-
1
-
-
84873377444
-
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
-
doi: 10.1101/gr.144105.112
-
Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A. O., Al-Owain, M., et al. (2013). Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 23, 236-247. doi: 10.1101/gr.144105.112
-
(2013)
Genome Res.
, vol.23
, pp. 236-247
-
-
Abu-Safieh, L.1
Alrashed, M.2
Anazi, S.3
Alkuraya, H.4
Khan, A.O.5
Al-Owain, M.6
-
2
-
-
34249987381
-
Restoration of cone vision in a mouse model of achromatopsia
-
doi: 10.1038/nm1596
-
Alexander, J. J., Umino, Y., Everhart, D., Chang, B., Min, S. H., Li, Q., et al. (2007). Restoration of cone vision in a mouse model of achromatopsia. Nat. Med. 13, 685-687. doi: 10.1038/nm1596
-
(2007)
Nat. Med.
, vol.13
, pp. 685-687
-
-
Alexander, J.J.1
Umino, Y.2
Everhart, D.3
Chang, B.4
Min, S.H.5
Li, Q.6
-
3
-
-
34247843072
-
The function of guanylate cyclase 1 (GC1) and guanylate cyclase 2 (GC2) in rod and cone photoreceptors
-
doi: 10.1074/jbc.M610369200
-
Baehr, W., Karan, S., Maeda, T., Luo, D. G., Li, S., Bronson, J. D., et al. (2007). The function of guanylate cyclase 1 (GC1) and guanylate cyclase 2 (GC2) in rod and cone photoreceptors. J. Biol. Chem. 282, 8837-8847. doi: 10.1074/jbc.M610369200
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 8837-8847
-
-
Baehr, W.1
Karan, S.2
Maeda, T.3
Luo, D.G.4
Li, S.5
Bronson, J.D.6
-
4
-
-
0035182556
-
In vivo gene transfer to the mouse eye using an HIV-based lentiviral vector; efficient long-term transduction of corneal endothelium and retinal pigment epithelium
-
doi: 10.1038/sj.gt.3301574
-
Bainbridge, J. W., Stephens, C., Parsley, K., Demaison, C., Halfyard, A., Thrasher, A. J., et al. (2001). In vivo gene transfer to the mouse eye using an HIV-based lentiviral vector; efficient long-term transduction of corneal endothelium and retinal pigment epithelium. Gene Ther. 8, 1665-1668. doi: 10.1038/sj.gt.3301574
-
(2001)
Gene Ther.
, vol.8
, pp. 1665-1668
-
-
Bainbridge, J.W.1
Stephens, C.2
Parsley, K.3
Demaison, C.4
Halfyard, A.5
Thrasher, A.J.6
-
5
-
-
84857129967
-
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
-
doi: 10.1073/pnas.1118847109
-
Beltran, W. A., Cideciyan, A. V., Lewin, A. S., Iwabe, S., Khanna, H., Sumaroka, A., et al. (2012). Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc. Natl. Acad. Sci. U.S.A. 109, 2132-2137. doi: 10.1073/pnas.1118847109
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 2132-2137
-
-
Beltran, W.A.1
Cideciyan, A.V.2
Lewin, A.S.3
Iwabe, S.4
Khanna, H.5
Sumaroka, A.6
-
6
-
-
84873829632
-
The human rhodopsin kinase promoter in an AAV5 vector confers rod-and cone-specific expression in the primate retina
-
doi: 10.1089/hum.2012.125
-
Boye, S. E., Alexander, J. J., Boye, S. L., Witherspoon, C. D., Sandefer, K. J., Conlon, T. J., et al. (2012). The human rhodopsin kinase promoter in an AAV5 vector confers rod-and cone-specific expression in the primate retina. Hum. Gene Ther. 23, 1101-1115. doi: 10.1089/hum.2012.125
-
(2012)
Hum. Gene Ther.
, vol.23
, pp. 1101-1115
-
-
Boye, S.E.1
Alexander, J.J.2
Boye, S.L.3
Witherspoon, C.D.4
Sandefer, K.J.5
Conlon, T.J.6
-
7
-
-
77956208538
-
Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse
-
doi: 10.1371/journal.pone.0011306
-
Boye, S. E., Boye, S. L., Pang, J., Ryals, R., Everhart, D., Umino, Y., et al. (2010). Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse. PLoS ONE 5:e11306. doi: 10.1371/journal.pone.0011306
-
(2010)
PLoS ONE
, vol.5
-
-
Boye, S.E.1
Boye, S.L.2
Pang, J.3
Ryals, R.4
Everhart, D.5
Umino, Y.6
-
8
-
-
80155125829
-
Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse
-
doi: 10.1167/iovs.11-7867
-
Boye, S. L., Conlon, T., Erger, K., Ryals, R., Neeley, A., Cossette, T., et al. (2011). Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. Invest. Ophthalmol. Vis. Sci. 52, 7098-7108. doi: 10.1167/iovs.11-7867
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 7098-7108
-
-
Boye, S.L.1
Conlon, T.2
Erger, K.3
Ryals, R.4
Neeley, A.5
Cossette, T.6
-
9
-
-
84874339776
-
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis
-
doi: 10.1089/hum.2012.193
-
Boye, S. L., Peshenko, I. V., Huang, W. C., Min, S. H., McDoom, I., Kay, C. N., et al. (2013). AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. Hum. Gene Ther. 24, 189-202. doi: 10.1089/hum.2012.193
-
(2013)
Hum. Gene Ther.
