-
1
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27:391-419.
-
(2008)
Prog Retin Eye Res
, vol.27
, pp. 391-419
-
-
den Hollander, A.I.1
Roepman, R.2
Koenekoop, R.K.3
Cremers, F.P.4
-
2
-
-
0031255068
-
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
-
Gu SM, Thompson DA, Srikumari CR, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-197.
-
(1997)
Nat Genet
, vol.17
, pp. 194-197
-
-
Gu, S.M.1
Thompson, D.A.2
Srikumari, C.R.3
-
3
-
-
23744447355
-
Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium
-
Jin M, Li S, Moghrabi WN, Sun H, Travis GH. 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
Li, S.2
Moghrabi, W.N.3
Sun, H.4
Travis, G.H.5
-
4
-
-
24644507141
-
RPE65 is the isomerohydrolase in the retinoid visual cycle
-
Moiseyev G, Chen Y, Takahashi Y, Wu BX, Ma JX. RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci U S A. 2005;102:12413-12418.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 12413-12418
-
-
Moiseyev, G.1
Chen, Y.2
Takahashi, Y.3
Wu, B.X.4
Ma, J.X.5
-
5
-
-
0033960296
-
Biochemistry of visual pigment regeneration: The Friedenwald lecture
-
Saari JC. Biochemistry of visual pigment regeneration: the Friedenwald lecture. Invest Ophthalmol Vis Sci. 2000;41:337-348.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 337-348
-
-
Saari, J.C.1
-
6
-
-
0032582425
-
Congenital stationary night blindness in the dog: Common mutation in the RPE65 gene indicates founder effect
-
Aguirre GD, Baldwin V, Pearce-Kelling S, Narfstrom K, Ray K, Acland GM. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis. 1998;4:23.
-
(1998)
Mol Vis
, vol.4
, pp. 23
-
-
Aguirre, G.D.1
Baldwin, V.2
Pearce-Kelling, S.3
Narfstrom, K.4
Ray, K.5
Acland, G.M.6
-
7
-
-
0033118884
-
Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65
-
Veske A, Nilsson SE, Narfstrom K, Gal A. Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics. 1999;57:57-61.
-
(1999)
Genomics
, vol.57
, pp. 57-61
-
-
Veske, A.1
Nilsson, S.E.2
Narfstrom, K.3
Gal, A.4
-
8
-
-
20844450821
-
Retinal degeneration 12 (rd12): A new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA)
-
Pang JJ, 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.J.1
Chang, B.2
Hawes, N.L.3
-
9
-
-
17344366357
-
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
-
10
-
-
0034682551
-
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
-
Van Hooser JP, Aleman TS, He YG, et al. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness. Proc Natl Acad Sci U S A. 2000;97:8623-8628.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 8623-8628
-
-
van Hooser, J.P.1
Aleman, T.S.2
He, Y.G.3
-
11
-
-
28444442243
-
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
-
Acland GM, Aguirre GD, Bennett J, et al. 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.
-
(2005)
Mol Ther
, vol.12
, pp. 1072-1082
-
-
Acland, G.M.1
Aguirre, G.D.2
Bennett, J.3
-
13
-
-
77954620055
-
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(5):398-427.
-
(2010)
Prog Retin Eye Res
, vol.29
, Issue.5
, pp. 398-427
-
-
Cideciyan, A.V.1
-
14
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland GM, Aguirre GD, Ray J, 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
Aguirre, G.D.2
Ray, J.3
-
15
-
-
34347248079
-
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
-
Aguirre GK, Komaromy AM, Cideciyan AV, 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
Komaromy, A.M.2
Cideciyan, A.V.3
-
16
-
-
33750591238
-
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis
-
Jacobson SG, Boye SL, Aleman TS, et al. Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. Hum Gene Ther. 2006;17: 845-858.
-
(2006)
Hum Gene Ther
, vol.17
, pp. 845-858
-
-
Jacobson, S.G.1
Boye, S.L.2
Aleman, T.S.3
-
17
-
-
33744495152
-
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection
-
Jacobson SG, Acland GM, Aguirre GD, et al. Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection. Mol Ther. 2006;13:1074-1084.
-
(2006)
Mol Ther
, vol.13
, pp. 1074-1084
-
-
Jacobson, S.G.1
Acland, G.M.2
Aguirre, G.D.3
-
18
-
-
20944447776
-
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
-
Jacobson SG, Aleman TS, Cideciyan AV, et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc Natl Acad Sci U S A. 2005;102: 6177-6182.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 6177-6182
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
-
19
-
-
44249120315
-
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
-
20
-
-
54949104686
-
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
-
21
-
-
44249085878
-
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
-
22
-
-
54449085219
-
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 U S A. 2008;105: 15112-15117.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 15112-15117
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Boye, S.L.3
-
23
-
-
70349105559
-
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
-
24
-
-
68849088569
-
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
-
25
-
-
70350620424
-
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: A phase 1 dose-escalation trial
-
Maguire AM, High KA, Auricchio A, et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009;374:1597-1605.
