로고    scopus 로고
    • High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors
    • Petrs-Silva H, Dinculescu A, Li Q, et al. High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors. Mol Ther 2009; 17: 463-471.
    • (2009) Mol Ther , vol.17 , pp. 463-471
    • Petrs-Silva, H.1    Dinculescu, A.2    Li, Q.3
  • 22
    • 54849162100 scopus 로고    scopus 로고
    • Self-complementary AAV vectors; advances and applications
    • McCarty DM. Self-complementary AAV vectors; advances and applications. Mol Ther 2008; 16: 1648-1656.
    • (2008) Mol Ther , vol.16 , pp. 1648-1656
    • McCarty, D.M.1
  • 23
    • 0346777307 scopus 로고    scopus 로고
    • Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo
    • McCarty DM, Fu H, Monahan PE, Toulson CE, Naik P, Samulski RJ. Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo. Gene Ther 2003; 10: 2112-2118.
    • (2003) Gene Ther , vol.10 , pp. 2112-2118
    • McCarty, D.M.1    Fu, H.2    Monahan, P.E.3    Toulson, C.E.4    Naik, P.5    Samulski, R.J.6
  • 24
    • 77951235115 scopus 로고    scopus 로고
    • Self-complementary AAV5 vector facilitates quicker transgene expression in photoreceptor and retinal pigment epithelial cells of normal mouse
    • Kong F, Li W, Li X, et al. Self-complementary AAV5 vector facilitates quicker transgene expression in photoreceptor and retinal pigment epithelial cells of normal mouse. Exp Eye Res 2010; 90: 546-554.
    • (2010) Exp Eye Res , vol.90 , pp. 546-554
    • Kong, F.1    Li, W.2    Li, X.3
  • 25
    • 45549090635 scopus 로고    scopus 로고
    • Next generation of adenoassociated virus 2 vectors: Point mutations in tyrosines lead to high-efficiency transduction at lower doses
    • Zhong L, Li B, Mah CS, et al. Next generation of adenoassociated virus 2 vectors: point mutations in tyrosines lead to high-efficiency transduction at lower doses. Proc Natl Acad Sci USA 2008; 105: 7827-7832.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 7827-7832
    • Zhong, L.1    Li, B.2    Mah, C.S.3
  • 26
    • 79551620165 scopus 로고    scopus 로고
    • Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa
    • Pang J, Dai X, Boye SE, et al. Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa. Mol Ther 2011; 19: 234-242.
    • (2011) Mol Ther , vol.19 , pp. 234-242
    • Pang, J.1    Dai, X.2    Boye, S.E.3
  • 27
    • 0024990758 scopus 로고
    • Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase
    • Bowes C, Li T, Danciger M, Baxter LC, Applebury ML, Farber DB. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature 1990; 347: 677-680.
    • (1990) Nature , vol.347 , pp. 677-680
    • Bowes, C.1    Li, T.2    Danciger, M.3    Baxter, L.C.4    Applebury, M.L.5    Farber, D.B.6
  • 28
    • 12944293118 scopus 로고    scopus 로고
    • A deletion in aphotoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse
    • Akhmedov NB, Piriev NI, Chang B, et al. A deletion in aphotoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci USA 2000; 97: 5551-5556.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 5551-5556
    • Akhmedov, N.B.1    Piriev, N.I.2    Chang, B.3
  • 30
    • 73349130033 scopus 로고    scopus 로고
    • A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
    • Chang B, Grau T, Dangel S, et al. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci USA 2009; 106: 19581-19586.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 19581-19586
    • Chang, B.1    Grau, T.2    Dangel, S.3
  • 31
    • 0024571803 scopus 로고
    • Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
    • Travis GH, Brennan MB, Danielson PE, Kozak CA, Sutcliffe JG. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 1989; 338: 70-73.
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielson, P.E.3    Kozak, C.A.4    Sutcliffe, J.G.5
  • 32
    • 33846145693 scopus 로고    scopus 로고
    • Tool from ancient pharmacopoeia prevents vision loss
    • Boatright JH, Moring AG, McElroy C, et al. Tool from ancient pharmacopoeia prevents vision loss. Mol Vis 2006; 12: 1706-1714.
    • (2006) Mol Vis , vol.12 , pp. 1706-1714
    • Boatright, J.H.1    Moring, A.G.2    McElroy, C.3
  • 33
    • 20244379405 scopus 로고    scopus 로고
    • Retinal degeneration 6 (rd6): A new mouse model for human retinitis punctata albescens
    • Hawes NL, Chang B, Hageman GS, et al. Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci 2000; 41: 3149-3157.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3149-3157
    • Hawes, N.L.1    Chang, B.2    Hageman, G.S.3
  • 34
    • 0041335379 scopus 로고    scopus 로고
    • Mouse model of subretinal neovascularization with choroidal anastomosis
    • Heckenlively JR, Hawes NL, Friedlander M, et al. Mouse model of subretinal neovascularization with choroidal anastomosis. Retina 2003; 23: 518-522.
    • (2003) Retina , vol.23 , pp. 518-522
    • Heckenlively, J.R.1    Hawes, N.L.2    Friedlander, M.3
  • 35
    • 20844450821 scopus 로고    scopus 로고
    • Retinal degeneration 12 (rd12): A new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA)
    • Pang J, Chang B, Hawes NL, et al. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis 2005; 11: 152-162.
    • (2005) Mol Vis , vol.11 , pp. 152-162
    • Pang, J.1    Chang, B.2    Hawes, N.L.3
  • 36
    • 33744757686 scopus 로고    scopus 로고
    • 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
    • Chang B, Khanna H, Hawes N, et al. 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.