, vol.24
, pp. 189-202
-
-
Boye, S.L.1
Peshenko, I.V.2
Huang, W.C.3
Min, S.H.4
McDoom, I.5
Kay, C.N.6
-
10
-
-
0019075153
-
An autosomal recessive blind mutant in the chicken
-
doi: 10.3382/ps.0592179
-
Cheng, K. M., Shoffner, R. N., Gelatt, K. N., Gum, G. G., Otis, J. S., and Bitgood, J. J. (1980). An autosomal recessive blind mutant in the chicken. Poult. Sci. 59, 2179-2181. doi: 10.3382/ps.0592179
-
(1980)
Poult. Sci.
, vol.59
, pp. 2179-2181
-
-
Cheng, K.M.1
Shoffner, R.N.2
Gelatt, K.N.3
Gum, G.G.4
Otis, J.S.5
Bitgood, J.J.6
-
11
-
-
71649113982
-
Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions
-
doi: 10.1016/j.jaapos.2009.10.004
-
Chung, D. C., and Traboulsi, E. I. (2009). Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. J. AAPOS 13, 587-592. doi: 10.1016/j.jaapos.2009.10.004
-
(2009)
J. AAPOS
, vol.13
, pp. 587-592
-
-
Chung, D.C.1
Traboulsi, E.I.2
-
12
-
-
54449085219
-
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
-
doi: 10.1073/pnas.0807027105
-
Cideciyan, A. V., Aleman, T. S., Boye, S. L., Schwartz, S. B., Kaushal, S., Roman, A. J., et al. (2008). 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. 105, 15112-15117. doi: 10.1073/pnas.0807027105
-
(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
Schwartz, S.B.4
Kaushal, S.5
Roman, A.J.6
-
13
-
-
35648970061
-
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis
-
doi: 10.1002/humu.20565
-
Cideciyan, A. V., Aleman, T. S., Jacobson, S. G., Khanna, H., Sumaroka, A., Aguirre, G. K., et al. (2007). Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum. Mutat. 28, 1074-1083. doi: 10.1002/humu.20565
-
(2007)
Hum. Mutat.
, vol.28
, pp. 1074-1083
-
-
Cideciyan, A.V.1
Aleman, T.S.2
Jacobson, S.G.3
Khanna, H.4
Sumaroka, A.5
Aguirre, G.K.6
-
14
-
-
70349105559
-
Human RPE65 gene therapy for Leber congenital amaurosis: Persistence of early visual improvements and safety at 1 year
-
doi: 10.1089/hum.2009.086
-
Cideciyan, A. V., Hauswirth, W. W., Aleman, T. S., Kaushal, S., Schwartz, S. B., Boye, S. L., et al. (2009). Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum. Gene Ther. 20, 999-1004. doi: 10.1089/hum.2009.086
-
(2009)
Hum. Gene Ther.
, vol.20
, pp. 999-1004
-
-
Cideciyan, A.V.1
Hauswirth, W.W.2
Aleman, T.S.3
Kaushal, S.4
Schwartz, S.B.5
Boye, S.L.6
-
15
-
-
84859948845
-
Macular function in macular degenerations: Repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials
-
doi: 10.1167/iovs.11-8415
-
Cideciyan, A. V., Swider, M., Aleman, T. S., Feuer, W. J., Schwartz, S. B., Russell, R. C., et al. (2012). Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Invest. Ophthalmol. Vis. Sci. 53, 841-852. doi: 10.1167/iovs.11-8415
-
(2012)
Invest. Ophthalmol. Vis. Sci.
, vol.53
, pp. 841-852
-
-
Cideciyan, A.V.1
Swider, M.2
Aleman, T.S.3
Feuer, W.J.4
Schwartz, S.B.5
Russell, R.C.6
-
16
-
-
11144287167
-
GC1 deletion prevents light-dependent arrestin translocation in mouse cone photoreceptor cells
-
doi: 10.1167/iovs.04-0691
-
Coleman, J. E., and Semple-Rowland, S. L. (2005). GC1 deletion prevents light-dependent arrestin translocation in mouse cone photoreceptor cells. Invest. Ophthalmol. Vis. Sci. 46, 12-16. doi: 10.1167/iovs.04-0691
-
(2005)
Invest. Ophthalmol. Vis. Sci.