-
(2009)
Lancet
, vol.374
, pp. 1597-1605
-
-
Maguire, A.M.1
High, K.A.2
Auricchio, A.3
-
26
-
-
0027102087
-
Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness
-
Wrigstad A, Nilsson SE, Narfstrom K. Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res. 1992;55:805-818.
-
(1992)
Exp Eye Res
, vol.55
, pp. 805-818
-
-
Wrigstad, A.1
Nilsson, S.E.2
Narfstrom, K.3
-
27
-
-
0028075957
-
Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy: A morphological study
-
Wrigstad A, Narfstrom K, Nilsson SE. Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy: a morphological study. Doc Ophthalmol. 1994;87:337-354.
-
(1994)
Doc Ophthalmol
, vol.87
, pp. 337-354
-
-
Wrigstad, A.1
Narfstrom, K.2
Nilsson, S.E.3
-
28
-
-
33748515548
-
Mutants and man: Searching for unique phenotypes and genes in the dog model of inherited retinal degeneration
-
Ostrander EA, Giger U, and Lindblad-Toh K, eds., Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press
-
Aguirre GD, Acland GM. Models, Mutants and man: searching for unique phenotypes and genes in the dog model of inherited retinal degeneration. In: Ostrander EA, Giger U, and Lindblad-Toh K, eds. The Dog and Its Genome. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press: 2006:291-325.
-
(2006)
The Dog and Its Genome
, pp. 291-325
-
-
Aguirre, G.D.1
Models Acland, G.M.2
-
29
-
-
32944473999
-
Gene therapy restores visiondependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
-
Pang JJ, Chang B, Kumar A, et al. Gene therapy restores visiondependent 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.J.1
Chang, B.2
Kumar, A.3
-
30
-
-
33750431877
-
Application of a new subretinal injection device in the dog
-
Komaromy AM, Varner SE, de Juan E, Acland GM, Aguirre GD. Application of a new subretinal injection device in the dog. Cell Transplant. 2006;15:511-519.
-
(2006)
Cell Transplant
, vol.15
, pp. 511-519
-
-
Komaromy, A.M.1
Varner, S.E.2
de Juan, E.3
Acland, G.M.4
Aguirre, G.D.5
-
32
-
-
0036236801
-
Identification of the RPE65 protein in mammalian cone photoreceptors. Invest Ophthalmol
-
Znoiko SL, Crouch RK, Moiseyev G, Ma JX. Identification of the RPE65 protein in mammalian cone photoreceptors. Invest Ophthalmol Vis Sci. 2002;43:1604-1609.
-
(2002)
Vis Sci
, vol.43
, pp. 1604-1609
-
-
Znoiko, S.L.1
Crouch, R.K.2
Moiseyev, G.3
Ma, J.X.4
-
33
-
-
0029125152
-
Rod photoreceptor neurite sprouting in retinitis pigmentosa
-
Li ZY, Kljavin IJ, Milam AH. Rod photoreceptor neurite sprouting in retinitis pigmentosa. J Neurosci. 1995;15:5429-5438.
-
(1995)
J Neurosci
, vol.15
, pp. 5429-5438
-
-
Li, Z.Y.1
Kljavin, I.J.2
Milam, A.H.3
-
34
-
-
0031980355
-
Rhodopsin transgenic pigs as a model for human retinitis pigmentosa
-
Li ZY, Wong F, Chang JH, et al. Rhodopsin transgenic pigs as a model for human retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1998;39:808-819.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 808-819
-
-
Li, Z.Y.1
Wong, F.2
Chang, J.H.3
-
35
-
-
0033006858
-
An immunohistochemical study of an autosomal dominant feline rod/ cone dysplasia (Rdy cats)
-
Chong NH, Alexander RA, Barnett KC, Bird AC, Luthert PJ. An immunohistochemical study of an autosomal dominant feline rod/ cone dysplasia (Rdy cats). Exp Eye Res. 1999;68:51-57.
-
(1999)
Exp Eye Res
, vol.68
, pp. 51-57
-
-
Chong, N.H.1
Alexander, R.A.2
Barnett, K.C.3
Bird, A.C.4
Luthert, P.J.5
-
36
-
-
33645985195
-
A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa
-
Beltran WA, Hammond P, Acland GM, Aguirre GD. A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006;47:1669-1681.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 1669-1681
-
-
Beltran, W.A.1
Hammond, P.2
Acland, G.M.3
Aguirre, G.D.4
-
37
-
-
49249095350
-
Functional and structural modifications during retinal degeneration in the rd10 mouse
-
Barhoum R, Martinez-Navarrete G, Corrochano S, et al. Functional and structural modifications during retinal degeneration in the rd10 mouse. Neuroscience. 2008;155:698-713.