    • (2006) Hum Mol Genet , vol.15 , pp. 1847-1857
    • Chang, B.1    Khanna, H.2    Hawes, N.3
  • 37
    • 34247146385 scopus 로고    scopus 로고
    • Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
    • Chang B, Dacey MS, Hawes NL, et al. 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.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 5017-5021
    • Chang, B.1    Dacey, M.S.2    Hawes, N.L.3
  • 38
    • 33644872908 scopus 로고    scopus 로고
    • The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses
    • Chang B, Heckenlively JR, Bayley PR, et al. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci 2006; 23: 11-24.
    • (2006) Vis Neurosci , vol.23 , pp. 11-24
    • Chang, B.1    Heckenlively, J.R.2    Bayley, P.R.3
  • 39
    • 33846126652 scopus 로고    scopus 로고
    • Two mouse retinal degenerations caused by missense mutations in the betasubunit of rod cGMP phosphodiesterase gene
    • Chang B, Hawes NL, Pardue MT, et al. Two mouse retinal degenerations caused by missense mutations in the betasubunit of rod cGMP phosphodiesterase gene. Vision Res 2007; 47: 624-633.
    • (2007) Vision Res , vol.47 , pp. 624-633
    • Chang, B.1    Hawes, N.L.2    Pardue, M.T.3
  • 41
    • 83055187553 scopus 로고    scopus 로고
    • Mouse model resources for vision research
    • Won J, Shi LY, Hicks W, et al. Mouse model resources for vision research. J Ophthalmol 2011; 2011: 391384.
    • (2011) J Ophthalmol , vol.2011 , pp. 391384
    • Won, J.1    Shi, L.Y.2    Hicks, W.3
  • 42
    • 12144286591 scopus 로고    scopus 로고
    • Lecithin-retinol acyltransferase is essential for accumulation of all-transretinyl esters in the eye and in the liver
    • Batten ML, Imanishi Y, Maeda T, et al. Lecithin-retinol acyltransferase is essential for accumulation of all-transretinyl esters in the eye and in the liver. J Biol Chem 2004; 279: 10422-10432.
    • (2004) J Biol Chem , vol.279 , pp. 10422-10432
    • Batten, M.L.1    Imanishi, Y.2    Maeda, T.3
  • 43
    • 70450164177 scopus 로고    scopus 로고
    • Impaired cone function and cone degeneration resulting from CNGB3 deficiency: Down-regulation of CNGA3 biosynthesis as a potential mechanism
    • Ding XQ, Harry CS, Umino Y, Matveev AV, Fliesler SJ, Barlow RB. Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. Hum Mol Genet 2009; 18: 4770-4780.
    • (2009) Hum Mol Genet , vol.18 , pp. 4770-4780
    • Ding, X.Q.1    Harry, C.S.2    Umino, Y.3    Matveev, A.V.4    Fliesler, S.J.5    Barlow, R.B.6
  • 44
    • 0033582173 scopus 로고    scopus 로고
    • Morphological, physiological, and biochemical changes in rhodopsin knockout mice
    • Lem J, Krasnoperova NV, Calvert PD, et al. Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc Natl Acad Sci U S A 1999; 96: 736-741.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 736-741
    • Lem, J.1    Krasnoperova, N.V.2    Calvert, P.D.3
  • 45
    • 17344366357 scopus 로고    scopus 로고
    • Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
    • Redmond TM, Yu S, Lee E, et al. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet 1998; 20: 344-351.
    • (1998) Nat Genet , vol.20 , pp. 344-351
    • Redmond, T.M.1    Yu, S.2    Lee, E.3
  • 46
    • 4344674756 scopus 로고    scopus 로고
    • RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of XLinked Retinoschisis
    • Zeng Y, Takada Y, Kjellstrom S, et al. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of XLinked Retinoschisis. Invest Ophthalmol Vis Sci 2004; 45: 3279-3285.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3279-3285
    • Zeng, Y.1    Takada, Y.2    Kjellstrom, S.3
  • 47
    • 0033565767 scopus 로고    scopus 로고
    • Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior
    • Yang RB, Robinson SW, Xiong WH, Yau KW, Birch DG, Garbers DL. Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. J Neurosci 1999; 19: 5889-5897.
    • (1999) J Neurosci , vol.19 , pp. 5889-5897
    • Yang, R.B.1    Robinson, S.W.2    Xiong, W.H.3    Yau, K.W.4    Birch, D.G.5    Garbers, D.L.6
  • 48
    • 32944473999 scopus 로고    scopus 로고
    • Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
    • Pang J, Chang B, Kumar A, et al. Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol Ther 2006; 13: 565-572.
    • (2006) Mol Ther , vol.13 , pp. 565-572
    • Pang, J.1    Chang, B.2    Kumar, A.3
  • 49
    • 36248964755 scopus 로고    scopus 로고
    • Leber congenital amaurosis -a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
    • Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144: 791-811.
    • (2007) Am J Ophthalmol , vol.144 , pp. 791-811
    • Stone, E.M.1
  • 50
    • 68849088569 scopus 로고    scopus 로고
    • Vision 1 year after gene therapy for Leber's congenital amaurosis
    • Cideciyan AV, Hauswirth WW, Aleman TS, et al. Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med 2009; 361: 725-727.
    • (2009) N Engl J Med , vol.361 , pp. 725-727
    • Cideciyan, A.V.1    Hauswirth, W.W.2    Aleman, T.S.3
  • 51
    • 33748664605 scopus 로고    scopus 로고
    • Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    • den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79: 556-561.
    • (2006) Am J Hum Genet , vol.79 , pp. 556-561
    • den Hollander, A.I.1    Koenekoop, R.K.2    Yzer, S.3
  • 53
    • 61549143392 scopus 로고    scopus 로고
    • Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa
    • Wang H, den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet 2009; 84: 380-387.