, vol.46
, pp. 12-16
-
-
Coleman, J.E.1
Semple-Rowland, S.L.2
-
17
-
-
4644310251
-
Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice
-
doi: 10.1167/iovs.04-0392
-
Coleman, J. E., Zhang, Y., Brown, G. A., and Semple-Rowland, S. L. (2004). Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice. Invest. Ophthalmol. Vis. Sci. 45, 3397-3403. doi: 10.1167/iovs.04-0392
-
(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
-
18
-
-
48449085738
-
Leber congenital amaurosis: Genes, proteins and disease mechanisms
-
doi: 10.1016/j.preteyeres.2008.05.003
-
den Hollander, A. I., Roepman, R., Koenekoop, R. K., and Cremers, F. P. (2008). Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog. Retin. Eye Res. 27, 391-419. doi: 10.1016/j.preteyeres.2008.05.003
-
(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
-
19
-
-
0028360657
-
The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator
-
doi: 10.1016/0896-6273(94)90449-9
-
Dizhoor, A. M., Lowe, D. G., Olshevskaya, E. V., Laura, R. P., and Hurley, J. B. (1994). The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator. Neuron 12, 1345-1352. doi: 10.1016/0896-6273(94)90449-9
-
(1994)
Neuron
, vol.12
, pp. 1345-1352
-
-
Dizhoor, A.M.1
Lowe, D.G.2
Olshevskaya, E.V.3
Laura, R.P.4
Hurley, J.B.5
-
20
-
-
32544436444
-
Independent visual threshold measurements in the two eyes of freely moving rats and mice using a virtual-reality optokinetic system
-
doi: 10.1017/S0952523805225166
-
Douglas, R. M., Alam, N. M., Silver, B. D., McGill, T. J., Tschetter, W. W., and Prusky, G. T. (2005). Independent visual threshold measurements in the two eyes of freely moving rats and mice using a virtual-reality optokinetic system. Vis. Neurosci. 22, 677-684. doi: 10.1017/S0952523805225166
-
(2005)
Vis. Neurosci.
, vol.22
, pp. 677-684
-
-
Douglas, R.M.1
Alam, N.M.2
Silver, B.D.3
McGill, T.J.4
Tschetter, W.W.5
Prusky, G.T.6
-
21
-
-
79953279282
-
IQCB1 mutations in patients with leber congenital amaurosis
-
doi: 10.1167/iovs.10-5221
-
Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W., et al. (2011). IQCB1 mutations in patients with leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 52, 834-839. doi: 10.1167/iovs.10-5221
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 834-839
-
-
Estrada-Cuzcano, A.1
Koenekoop, R.K.2
Coppieters, F.3
Kohl, S.4
Lopez, I.5
Collin, R.W.6
-
22
-
-
0031590010
-
Structural and functional characterization of a second subfamily member of the calcium-modulated bovine rod outer segment membrane guanylate cyclase, ROS-GC2
-
doi: 10.1006/bbrc.1997.6579
-
Goraczniak, R., Duda, T., and Sharma, R. K. (1997). Structural and functional characterization of a second subfamily member of the calcium-modulated bovine rod outer segment membrane guanylate cyclase, ROS-GC2. Biochem. Biophys. Res. Commun. 234, 666-670. doi: 10.1006/bbrc.1997.6579
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.234
, pp. 666-670
-
-
Goraczniak, R.1
Duda, T.2
Sharma, R.K.3
-
23
-
-
0028067675
-
Structural and functional characterization of the rod outer segment membrane guanylate cyclase
-
Goraczniak, R. M., Duda, T., Sitaramayya, A., and Sharma, R. K. (1994). Structural and functional characterization of the rod outer segment membrane guanylate cyclase. Biochem. J. 302(Pt 2), 455-461.
-
(1994)
Biochem. J.
, vol.302
, Issue.PART 2
, pp. 455-461
-
-
Goraczniak, R.M.1
Duda, T.2
Sitaramayya, A.3
Sharma, R.K.4
-
24
-
-
77950532428
-
Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78
-
doi: 10.1073/pnas.0911991107
-
Gorbatyuk, M. S., Knox, T., LaVail, M. M., Gorbatyuk, O. S., Noorwez, S. M., Hauswirth, W. W., et al. (2010). Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78. Proc. Natl. Acad. Sci. U.S.A. 107, 5961-5966. doi: 10.1073/pnas.0911991107
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 5961-5966
-
-
Gorbatyuk, M.S.1
Knox, T.2
LaVail, M.M.3
Gorbatyuk, O.S.4
Noorwez, S.M.5
Hauswirth, W.W.6
-
25
-
-
0033525862
-
Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily
-
doi: 10.1074/jbc.274.10.6526
-
Haeseleer, F., Sokal, I., Li, N., Pettenati, M., Rao, N., Bronson, D., et al. (1999). Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily. J. Biol. Chem. 274, 6526-6535. doi: 10.1074/jbc.274.10.6526
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 6526-6535
-
-
Haeseleer, F.1
Sokal, I.2
Li, N.3
Pettenati, M.4
Rao, N.5
Bronson, D.6
-
26
-
-
33749139130
-
Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1
-
doi: 10.1167/iovs.06-0086
-
Haire, S. E., Pang, J., Boye, S. L., Sokal, I., Craft, C. M., Palczewski, K., et al. (2006). Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1. Invest. Ophthalmol. Vis. Sci. 47, 3745-3753. doi: 10.1167/iovs.06-0086
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 3745-3753
-
-
Haire, S.E.1
Pang, J.2
Boye, S.L.3
Sokal, I.4
Craft, C.M.5
Palczewski, K.6
-
27
-
-
11144356431
-
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
-
doi: 10.1002/humu.20010
-
Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., et al. (2004). Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat. 23, 306-317. doi: 10.1002/humu.20010
-
(2004)
Hum. Mutat.