-
(2008)
Neuroscience
, vol.155
, pp. 698-713
-
-
Barhoum, R.1
Martinez-Navarrete, G.2
Corrochano, S.3
-
38
-
-
43049176723
-
Trafficking of membrane-associated proteins to cone photoreceptor outer segments requires the chromophore 11-cis-retinal
-
Zhang H, Fan J, Li S, et al. Trafficking of membrane-associated proteins to cone photoreceptor outer segments requires the chromophore 11-cis-retinal. J Neurosci. 2008;28:4008-4014.
-
(2008)
J Neurosci
, vol.28
, pp. 4008-4014
-
-
Zhang, H.1
Fan, J.2
Li, S.3
-
39
-
-
25844524933
-
Early changes in synaptic connectivity following progressive photoreceptor degeneration in RCS rats
-
Cuenca N, Pinilla I, Sauve Y, Lund R. Early changes in synaptic connectivity following progressive photoreceptor degeneration in RCS rats. Eur J Neurosci. 2005;22:1057-1072.
-
(2005)
Eur J Neurosci
, vol.22
, pp. 1057-1072
-
-
Cuenca, N.1
Pinilla, I.2
Sauve, Y.3
Lund, R.4
-
40
-
-
0031941610
-
Neurite outgrowth from bipolar and horizontal cells after experimental retinal detachment
-
Lewis GP, Linberg KA, Fisher SK. Neurite outgrowth from bipolar and horizontal cells after experimental retinal detachment. Invest Ophthalmol Vis Sci. 1998;39:424-434.
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 424-434
-
-
Lewis, G.P.1
Linberg, K.A.2
Fisher, S.K.3
-
41
-
-
0025716236
-
Demonstration of cell types among cone bipolar neurons of cat retina
-
Cohen E, Sterling P. Demonstration of cell types among cone bipolar neurons of cat retina. Philos Trans R Soc Lond B Biol Sci. 1990;330:305-321.
-
(1990)
Philos Trans R Soc Lond B Biol Sci
, vol.330
, pp. 305-321
-
-
Cohen, E.1
Sterling, P.2
-
42
-
-
0038249109
-
Determinants of the exclusion zone in dopaminergic amacrine cell mosaics
-
Raven MA, Eglen SJ, Ohab JJ, Reese BE. Determinants of the exclusion zone in dopaminergic amacrine cell mosaics. J Comp Neurol. 2003;461:123-136.
-
(2003)
J Comp Neurol
, vol.461
, pp. 123-136
-
-
Raven, M.A.1
Eglen, S.J.2
Ohab, J.J.3
Reese, B.E.4
-
43
-
-
0020589485
-
Neuronal subpopulations in cat retina which accumulate the GABA agonist, (3H)muscimol: A combined Golgi and autoradiographic study
-
Pourcho RG, Goebel DJ. Neuronal subpopulations in cat retina which accumulate the GABA agonist, (3H)muscimol: a combined Golgi and autoradiographic study. J Comp Neurol. 1983; 219:25-35.
-
(1983)
J Comp Neurol
, vol.219
, pp. 25-35
-
-
Pourcho, R.G.1
Goebel, D.J.2
-
44
-
-
5044222028
-
Parallel processing in the mammalian retina
-
Wassle H. Parallel processing in the mammalian retina. Nat Rev Neurosci. 2004;5:747-757.
-
(2004)
Nat Rev Neurosci
, vol.5
, pp. 747-757
-
-
Wassle, H.1
-
45
-
-
0036153262
-
Rat retinal ganglion cells co-express brain derived neurotrophic factor (BDNF) and its receptor TrkB
-
Vecino E, Garcia-Grespo D, Garcia M, Martinez-Millan L, Sharma SC, Carrascal E. Rat retinal ganglion cells co-express brain derived neurotrophic factor (BDNF) and its receptor TrkB. Vision Res. 2002;42:151-157.
-
(2002)
Vision Res
, vol.42
, pp. 151-157
-
-
Vecino, E.1
Garcia-Grespo, D.2
Garcia, M.3
Martinez-Millan, L.4
Sharma, S.C.5
Carrascal, E.6
-
46
-
-
0028142138
-
Rapid changes in the expression of glial cell proteins caused by experimental retinal detachment
-
Lewis GP, Guerin CJ, Anderson DH, Matsumoto B, Fisher SK. Rapid changes in the expression of glial cell proteins caused by experimental retinal detachment. Am J Ophthalmol. 1994;118:368-376.
-
(1994)
Am J Ophthalmol
, vol.118
, pp. 368-376
-
-
Lewis, G.P.1
Guerin, C.J.2
Anderson, D.H.3
Matsumoto, B.4
Fisher, S.K.5
|