    • (2009) Am J Hum Genet , vol.84 , pp. 380-387
    • Wang, H.1    den Hollander, A.I.2    Moayedi, Y.3
  • 54
    • 0032037626 scopus 로고    scopus 로고
    • De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
    • Freund CL, Wang QL, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998; 18: 311-312.
    • (1998) Nat Genet , vol.18 , pp. 311-312
    • Freund, C.L.1    Wang, Q.L.2    Chen, S.3
  • 55
    • 0032929074 scopus 로고    scopus 로고
    • Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
    • Swaroop A, Wang QL, Wu W, et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 1999; 8: 299-305.
    • (1999) Hum Mol Genet , vol.8 , pp. 299-305
    • Swaroop, A.1    Wang, Q.L.2    Wu, W.3
  • 56
    • 0031790083 scopus 로고    scopus 로고
    • Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene
    • Jacobson SG, Cideciyan AV, Huang Y, et al. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci 1998; 39: 2417-2426.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2417-2426
    • Jacobson, S.G.1    Cideciyan, A.V.2    Huang, Y.3
  • 57
    • 16744367868 scopus 로고    scopus 로고
    • Prevalence of AIPL1 mutations in inherited retinal degenerative disease
    • Sohocki MM, Perrault I, Leroy BP, et al. Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab 2000; 70: 142-150.
    • (2000) Mol Genet Metab , vol.70 , pp. 142-150
    • Sohocki, M.M.1    Perrault, I.2    Leroy, B.P.3
  • 58
    • 0031252434 scopus 로고    scopus 로고
    • Mutations in RPE65 cause Leber's congenital amaurosis
    • Marlhens F, Bareil C, Griffoin JM, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 1997; 17: 139-141.
    • (1997) Nat Genet , vol.17 , pp. 139-141
    • Marlhens, F.1    Bareil, C.2    Griffoin, J.M.3
  • 59
    • 0033362015 scopus 로고    scopus 로고
    • Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
    • Perrault I, Rozet JM, Ghazi I, et al. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am J Hum Genet 1999; 64: 1225-1228.
    • (1999) Am J Hum Genet , vol.64 , pp. 1225-1228
    • Perrault, I.1    Rozet, J.M.2    Ghazi, I.3
  • 60
    • 3542999277 scopus 로고    scopus 로고
    • Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
    • Janecke AR, Thompson DA, Utermann G, et al. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet 2004; 36: 850-854.
    • (2004) Nat Genet , vol.36 , pp. 850-854
    • Janecke, A.R.1    Thompson, D.A.2    Utermann, G.3
  • 61
    • 4544229215 scopus 로고    scopus 로고
    • Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis
    • Perrault I, Hanein S, Gerber S, et al. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet 2004; 75: 639-646.
    • (2004) Am J Hum Genet , vol.75 , pp. 639-646
    • Perrault, I.1    Hanein, S.2    Gerber, S.3
  • 62
    • 0031942582 scopus 로고    scopus 로고
    • Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
    • Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet 1998; 18: 174-176.
    • (1998) Nat Genet , vol.18 , pp. 174-176
    • Hagstrom, S.A.1    North, M.A.2    Nishina, P.L.3    Berson, E.L.4    Dryja, T.P.5
  • 63
    • 17944371280 scopus 로고    scopus 로고
    • Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    • Gerber S, Perrault I, Hanein S, et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet 2001; 9: 561-571.
    • (2001) Eur J Hum Genet , vol.9 , pp. 561-571
    • Gerber, S.1    Perrault, I.2    Hanein, S.3
  • 64
    • 0035004268 scopus 로고    scopus 로고
    • Null RPGRIP1 alleles in patients with Leber congenital amaurosis
    • Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 2001; 68: 1295-1298.
    • (2001) Am J Hum Genet , vol.68 , pp. 1295-1298
    • Dryja, T.P.1    Adams, S.M.2    Grimsby, J.L.3
  • 65
    • 34347344977 scopus 로고    scopus 로고
    • Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    • den Hollander AI, Koenekoop RK, Mohamed MD, et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 2007; 39: 889-895.
    • (2007) Nat Genet , vol.39 , pp. 889-895
    • den Hollander, A.I.1    Koenekoop, R.K.2    Mohamed, M.D.3
  • 66
    • 0033757463 scopus 로고    scopus 로고
    • Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
    • Gal A, Li Y, Thompson DA, et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 2000; 26: 270-271.
    • (2000) Nat Genet , vol.26 , pp. 270-271
    • Gal, A.1    Li, Y.2    Thompson, D.A.3
  • 67
    • 33845205060 scopus 로고    scopus 로고
    • Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
    • Friedman JS, Chang B, Kannabiran C, et al. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 2006; 79: 1059-1070.
    • (2006) Am J Hum Genet , vol.79 , pp. 1059-1070
    • Friedman, J.S.1    Chang, B.2    Kannabiran, C.3
  • 68
    • 77956208538 scopus 로고    scopus 로고
    • Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse
    • Boye SE, Boye SL, Pang J, et al. Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. PLoS One 2010; 5: e11306.
    • (2010) PLoS One , vol.5
    • Boye, S.E.1    Boye, S.L.2    Pang, J.3
  • 69
    • 33748537392 scopus 로고    scopus 로고
    • Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function
    • Nusinowitz S, Ridder WH, III, Pang J, et al. Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function. Vision Res 2006; 46: 3926-3934.
    • (2006) Vision Res , vol.46 , pp. 3926-3934
    • Nusinowitz, S.1    Ridder, W.H.2    Pang, J.3
  • 70
    • 74349104948 scopus 로고    scopus 로고
    • Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations
    • Sun X, Pawlyk B, Xu X, et al. Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. Gene Ther 2010; 17: 117-131.