, vol.23
, pp. 306-317
-
-
Hanein, S.1
Perrault, I.2
Gerber, S.3
Tanguy, G.4
Barbet, F.5
Ducroq, D.6
-
28
-
-
0141782228
-
Regulatory modes of rod outer segment membrane guanylate cyclase differ in catalytic efficiency and Ca(2+)-sensitivity
-
doi: 10.1046/j.1432-1033.2003.03770.x
-
Hwang, J. Y., Lange, C., Helten, A., Hoppner-Heitmann, D., Duda, T., Sharma, R. K., et al. (2003). Regulatory modes of rod outer segment membrane guanylate cyclase differ in catalytic efficiency and Ca(2+)-sensitivity. Eur. J. Biochem. 270, 3814-3821. doi: 10.1046/j.1432-1033.2003.03770.x
-
(2003)
Eur. J. Biochem.
, vol.270
, pp. 3814-3821
-
-
Hwang, J.Y.1
Lange, C.2
Helten, A.3
Hoppner-Heitmann, D.4
Duda, T.5
Sharma, R.K.6
-
29
-
-
4344679413
-
Diversity of guanylate cyclase-activating proteins (GCAPs) in teleost fish: Characterization of three novel GCAPs (GCAP4, GCAP5, GCAP7) from zebrafish (Danio rerio) and prediction of eight GCAPs (GCAP1-8) in pufferfish (Fugu rubripes)
-
doi: 10.1007/s00239-004-2614-y
-
Imanishi, Y., Yang, L., Sokal, I., Filipek, S., Palczewski, K., and Baehr, W. (2004). Diversity of guanylate cyclase-activating proteins (GCAPs) in teleost fish: characterization of three novel GCAPs (GCAP4, GCAP5, GCAP7) from zebrafish (Danio rerio) and prediction of eight GCAPs (GCAP1-8) in pufferfish (Fugu rubripes). J. Mol. Evol. 59, 204-217. doi: 10.1007/s00239-004-2614-y
-
(2004)
J. Mol. Evol.
, vol.59
, pp. 204-217
-
-
Imanishi, Y.1
Yang, L.2
Sokal, I.3
Filipek, S.4
Palczewski, K.5
Baehr, W.6
-
30
-
-
65549112569
-
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations
-
doi: 10.1167/iovs.08-2696
-
Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Roman, A. J., Sumaroka, A., Windsor, E. A., et al. (2009a). Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest. Ophthalmol. Vis. Sci. 50, 2368-2375. doi: 10.1167/iovs.08-2696
-
(2009)
Invest. Ophthalmol. Vis. Sci.
, vol.50
, pp. 2368-2375
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
Roman, A.J.4
Sumaroka, A.5
Windsor, E.A.6
-
31
-
-
66849099626
-
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
-
Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S. B., Windsor, E. A., et al. (2009b). Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. Mol. Vis. 15, 1098-1106.
-
(2009)
Mol. Vis.
, vol.15
, pp. 1098-1106
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
Sumaroka, A.4
Schwartz, S.B.5
Windsor, E.A.6
-
32
-
-
20944447776
-
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
-
doi: 10.1073/pnas.0500646102
-
Jacobson, S. G., Aleman, T. S., Cideciyan, A. V., Sumaroka, A., Schwartz, S. B., Windsor, E. A., et al. (2005). Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc. Natl. Acad. Sci. U.S.A. 102, 6177-6182. doi: 10.1073/pnas.0500646102
-
(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
Sumaroka, A.4
Schwartz, S.B.5
Windsor, E.A.6
-
33
-
-
0038364012
-
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
-
doi: 10.1093/hmg/ddg117
-
Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Pianta, M. J., Sumaroka, A., Schwartz, S. B., et al. (2003). Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 12, 1073-1078. doi: 10.1093/hmg/ddg117
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1073-1078
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Pianta, M.J.4
Sumaroka, A.5
Schwartz, S.B.6
-
34
-
-
79952217011
-
Human retinal disease from AIPL1 gene mutations: Foveal cone loss with minimal macular photoreceptors and rod function remaining
-
doi: 10.1167/iovs.10-6127
-
Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Roman, A. J., Swider, M., et al. (2011). Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest. Ophthalmol. Vis. Sci. 52, 70-79. doi: 10.1167/iovs.10-6127
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 70-79
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Sumaroka, A.4
Roman, A.J.5
Swider, M.6
-
35
-
-
34247544372
-
Leber's congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential
-
doi: 10.1016/j.ophtha.2006.10.028
-
Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Schwartz, S. B., Roman, A. J., et al. (2007a). Leber's congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. Ophthalmology 114, 895-898. doi: 10.1016/j.ophtha.2006.10.028
-
(2007)
Ophthalmology
, vol.114
, pp. 895-898
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Sumaroka, A.4
Schwartz, S.B.5
Roman, A.J.6
-
36
-
-
33846923884
-
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression
-
doi: 10.1167/iovs.06-0599
-
Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Sumaroka, A., Schwartz, S. B., Windsor, E. A., et al. (2007b). RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Invest. Ophthalmol. Vis. Sci. 48, 332-338. doi: 10.1167/iovs.06-0599
-
(2007)
Invest. Ophthalmol. Vis. Sci.
, vol.48
, pp. 332-338
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
Sumaroka, A.4
Schwartz, S.B.5
Windsor, E.A.6
-
37
-
-
0031790083
-
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene
-
Jacobson, S. G., Cideciyan, A. V., Huang, Y., Hanna, D. B., Freund, C. L., Affatigato, L. M., et al. (1998). Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest. Ophthalmol. Vis. Sci. 39, 2417-2426.
-
(1998)
Invest. Ophthalmol. Vis. Sci.
, vol.39
, pp. 2417-2426
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Huang, Y.3
Hanna, D.B.4
Freund, C.L.5
Affatigato, L.M.6
-
38
-
-
84871214661
-
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: Residual cone-photoreceptor vision correlates with biochemical properties of the mutants
-
doi: 10.1093/hmg/dds421
-
Jacobson, S. G., Cideciyan, A. V., Peshenko, I. V., Sumaroka, A., Olshevskaya, E. V., Cao, L., et al. (2013). Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Hum. Mol. Genet. 22, 168-183. doi: 10.1093/hmg/dds421
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 168-183
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Peshenko, I.V.3
Sumaroka, A.4
Olshevskaya, E.V.5
Cao, L.6
-
39
-
-
84855611189
-
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: Safety and efficacy in 15 children and adults followed up to 3 years
-
doi: 10.1001/archophthalmol.2011.298
-
Jacobson, S. G., Cideciyan, A. V., Ratnakaram, R., Heon, E., Schwartz, S. B., Roman, A. J., et al. (2012). Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch. Ophthalmol. 130, 9-24. doi: 10.1001/archophthalmol.2011.298
-
(2012)
Arch. Ophthalmol.
, vol.130
, pp. 9-24
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Ratnakaram, R.3
Heon, E.4
Schwartz, S.B.5
Roman, A.J.6
-
40
-
-
75049084576
-
Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion
-
doi: 10.1007/s11010-009-0322-z
-
Karan, S., Frederick, J. M., and Baehr, W. (2010). Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion. Mol. Cell. Biochem. 334, 141-155. doi: 10.1007/s11010-009-0322-z
-
(2010)
Mol. Cell. Biochem.
, vol.334
, pp. 141-155
-
-
Karan, S.1
Frederick, J.M.2
Baehr, W.3
-
41
-
-
35148850085
-
AAV-mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter
-
doi: 10.1167/iovs.07-0257
-
Khani, S. C., Pawlyk, B. S., Bulgakov, O. V., Kasperek, E., Young, J. E., Adamian, M., et al. (2007). AAV-mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter. Invest. Ophthalmol. Vis. Sci. 48, 3954-3961. doi: 10.1167/iovs.07-0257
-
(2007)
Invest. Ophthalmol. Vis. Sci.
, vol.48
, pp. 3954-3961
-
-
Khani, S.C.1
Pawlyk, B.S.2
Bulgakov, O.V.3
Kasperek, E.4
Young, J.E.5
Adamian, M.6
-
42
-
-
0023891895
-
Highly cooperative feedback control of retinal rod guanylate cyclase by calcium ions
-
doi: 10.1038/334064a0
-
Koch, K. W., and Stryer, L. (1988). Highly cooperative feedback control of retinal rod guanylate cyclase by calcium ions. Nature 334, 64-66. doi: 10.1038/334064a0
-
(1988)
Nature
, vol.334
, pp. 64-66
-
-
Koch, K.W.1
Stryer, L.2
-
43
-
-
77954166401
-
Gene therapy rescues cone function in congenital achromatopsia
-
doi: 10.1093/hmg/ddq136
-
Komaromy, A. M., Alexander, J. J., Rowlan, J. S., Garcia, M. M., Chiodo, V. A., Kaya, A., et al. (2010). Gene therapy rescues cone function in congenital achromatopsia. Hum. Mol. Genet. 19, 2581-2593. doi: 10.1093/hmg/ddq136
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2581-2593
-
-
Komaromy, A.M.1
Alexander, J.J.2
Rowlan, J.S.3
Garcia, M.M.4
Chiodo, V.A.5
Kaya, A.6
-
44
-
-
84895905784
-
Successful gene therapy in the RPGRIP1-deficient dog: A large model of cone-rod dystrophy
-
doi: 10.1038/mt.2013.232
-
Lheriteau, E., Petit, L., Weber, M., Le Meur, G., Deschamps, J.-Y., Libeau, L., et al. (2014). Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy. Mol. Ther. 22, 265-277. doi: 10.1038/mt.2013.232
-
(2014)
Mol. Ther.
, vol.22
, pp. 265-277
-
-
Lheriteau, E.1
Petit, L.2
Weber, M.3
Le Meur, G.4
Deschamps, J.-Y.5
Libeau, L.6
-
45
-
-
84892868349
-
Vesicular stomatitis virus glycoprotein-and venezuelan equine encephalitis virus-derived glycoprotein-pseudotyped lentivirus vectors differentially transduce corneal endothelium, trabecular meshwork, and human photoreceptors
-
doi: 10.1089/hum.2013.009
-
Lipinski, D. M., Barnard, A. R., Charbel Issa, P., Singh, M. S., De Silva, S. R., Trabalza, A., et al. (2014). Vesicular stomatitis virus glycoprotein-and venezuelan equine encephalitis virus-derived glycoprotein-pseudotyped lentivirus vectors differentially transduce corneal endothelium, trabecular meshwork, and human photoreceptors. Hum. Gene Ther. 25, 50-62. doi: 10.1089/hum.2013.009
-
(2014)
Hum. Gene Ther.
, vol.25
, pp. 50-62
-
-
Lipinski, D.M.1
Barnard, A.R.2
Charbel Issa, P.3
Singh, M.S.4
De Silva, S.R.5
Trabalza, A.6
-
46
-
-
0029073141
-
Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2
-
doi: 10.1073/pnas.92.12.5535
-
Lowe, D. G., Dizhoor, A. M., Liu, K., Gu, Q., Spencer, M. R., Laura, L., et al. (1995). Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2. Proc. Natl. Acad. Sci. U.S.A. 92, 5535-5539. doi: 10.1073/pnas.92.12.5535
-
(1995)
Proc. Natl. Acad. Sci. U.S.A.
, vol.92
, pp. 5535-5539
-
-
Lowe, D.G.1
Dizhoor, A.M.2
Liu, K.3
Gu, Q.4
Spencer, M.R.5
Laura, L.6
-
47
-
-
79955372235
-
AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa
-
doi: 10.1089/hum.2010.140
-
Mao, H., James, T. Jr., Schwein, A., Shabashvili, A. E., Hauswirth, W. W., Gorbatyuk, M. S., et al. (2011). AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa. Hum. Gene Ther. 22, 567-575. doi: 10.1089/hum.2010.140
-
(2011)
Hum. Gene Ther.
, vol.22
, pp. 567-575
-
-
Mao, H.1
James Jr., T.2
Schwein, A.3
Shabashvili, A.E.4
Hauswirth, W.W.5
Gorbatyuk, M.S.6
-
48
-
-
0027248090
-
Structural and biochemical identity of retinal rod outer segment membrane guanylate cyclase
-
doi: 10.1006/bbrc.1993.1900
-
Margulis, A., Goraczniak, R. M., Duda, T., Sharma, R. K., and Sitaramayya, A. (1993). Structural and biochemical identity of retinal rod outer segment membrane guanylate cyclase. Biochem. Biophys. Res. Commun. 194, 855-861. doi: 10.1006/bbrc.1993.1900
-
(1993)
Biochem. Biophys. Res. Commun.
, vol.194
, pp. 855-861
-
-
Margulis, A.1
Goraczniak, R.M.2
Duda, T.3
Sharma, R.K.4
Sitaramayya, A.5
-
49
-
-
80155145239
-
Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency
-
doi: 10.1089/hum.2011.069
-
Mihelec, M., Pearson, R. A., Robbie, S. J., Buch, P. K., Azam, S. A., Bainbridge, J. W., et al. (2011). Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency. Hum. Gene Ther. 22, 1179-1190. doi: 10.1089/hum.2011.069
-
(2011)
Hum. Gene Ther.
, vol.22
, pp. 1179-1190
-
-
Mihelec, M.1
Pearson, R.A.2
Robbie, S.J.3
Buch, P.K.4
Azam, S.A.5
Bainbridge, J.W.6
-
50
-
-
0037370521
-
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
-
doi: 10.1016/S0161-6420(02)01757-8
-
Milam, A. H., Barakat, M. R., Gupta, N., Rose, L., Aleman, T. S., Pianta, M. J., et al. (2003). Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology 110, 549-558. doi: 10.1016/S0161-6420(02)01757-8
-
(2003)
Ophthalmology
, vol.110
, pp. 549-558
-
-
Milam, A.H.1
Barakat, M.R.2
Gupta, N.3
Rose, L.4
Aleman, T.S.5
Pianta, M.J.6
-
51
-
-
25144501446
-
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis
-
doi: 10.1016/j.ymthe.2005.06.002
-
Min, S. H., Molday, L. L., Seeliger, M. W., Dinculescu, A., Timmers, A. M., Janssen, A., et al. (2005). Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol. Ther. 12, 644-651. doi: 10.1016/j.ymthe.2005.06.002
-
(2005)
Mol. Ther.
, vol.12
, pp. 644-651
-
-
Min, S.H.1
Molday, L.L.2
Seeliger, M.W.3
Dinculescu, A.4
Timmers, A.M.5
Janssen, A.6
-
52
-
-
0030931963
-
Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector
-
doi: 10.1073/pnas.94.19.10319
-
Miyoshi, H., Takahashi, M., Gage, F. H., and Verma, I. M. (1997). Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector. Proc. Natl. Acad. Sci. U.S.A. 94, 10319-10323. doi: 10.1073/pnas.94.19.10319
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 10319-10323
-
-
Miyoshi, H.1
Takahashi, M.2
Gage, F.H.3
Verma, I.M.4
-
53
-
-
3042789501
-
The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice
-
doi: 10.1523/JNEUROSCI.0963-04.2004
-
Olshevskaya, E. V., Calvert, P. D., Woodruff, M. L., Peshenko, I. V., Savchenko, A. B., Makino, C. L., et al. (2004). The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice. J. Neurosci. 24, 6078-6085. doi: 10.1523/JNEUROSCI.0963-04.2004
-
(2004)
J. Neurosci.
, vol.24
, pp. 6078-6085
-
-
Olshevskaya, E.V.1
Calvert, P.D.2
Woodruff, M.L.3
Peshenko, I.V.4
Savchenko, A.B.5
Makino, C.L.6
-
54
-
-
84861323765
-
Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors
-
doi: 10.1523/JNEUROSCI.0976-12.2012
-
Olshevskaya, E. V., Peshenko, I. V., Savchenko, A. B., and Dizhoor, A. M. (2012). Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors. J. Neurosci. 32, 7208-7217. doi: 10.1523/JNEUROSCI.0976-12.2012
-
(2012)
J. Neurosci.
, vol.32
, pp. 7208-7217
-
-
Olshevskaya, E.V.1
Peshenko, I.V.2
Savchenko, A.B.3
Dizhoor, A.M.4
-
55
-
-
0027980575
-
Molecular cloning and characterization of retinal photoreceptor guanylyl cyclase-activating protein
-
doi: 10.1016/0896-6273(94)90355-7
-
Palczewski, K., Subbaraya, I., Gorczyca, W. A., Helekar, B. S., Ruiz, C. C., Ohguro, H., et al. (1994). Molecular cloning and characterization of retinal photoreceptor guanylyl cyclase-activating protein. Neuron 13, 395-404. doi: 10.1016/0896-6273(94)90355-7
-
(1994)
Neuron
, vol.13
, pp. 395-404
-
-
Palczewski, K.1
Subbaraya, I.2
Gorczyca, W.A.3
Helekar, B.S.4
Ruiz, C.C.5
Ohguro, H.6
-
56
-
-
33745905638
-
Efficiency of lentiviral transduction during development in normal and rd mice
-
Pang, J., Cheng, M., Haire, S. E., Barker, E., Planelles, V., and Blanks, J. C. (2006). Efficiency of lentiviral transduction during development in normal and rd mice. Mol. Vis. 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
-
57
-
-
79551620165
-
Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa
-
doi: 10.1038/mt.2010.273
-
Pang, J. J., Dai, X., Boye, S. E., Barone, I., Boye, S. L., Mao, S., et al. (2011). Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa. Mol. Ther. 19, 234-242. doi: 10.1038/mt.2010.273
-
(2011)
Mol. Ther.
, vol.19
, pp. 234-242
-
-
Pang, J.J.1
Dai, X.2
Boye, S.E.3
Barone, I.4
Boye, S.L.5
Mao, S.6
-
58
-
-
84859612115
-
AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
-
doi: 10.1371/journal.pone.0035250
-
Pang, J. J., Deng, W. T., Dai, X., Lei, B., Everhart, D., Umino, Y., et al. (2012). AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS ONE 7:e35250. doi: 10.1371/journal.pone.0035250
-
(2012)
PLoS ONE
, vol.7
-
-
Pang, J.J.1
Deng, W.T.2
Dai, X.3
Lei, B.4
Everhart, D.5
Umino, Y.6
-
59
-
-
77952495178
-
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis
-
doi: 10.1167/iovs.09-3734
-
Pasadhika, S., Fishman, G. A., Stone, E. M., Lindeman, M., Zelkha, R., Lopez, I., et al. (2010). Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 51, 2608-2614. doi: 10.1167/iovs.09-3734
-
(2010)
Invest. Ophthalmol. Vis. Sci.
, vol.51
, pp. 2608-2614
-
-
Pasadhika, S.1
Fishman, G.A.2
Stone, E.M.3
Lindeman, M.4
Zelkha, R.5
Lopez, I.6
-
60
-
-
77955332214
-
Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis
-
doi: 10.1089/hum.2009.218
-
Pawlyk, B. S., Bulgakov, O. V., Liu, X., Xu, X., Adamian, M., Sun, X., et al. (2010). Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Hum. Gene Ther. 21, 993-1004. doi: 10.1089/hum.2009.218
-
(2010)
Hum. Gene Ther.
, vol.21
, pp. 993-1004
-
-
Pawlyk, B.S.1
Bulgakov, O.V.2
Liu, X.3
Xu, X.4
Adamian, M.5
Sun, X.6
-
61
-
-
16144363583
-
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
-
doi: 10.1038/ng1296-461
-
Perrault, I., Rozet, J. M., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., et al. (1996). Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat. Genet. 14, 461-464. doi: 10.1038/ng1296-461
-
(1996)
Nat. Genet.
, vol.14
, pp. 461-464
-
-
Perrault, I.1
Rozet, J.M.2
Calvas, P.3
Gerber, S.4
Camuzat, A.5
Dollfus, H.6
-
62
-
-
0033870580
-
Spectrum of retGC1 mutations in Leber's congenital amaurosis
-
doi: 10.1038/sj.ejhg.5200503
-
Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, D., Souied, E., et al. (2000). Spectrum of retGC1 mutations in Leber's congenital amaurosis. Eur. J. Hum. Genet. 8, 578-582. doi: 10.1038/sj.ejhg.5200503
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 578-582
-
-
Perrault, I.1
Rozet, J.M.2
Gerber, S.3
Ghazi, I.4
Ducroq, D.5
Souied, E.6
-
63
-
-
0032758681
-
Leber congenital amaurosis
-
doi: 10.1006/mgme.1999.2906
-
Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Leowski, C., Ducroq, D., et al. (1999a). Leber congenital amaurosis. Mol. Genet. Metab. 68, 200-208. doi: 10.1006/mgme.1999.2906
-
(1999)
Mol. Genet. Metab.
