-
1
-
-
3042651223
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
-
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
-
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
|