    • (2010) Gene Ther , vol.17 , pp. 117-131
    • Sun, X.1    Pawlyk, B.2    Xu, X.3
  • 71
    • 66149101630 scopus 로고    scopus 로고
    • Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: Effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
    • Tan MH, Smith AJ, Pawlyk B, et al. Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Hum Mol Genet 2009; 18: 2099-2114.
    • (2009) Hum Mol Genet , vol.18 , pp. 2099-2114
    • Tan, M.H.1    Smith, A.J.2    Pawlyk, B.3
  • 72
    • 28444452653 scopus 로고    scopus 로고
    • Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis
    • Batten ML, Imanishi Y, Tu DC, et al. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. PLoS Med 2005; 2: e333.
    • (2005) PLoS Med , vol.2
    • Batten, M.L.1    Imanishi, Y.2    Tu, D.C.3
  • 73
    • 27244446791 scopus 로고    scopus 로고
    • Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
    • Pawlyk BS, Smith AJ, Buch PK, et al. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest Ophthalmol Vis Sci 2005; 46: 3039-3045.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3039-3045
    • Pawlyk, B.S.1    Smith, A.J.2    Buch, P.K.3
  • 74
    • 77955332214 scopus 로고    scopus 로고
    • Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis
    • Pawlyk BS, Bulgakov OV, Liu X, et al. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Hum Gene Ther 2010; 21: 993-1004.
    • (2010) Hum Gene Ther , vol.21 , pp. 993-1004
    • Pawlyk, B.S.1    Bulgakov, O.V.2    Liu, X.3
  • 75
    • 0033870580 scopus 로고    scopus 로고
    • Spectrum of retGC1 mutations in Leber's congenital amaurosis
    • Perrault I, Rozet JM, Gerber S, et al. Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur J Hum Genet 2000; 8: 578-582.
    • (2000) Eur J Hum Genet , vol.8 , pp. 578-582
    • Perrault, I.1    Rozet, J.M.2    Gerber, S.3
  • 76
    • 4644310251 scopus 로고    scopus 로고
    • Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice
    • Coleman JE, Zhang Y, Brown GA, Semple-Rowland SL. Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice. Invest Ophthalmol Vis Sci 2004; 45: 3397-3403.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3397-3403
    • Coleman, J.E.1    Zhang, Y.2    Brown, G.A.3    Semple-Rowland, S.L.4
  • 77
    • 33749139130 scopus 로고    scopus 로고
    • Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1
    • Haire SE, Pang J, Boye SL, et al. Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1. Invest Ophthalmol Vis Sci 2006; 47: 3745-3753.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3745-3753
    • Haire, S.E.1    Pang, J.2    Boye, S.L.3
  • 78
    • 0034754212 scopus 로고    scopus 로고
    • Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium
    • Katz ML, Redmond TM. Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 2001; 42: 3023-3030.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 3023-3030
    • Katz, M.L.1    Redmond, T.M.2
  • 79
    • 37849031514 scopus 로고    scopus 로고
    • R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cisretinal
    • Samardzija M, von Lintig J, Tanimoto N, et al. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cisretinal. Hum Mol Genet 2008; 17: 281-292.
    • (2008) Hum Mol Genet , vol.17 , pp. 281-292
    • Samardzija, M.1    von Lintig, J.2    Tanimoto, N.3
  • 80
    • 17944379443 scopus 로고    scopus 로고
    • New views on RPE65 deficiency: The rod system is the source of vision in a mouse model of Leber congenital amaurosis
    • Seeliger MW, Grimm C, Stahlberg F, et al. New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis. Nat Genet 2001; 29: 70-74.
    • (2001) Nat Genet , vol.29 , pp. 70-74
    • Seeliger, M.W.1    Grimm, C.2    Stahlberg, F.3
  • 81
    • 32944455040 scopus 로고    scopus 로고
    • Cone opsin mislocalization in Rpe65-/- mice: A defect that can be corrected by 11-cis retinal
    • Rohrer B, Lohr HR, Humphries P, et al. Cone opsin mislocalization in Rpe65-/- mice: a defect that can be corrected by 11-cis retinal. Invest Ophthalmol Vis Sci 2005; 46: 3876-3882.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3876-3882
    • Rohrer, B.1    Lohr, H.R.2    Humphries, P.3
  • 82
    • 10744230959 scopus 로고    scopus 로고
    • In utero gene therapy rescues vision in a murine model of congenital blindness
    • Dejneka NS, Surace EM, Aleman TS, et al. In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther 2004; 9: 182-188.
    • (2004) Mol Ther , vol.9 , pp. 182-188
    • Dejneka, N.S.1    Surace, E.M.2    Aleman, T.S.3
  • 83
    • 4243062734 scopus 로고    scopus 로고
    • Recombinant adenoassociated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue
    • Lai CM, Yu MJ, Brankov M, et al. Recombinant adenoassociated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue. Genet Vaccines Ther 2004; 2: 3.
    • (2004) Genet Vaccines Ther , vol.2 , pp. 3
    • Lai, C.M.1    Yu, M.J.2    Brankov, M.3
  • 84
    • 34748875980 scopus 로고    scopus 로고
    • Electroretinographic analyses of Rpe65-mutant rd12 mice: Developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis
    • Roman AJ, Boye SL, Aleman TS, et al. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. Mol Vis 2007; 13: 1701-1710.
    • (2007) Mol Vis , vol.13 , pp. 1701-1710
    • Roman, A.J.1    Boye, S.L.2    Aleman, T.S.3
  • 85
    • 77952983302 scopus 로고    scopus 로고
    • Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness
    • Amado D, Mingozzi F, Hui D, et al. Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness. Sci Transl Med 2010; 2: 21-216.
    • (2010) Sci Transl Med , vol.2 , pp. 21-216
    • Amado, D.1    Mingozzi, F.2    Hui, D.3
  • 86
    • 79751501177 scopus 로고    scopus 로고
    • Gene therapy regenerates protein expression in cone photoreceptors in rpe65 mice
    • Kostic C, Crippa SV, Pignat V, et al. Gene therapy regenerates protein expression in cone photoreceptors in rpe65 mice. PLoS One 2011; 6: e16588.
    • (2011) PLoS One , vol.6
    • Kostic, C.1    Crippa, S.V.2    Pignat, V.3
  • 87
    • 9744221915 scopus 로고    scopus 로고
    • Retinal degeneration in Aipl1-deficient mice: A new genetic model of Leber congenital amaurosis
    • Dyer MA, Donovan SL, Zhang J, et al. Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis. Brain Res Mol Brain Res 2004; 132: 208-220.
    • (2004) Brain Res Mol Brain Res , vol.132 , pp. 208-220
    • Dyer, M.A.1    Donovan, S.L.2    Zhang, J.3
  • 88
    • 4644256599 scopus 로고    scopus 로고
    • Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
    • Ramamurthy V, Niemi GA, Reh TA, Hurley JB. Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. Proc Natl Acad Sci USA 2004; 101: 13897-13902.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 13897-13902
    • Ramamurthy, V.1    Niemi, G.A.2    Reh, T.A.3    Hurley, J.B.4
  • 89
    • 62649141916 scopus 로고    scopus 로고
    • Mutation survey of known LCA genes and loci in the Saudi Arabian population
    • Li Y, Wang H, Peng J, et al. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci 2009; 50: 1336-1343.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 1336-1343
    • Li, Y.1    Wang, H.2    Peng, J.3
  • 90
    • 0037389431 scopus 로고    scopus 로고
    • The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis
    • Zhao Y, Hong DH, Pawlyk B, et al. The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci USA 2003; 100: 3965-3970.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 3965-3970
    • Zhao, Y.1    Hong, D.H.2    Pawlyk, B.3
  • 91
    • 0034973574 scopus 로고    scopus 로고
    • Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
    • Thompson DA, Li Y, McHenry CL, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet 2001; 28: 123-124.
    • (2001) Nat Genet , vol.28 , pp. 123-124
    • Thompson, D.A.1    Li, Y.2    McHenry, C.L.3
  • 92
    • 26444469568 scopus 로고    scopus 로고
    • Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice
    • Morrow EM, Furukawa T, Raviola E, Cepko CL. Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice. BMC Neurosci 2005; 6: 5.
    • (2005) BMC Neurosci , vol.6 , pp. 5
    • Morrow, E.M.1    Furukawa, T.2    Raviola, E.3    Cepko, C.L.4
  • 93
    • 0942298092 scopus 로고    scopus 로고
    • Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis
    • Pignatelli V, Cepko CL, Strettoi E. Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis. J Comp Neurol 2004; 469: 351-359.
    • (2004) J Comp Neurol , vol.469 , pp. 351-359
    • Pignatelli, V.1    Cepko, C.L.2    Strettoi, E.3
  • 96
    • 0035940504 scopus 로고    scopus 로고
    • Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk
    • Vollrath D, Feng W, Duncan JL, et al. Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc Natl Acad Sci USA 2001; 98: 12584-12589.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 12584-12589
    • Vollrath, D.1    Feng, W.2    Duncan, J.L.3
  • 97
    • 84925554375 scopus 로고
    • Inherited retinal dystrophy in the rat
    • Dowling JE, Sidman RL. Inherited retinal dystrophy in the rat. J Cell Biol 1962; 14: 73-109.
    • (1962) J Cell Biol , vol.14 , pp. 73-109
    • Dowling, J.E.1    Sidman, R.L.2
  • 98
    • 0016701996 scopus 로고
    • Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat
    • LaVail MM, Battelle BA. Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat. Exp Eye Res 1975; 21: 167-192.
    • (1975) Exp Eye Res , vol.21 , pp. 167-192
    • Lavail, M.M.1    Battelle, B.A.2
  • 99
    • 0347532886 scopus 로고    scopus 로고
    • Evaluation of inner retinal structure in the aged RCS rat
    • Ball S, Hanzlicek B, Blum M, Pardue M. Evaluation of inner retinal structure in the aged RCS rat. Adv Exp Med Biol 2003; 533: 181-188.
    • (2003) Adv Exp Med Biol , vol.533 , pp. 181-188
    • Ball, S.1    Hanzlicek, B.2    Blum, M.3    Pardue, M.4
  • 101
    • 0033559140 scopus 로고    scopus 로고
    • A novel receptor tyrosine kinase, Mer, inhibits TNF-alpha production and lipopolysaccharide-induced endotoxic shock
    • Camenisch TD, Koller BH, Earp HS, Matsushima GK. A novel receptor tyrosine kinase, Mer, inhibits TNF-alpha production and lipopolysaccharide-induced endotoxic shock. J Immunol 1999; 162: 3498-3503.
    • (1999) J Immunol , vol.162 , pp. 3498-3503
    • Camenisch, T.D.1    Koller, B.H.2    Earp, H.S.3    Matsushima, G.K.4
  • 103
    • 17644415316 scopus 로고    scopus 로고
    • Longterm preservation of retinal function in the RCS rat model of retinitis pigmentosa following lentivirus-mediated gene therapy
    • Tschernutter M, Schlichtenbrede FC, Howe S, et al. Longterm preservation of retinal function in the RCS rat model of retinitis pigmentosa following lentivirus-mediated gene therapy. Gene Ther 2005; 12: 694-701.
    • (2005) Gene Ther , vol.12 , pp. 694-701
    • Tschernutter, M.1    Schlichtenbrede, F.C.2    Howe, S.3
  • 104
    • 53449093170 scopus 로고    scopus 로고
    • AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation
    • Pang J, Boye SL, Kumar A, et al. AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation. Invest Ophthalmol Vis Sci 2008; 49: 4278-4283.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 4278-4283
    • Pang, J.1    Boye, S.L.2    Kumar, A.3
  • 105
    • 38749124706 scopus 로고    scopus 로고
    • Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
    • Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res 2008; 48: 433-441.
    • (2008) Vision Res , vol.48 , pp. 433-441
    • Williams, D.S.1
  • 106
    • 33749019339 scopus 로고    scopus 로고
    • Usher syndrome: Molecular links of pathogenesis, proteins and pathways
    • Spec No 2
    • Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006; 15 Spec No 2: R262-R270.
    • (2006) Hum Mol Genet , vol.15
    • Kremer, H.1    van Wijk, E.2    Marker, T.3    Wolfrum, U.4    Roepman, R.5
  • 107
    • 33646856845 scopus 로고    scopus 로고
    • Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    • Reiners J, Nagel-Wolfrum K, Jurgens K, Marker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 2006; 83: 97-119.
    • (2006) Exp Eye Res , vol.83 , pp. 97-119
    • Reiners, J.1    Nagel-Wolfrum, K.2    Jurgens, K.3    Marker, T.4    Wolfrum, U.5
  • 108
    • 33646884877 scopus 로고    scopus 로고
    • Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome
    • Reiners J, Wolfrum U. Molecular analysis of the supramolecular usher protein complex in the retina. Harmonin as the key protein of the Usher syndrome. Adv Exp Med Biol 2006; 572: 349-353.
    • (2006) Adv Exp Med Biol , vol.572 , pp. 349-353
    • Reiners, J.1    Wolfrum, U.2
  • 109
    • 33947370533 scopus 로고    scopus 로고
    • Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B
    • Hashimoto T, Gibbs D, Lillo C, et al. Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. Gene Ther 2007; 14: 584-594.
    • (2007) Gene Ther , vol.14 , pp. 584-594
    • Hashimoto, T.1    Gibbs, D.2    Lillo, C.3
  • 110
    • 0029893012 scopus 로고    scopus 로고
    • Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy
    • Bennett J, Tanabe T, Sun D, et al. Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy. Nat Med 1996; 2: 649-654.
    • (1996) Nat Med , vol.2 , pp. 649-654
    • Bennett, J.1    Tanabe, T.2    Sun, D.3
  • 111
    • 0030759730 scopus 로고    scopus 로고
    • Rescue of photoreceptor function by AAV-mediated gene transfer in a mouse model of inherited retinal degeneration
    • Jomary C, Vincent KA, Grist J, Neal MJ, Jones SE. Rescue of photoreceptor function by AAV-mediated gene transfer in a mouse model of inherited retinal degeneration. Gene Ther 1997; 4: 683-690.
    • (1997) Gene Ther , vol.4 , pp. 683-690
    • Jomary, C.1    Vincent, K.A.2    Grist, J.3    Neal, M.J.4    Jones, S.E.5
  • 112
    • 0032816002 scopus 로고    scopus 로고
    • Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer
    • Takahashi M, Miyoshi H, Verma IM, Gage FH. Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer. J Virol 1999; 73: 7812-7816.
    • (1999) J Virol , vol.73 , pp. 7812-7816
    • Takahashi, M.1    Miyoshi, H.2    Verma, I.M.3    Gage, F.H.4
  • 113
    • 0031795296 scopus 로고    scopus 로고
    • Encapsidated adenovirus minichromosome-mediated delivery of genes to the retina: Application to the rescue of photoreceptor degeneration
    • Kumar-Singh R, Farber DB. Encapsidated adenovirus minichromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration. Hum Mol Genet 1998; 7: 1893-1900.
    • (1998) Hum Mol Genet , vol.7 , pp. 1893-1900
    • Kumar-Singh, R.1    Farber, D.B.2
  • 114
    • 33845592141 scopus 로고    scopus 로고
    • Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: A morphological and ERG study
    • Gargini C, Terzibasi E, Mazzoni F, Strettoi E. Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: a morphological and ERG study. J Comp Neurol 2007; 500: 222-238.
    • (2007) J Comp Neurol , vol.500 , pp. 222-238
    • Gargini, C.1    Terzibasi, E.2    Mazzoni, F.3    Strettoi, E.4
  • 115
    • 33745905638 scopus 로고    scopus 로고
    • Efficiency of lentiviral transduction during development in normal and rd mice
    • Pang J, Cheng M, Haire SE, Barker E, Planelles V, Blanks JC. Efficiency of lentiviral transduction during development in normal and rd mice. Mol Vis 2006; 12: 756-767.
    • (2006) Mol Vis , vol.12 , pp. 756-767
    • Pang, J.1    Cheng, M.2    Haire, S.E.3    Barker, E.4    Planelles, V.5    Blanks, J.C.6
  • 116
    • 80053295514 scopus 로고    scopus 로고
    • AAVmediated gene replacement either alone or in combination with physical and pharmacological agents results in partial and transient protection from photoreceptor degeneration associated with {beta}PDE deficiency
    • Allocca M, Manfredi A, Iodice C, Di VU, Auricchio A. AAVmediated gene replacement either alone or in combination with physical and pharmacological agents results in partial and transient protection from photoreceptor degeneration associated with {beta}PDE deficiency. Invest Ophthalmol Vis Sci 2011; 52: 5713-5719.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 5713-5719
    • Allocca, M.1    Manfredi, A.2    Iodice, C.3    Di, V.U.4    Auricchio, A.5
  • 117
    • 0037173051 scopus 로고    scopus 로고
    • Two rhodopsins mediate phototaxis to low- and high-intensity light in Chlamydomonas reinhardtii
    • Sineshchekov OA, Jung KH, Spudich JL. Two rhodopsins mediate phototaxis to low- and high-intensity light in Chlamydomonas reinhardtii. Proc Natl Acad Sci USA 2002; 99: 8689-8694.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 8689-8694
    • Sineshchekov, O.A.1    Jung, K.H.2    Spudich, J.L.3
  • 118
    • 0345133280 scopus 로고    scopus 로고
    • Channelrhodopsin-2, a directly light-gated cation-selective membrane channel
    • Nagel G, Szellas T, Huhn W, et al. Channelrhodopsin-2, a directly light-gated cation-selective membrane channel. Proc Natl Acad Sci U S A 2003; 100: 13940-13945.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 13940-13945
    • Nagel, G.1    Szellas, T.2    Huhn, W.3
  • 119
    • 34648825493 scopus 로고    scopus 로고
    • Restoration of visual response in aged dystrophic RCS rats using AAV-mediated channelopsin-2 gene transfer
    • Tomita H, Sugano E, Yawo H, et al. Restoration of visual response in aged dystrophic RCS rats using AAV-mediated channelopsin-2 gene transfer. Invest Ophthalmol Vis Sci 2007; 48: 3821-3826.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 3821-3826
    • Tomita, H.1    Sugano, E.2    Yawo, H.3
  • 120
    • 33645974269 scopus 로고    scopus 로고
    • Ectopic expression of a microbialtype rhodopsin restores visual responses in mice with photoreceptor degeneration
    • Bi A, Cui J, Ma YP, et al. Ectopic expression of a microbialtype rhodopsin restores visual responses in mice with photoreceptor degeneration. Neuron 2006; 50: 23-33.
    • (2006) Neuron , vol.50 , pp. 23-33
    • Bi, A.1    Cui, J.2    Ma, Y.P.3
  • 121
    • 85027946862 scopus 로고    scopus 로고
    • Virally delivered Channelrhodopsin-2 Safely and Effectively Restores Visual Function in Multiple Mouse Models of Blindness
    • Doroudchi MM, Greenberg KP, Liu J, et al. Virally delivered Channelrhodopsin-2 Safely and Effectively Restores Visual Function in Multiple Mouse Models of Blindness. Mol Ther 2011; 19:1220-1229.
    • (2011) Mol Ther , vol.19 , pp. 1220-1229
    • Doroudchi, M.M.1    Greenberg, K.P.2    Liu, J.3
  • 122
    • 44349103098 scopus 로고    scopus 로고
    • Light-activated channels targeted to ON bipolar cells restore visual function in retinal degeneration
    • Lagali PS, Balya D, Awatramani GB, et al. Light-activated channels targeted to ON bipolar cells restore visual function in retinal degeneration. Nat Neurosci 2008; 11: 667-675.
    • (2008) Nat Neurosci , vol.11 , pp. 667-675
    • Lagali, P.S.1    Balya, D.2    Awatramani, G.B.3
  • 123
    • 77649182465 scopus 로고    scopus 로고
    • Channelrhodopsin-2 gene transduced into retinal ganglion cells restores functional vision in genetically blind rats
    • Tomita H, Sugano E, Isago H, et al. Channelrhodopsin-2 gene transduced into retinal ganglion cells restores functional vision in genetically blind rats. Exp Eye Res 2010; 90: 429-436.
    • (2010) Exp Eye Res , vol.90 , pp. 429-436
    • Tomita, H.1    Sugano, E.2    Isago, H.3
  • 124
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cellspecific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets R, Singh N, Sun H, et al. A photoreceptor cellspecific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997; 15: 236-246.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 125
    • 0030983124 scopus 로고    scopus 로고
    • The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
    • Azarian SM, Travis GH. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett 1997; 409: 247-252.
    • (1997) FEBS Lett , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 126
    • 0030969303 scopus 로고    scopus 로고
    • The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
    • Illing M, Molday LL, Molday RS. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem 1997; 272: 10303-10310.
    • (1997) J Biol Chem , vol.272 , pp. 10303-10310
    • Illing, M.1    Molday, L.L.2    Molday, R.S.3
  • 127
    • 0031606609 scopus 로고    scopus 로고
    • Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    • Martinez-Mir A, Paloma E, Allikmets R, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 1998; 18: 11-12.
    • (1998) Nat Genet , vol.18 , pp. 11-12
    • Martinez-Mir, A.1    Paloma, E.2    Allikmets, R.3
  • 128
    • 6844259885 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    • Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 1998; 7: 355-362.
    • (1998) Hum Mol Genet , vol.7 , pp. 355-362
    • Cremers, F.P.1    van de Pol, D.J.2    van Driel, M.3
  • 129
    • 13144294983 scopus 로고    scopus 로고
    • Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
    • Rozet JM, Gerber S, Souied E, et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 1998; 6: 291-295.
    • (1998) Eur J Hum Genet , vol.6 , pp. 291-295
    • Rozet, J.M.1    Gerber, S.2    Souied, E.3
  • 130
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH. 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.
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6
  • 131
    • 43049119982 scopus 로고    scopus 로고
    • Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice
    • Allocca M, Doria M, Petrillo M, et al. 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.
    • (2008) J Clin Invest , vol.118 , pp. 1955-1964
    • Allocca, M.1    Doria, M.2    Petrillo, M.3
  • 132
    • 0036071242 scopus 로고    scopus 로고
    • Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
    • Kohl S, Baumann B, Rosenberg T, et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 2002; 71: 422-425.
    • (2002) Am J Hum Genet , vol.71 , pp. 422-425
    • Kohl, S.1    Baumann, B.2    Rosenberg, T.3
  • 133
    • 0031803762 scopus 로고    scopus 로고
    • Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    • Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998; 19: 257-259.
    • (1998) Nat Genet , vol.19 , pp. 257-259
    • Kohl, S.1    Marx, T.2    Giddings, I.3
  • 134
    • 0034284696 scopus 로고    scopus 로고
    • 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
    • Kohl S, Baumann B, Broghammer M, et al. 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.
    • (2000) Hum Mol Genet , vol.9 , pp. 2107-2116
    • Kohl, S.1    Baumann, B.2    Broghammer, M.3
  • 135
    • 0033932760 scopus 로고    scopus 로고
    • Genetic basis of total colourblindness among the Pingelapese islanders
    • Sundin OH, Yang JM, Li Y, et al. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet 2000; 25: 289-293.
    • (2000) Nat Genet , vol.25 , pp. 289-293
    • Sundin, O.H.1    Yang, J.M.2    Li, Y.3
  • 136
    • 0036714572 scopus 로고    scopus 로고
    • Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)
    • Aligianis IA, Forshew T, Johnson S, et al. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet 2002; 39: 656-660.
    • (2002) J Med Genet , vol.39 , pp. 656-660
    • Aligianis, I.A.1    Forshew, T.2    Johnson, S.3
  • 137
    • 20144382218 scopus 로고    scopus 로고
    • CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    • Kohl S, Varsanyi B, Antunes GA, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 2005; 13: 302-308.
    • (2005) Eur J Hum Genet , vol.13 , pp. 302-308
    • Kohl, S.1    Varsanyi, B.2    Antunes, G.A.3
  • 138
    • 68349107942 scopus 로고    scopus 로고
    • Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
    • Thiadens AA, den Hollander AI, Roosing S, et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 2009; 85: 240-247.
    • (2009) Am J Hum Genet , vol.85 , pp. 240-247
    • Thiadens, A.A.1    den Hollander, A.I.2    Roosing, S.3
  • 139
    • 0034822311 scopus 로고    scopus 로고
    • CNGA3 mutations in hereditary cone photoreceptor disorders
    • Wissinger B, Gamer D, Jagle H, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet 2001; 69: 722-737.
    • (2001) Am J Hum Genet , vol.69 , pp. 722-737
    • Wissinger, B.1    Gamer, D.2    Jagle, H.3
  • 140
    • 0033595022 scopus 로고    scopus 로고
    • Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3
    • Biel M, Seeliger M, Pfeifer A, et al. Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. Proc Natl Acad Sci USA 1999; 96: 7553-7557.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 7553-7557
    • Biel, M.1    Seeliger, M.2    Pfeifer, A.3
  • 141
    • 34249987381 scopus 로고    scopus 로고
    • Restoration of cone vision in a mouse model of achromatopsia
    • Alexander JJ, Umino Y, Everhart D, et al. Restoration of cone vision in a mouse model of achromatopsia. Nat Med 2007; 13: 685-687.
    • (2007) Nat Med , vol.13 , pp. 685-687
    • Alexander, J.J.1    Umino, Y.2    Everhart, D.3
  • 142
    • 78650918670 scopus 로고    scopus 로고
    • Restoration of Cone Vision in the CNGA3(-/-) Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function
    • Michalakis S, Muhlfriedel R, Tanimoto N, et al. Restoration of Cone Vision in the CNGA3(-/-) Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function. Mol Ther 2010; 12: 2057-2063.
    • (2010) Mol Ther , vol.12 , pp. 2057-2063
    • Michalakis, S.1    Muhlfriedel, R.2    Tanimoto, N.3
  • 143
    • 79960785268 scopus 로고    scopus 로고
    • Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency
    • Xu J, Morris L, Fliesler SJ, Sherry DM, Ding XQ. Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency. Invest Ophthalmol Vis Sci 2011; 52: 3557-3566.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 3557-3566
    • Xu, J.1    Morris, L.2    Fliesler, S.J.3    Sherry, D.M.4    Ding, X.Q.5
  • 144
    • 79960832400 scopus 로고    scopus 로고
    • Long-term and agedependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
    • Carvalho LS, Xu J, Pearson RA, et al. Long-term and agedependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum Mol Genet 2011; 20: 3161-3175.
    • (2011) Hum Mol Genet , vol.20 , pp. 3161-3175
    • Carvalho, L.S.1    Xu, J.2    Pearson, R.A.3
  • 146
    • 0036314113 scopus 로고    scopus 로고
    • Hereditary Xlinked juvenile retinoschisis: A review of the role of Muller cells
    • Mooy CM, Van Den Born LI, Baarsma S, et al. Hereditary Xlinked juvenile retinoschisis: a review of the role of Muller cells. Arch Ophthalmol 2002; 120: 979-984.
    • (2002) Arch Ophthalmol , vol.120 , pp. 979-984
    • Mooy, C.M.1    van den Born, L.I.2    Baarsma, S.3
  • 148
    • 25144501446 scopus 로고    scopus 로고
    • Prolonged recovery of retinal structure/function after gene therapy in an Rs1h deficient mouse model of x-linked juvenile retinoschisis
    • Min SH, Molday LL, Seeliger MW, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h deficient mouse model of x-linked juvenile retinoschisis. Mol Ther 2005; 12: 644-651.
    • (2005) Mol Ther , vol.12 , pp. 644-651
    • Min, S.H.1    Molday, L.L.2    Seeliger, M.W.3
  • 149
    • 4344674756 scopus 로고    scopus 로고
    • RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of XLinked Retinoschisis
    • Zeng Y, Takada Y, Kjellstrom S, et al. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of XLinked Retinoschisis. Invest Ophthalmol Vis Sci 2004; 45: 3279-3285.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3279-3285
    • Zeng, Y.1    Takada, Y.2    Kjellstrom, S.3
  • 150
    • 67749111389 scopus 로고    scopus 로고
    • Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse
    • Park TK, Wu Z, Kjellstrom S, et al. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther 2009; 16: 916-926.
    • (2009) Gene Ther , vol.16 , pp. 916-926
    • Park, T.K.1    Wu, Z.2    Kjellstrom, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.