, vol.68
, pp. 200-208
-
-
Perrault, I.1
Rozet, J.M.2
Gerber, S.3
Ghazi, I.4
Leowski, C.5
Ducroq, D.6
-
64
-
-
0033362015
-
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
-
doi: 10.1086/302335
-
Perrault, I., Rozet, J. M., Ghazi, I., Leowski, C., Bonnemaison, M., Gerber, S., et al. (1999b). Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. Am. J. Hum. Genet. 64, 1225-1228. doi: 10.1086/302335
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1225-1228
-
-
Perrault, I.1
Rozet, J.M.2
Ghazi, I.3
Leowski, C.4
Bonnemaison, M.5
Gerber, S.6
-
65
-
-
2342420353
-
Guanylyl cyclase-activating proteins (GCAPs) are Ca2+/Mg2+ sensors: Implications for photoreceptor guanylyl cyclase (RetGC) regulation in mammalian photoreceptors
-
doi: 10.1074/jbc.C400065200
-
Peshenko, I. V., and Dizhoor, A. M. (2004). Guanylyl cyclase-activating proteins (GCAPs) are Ca2+/Mg2+ sensors: implications for photoreceptor guanylyl cyclase (RetGC) regulation in mammalian photoreceptors. J. Biol. Chem. 279, 16903-16906. doi: 10.1074/jbc.C400065200
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 16903-16906
-
-
Peshenko, I.V.1
Dizhoor, A.M.2
-
66
-
-
33747709435
-
Ca2+ and Mg2+ binding properties of GCAP-1. Evidence that Mg2+-bound form is the physiological activator of photoreceptor guanylyl cyclase
-
doi: 10.1074/jbc.M600257200
-
Peshenko, I. V., and Dizhoor, A. M. (2006). Ca2+ and Mg2+ binding properties of GCAP-1. Evidence that Mg2+-bound form is the physiological activator of photoreceptor guanylyl cyclase. J. Biol. Chem. 281, 23830-23841. doi: 10.1074/jbc.M600257200
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 23830-23841
-
-
Peshenko, I.V.1
Dizhoor, A.M.2
-
67
-
-
79959428038
-
Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors
-
doi: 10.1021/bi200491b
-
Peshenko, I. V., Olshevskaya, E. V., Savchenko, A. B., Karan, S., Palczewski, K., Baehr, W., et al. (2011). Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors. Biochemistry 50, 5590-5600. doi: 10.1021/bi200491b
-
(2011)
Biochemistry
, vol.50
, pp. 5590-5600
-
-
Peshenko, I.V.1
Olshevskaya, E.V.2
Savchenko, A.B.3
Karan, S.4
Palczewski, K.5
Baehr, W.6
-
68
-
-
84869089744
-
Restoration of vision in the pde6beta-deficient dog, a large animal model of rod-cone dystrophy
-
doi: 10.1038/mt.2012.134
-
Petit, L., Lhériteau, E., Weber, M., Le Meur, G., Deschamps, J.-Y., Provost, N., et al. (2012). Restoration of vision in the pde6beta-deficient dog, a large animal model of rod-cone dystrophy. Mol. Ther. 20, 2019-2030. doi: 10.1038/mt.2012.134
-
(2012)
Mol. Ther.
, vol.20
, pp. 2019-2030
-
-
Petit, L.1
Lhériteau, E.2
Weber, M.3
Le Meur, G.4
Deschamps, J.-Y.5
Provost, N.6
-
69
-
-
0030299881
-
Turned on by Ca2+! The physiology and pathology of Ca(2+)-binding proteins in the retina
-
doi: 10.1016/S0166-2236(96)10059-X
-
Polans, A., Baehr, W., and Palczewski, K. (1996). Turned on by Ca2+! The physiology and pathology of Ca(2+)-binding proteins in the retina. Trends Neurosci. 19, 547-554. doi: 10.1016/S0166-2236(96)10059-X
-
(1996)
Trends Neurosci.
, vol.19
, pp. 547-554
-
-
Polans, A.1
Baehr, W.2
Palczewski, K.3
-
70
-
-
0348162576
-
Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2)
-
doi: 10.1007/978-1-4615-0067-4_8
-
Porto, F. B., Perrault, I., Hicks, D., Rozet, J. M., Hanoteau, N., Hanein, S., et al. (2003). Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2). Adv. Exp. Med. Biol. 533, 59-68. doi: 10.1007/978-1-4615-0067-4_8
-
(2003)
Adv. Exp. Med. Biol.
, vol.533
, pp. 59-68
-
-
Porto, F.B.1
Perrault, I.2
Hicks, D.3
Rozet, J.M.4
Hanoteau, N.5
Hanein, S.6
-
71
-
-
12944291433
-
Photoreceptor guanylate cyclases: A review
-
doi: 10.1023/A:1027365520442
-
Pugh, E. N. