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Volumn 29, Issue 3, 2008, Pages 89-91

Successful RPE65 gene replacement and improved visual function in humans

Author keywords

Blindness; Gene therapy; LCA; RPE65

Indexed keywords

PREDNISONE;

EID: 51049087941     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802216480     Document Type: Review
Times cited : (17)

References (15)
  • 1
    • 3042651223 scopus 로고    scopus 로고
    • An overview of Leber congenital amaurosis: A model to understand human retinal development
    • Koenekoop, RK. An overview of Leber congenital amaurosis: A model to understand human retinal development. Surv Ophthalmol. 2004;49:379-398.
    • (2004) Surv Ophthalmol , vol.49 , pp. 379-398
    • Koenekoop, R.K.1
  • 3
    • 0035032662 scopus 로고    scopus 로고
    • Gene therapy restores vision in a canine model of childhood blindness
    • Acland GM, et al. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 2001;28:92-95.
    • (2001) Nat Genet , vol.28 , pp. 92-95
    • Acland, G.M.1
  • 4
    • 0346271740 scopus 로고    scopus 로고
    • Functional and structural evaluation after AAV.RPE65 gene transfer in the canine model of Leber's congenital amaurosis
    • Narfström K, Bragadóttir R, Redmond TM, Rakoczy PE, van Veen T, Bruun A. Functional and structural evaluation after AAV.RPE65 gene transfer in the canine model of Leber's congenital amaurosis. Adv Exp Med Biol. 2003;533:423-430.
    • (2003) Adv Exp Med Biol , vol.533 , pp. 423-430
    • Narfström, K.1    Bragadóttir, R.2    Redmond, T.M.3    Rakoczy, P.E.4    van Veen, T.5    Bruun, A.6
  • 5
    • 0027242119 scopus 로고
    • Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
    • Hamel CP, et al., Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J Biol Chem. 1993;268:15751-15757.
    • (1993) J Biol Chem , vol.268 , pp. 15751-15757
    • Hamel, C.P.1
  • 6
    • 0031252434 scopus 로고    scopus 로고
    • Mutations in RPE65 cause Leber's congenital amaurosis
    • Marlhens F, 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
  • 7
    • 24644507141 scopus 로고    scopus 로고
    • RPE65 is the isomerohydrolase in the retinoid visual cycle
    • Moiseyev G, et al. RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci USA. 2005;2:12413-12418.
    • (2005) Proc Natl Acad Sci USA , vol.2 , pp. 12413-12418
    • Moiseyev, G.1
  • 8
    • 26444596185 scopus 로고    scopus 로고
    • Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
    • Redmond TM, et al. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci USA. 2005;102:13658-13663.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 13658-13663
    • Redmond, T.M.1
  • 9
    • 23744447355 scopus 로고    scopus 로고
    • Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium
    • Jin M, et al., Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell. 2005;122:449-459.
    • (2005) Cell , vol.122 , pp. 449-459
    • Jin, M.1
  • 10
    • 33750855742 scopus 로고    scopus 로고
    • Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis
    • Bemelmans AP, et al. Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med. 2006;3:e347.
    • (2006) PLoS Med , vol.3
    • Bemelmans, A.P.1
  • 11
    • 20944447776 scopus 로고    scopus 로고
    • Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
    • Jacobson SG, et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci USA. 2005;102:6177-6182.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 6177-6182
    • Jacobson, S.G.1
  • 12
    • 34347248079 scopus 로고    scopus 로고
    • Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
    • Aguirre GK, et al. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation. PLoS Med. 2007;4:e230.
    • (2007) PLoS Med , vol.4
    • Aguirre, G.K.1
  • 13
    • 85119737389 scopus 로고    scopus 로고
    • Maguire AM, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358:2240-2248. Accessed 2008 Apr 27.
    • Maguire AM, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358:2240-2248. Accessed 2008 Apr 27.
  • 14
    • 85119748351 scopus 로고    scopus 로고
    • Bainbridge JW, et al. Effect of gene therapy on visual function in leber's congenital amaurosis. N Engl J Med. 2008;358:2231-2239. Accessed 2008 Apr 27.
    • Bainbridge JW, et al. Effect of gene therapy on visual function in leber's congenital amaurosis. N Engl J Med. 2008;358:2231-2239. Accessed 2008 Apr 27.
  • 15
    • 0348174870 scopus 로고    scopus 로고
    • In vivo gene therapy in young and adult RPE65 - dogs produces long-term visual improvement
    • Narfstrom K, et al. In vivo gene therapy in young and adult RPE65 - dogs produces long-term visual improvement. J Hered. 2003;94:31-37.
    • (2003) J Hered , vol.94 , pp. 31-37
    • Narfstrom, K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.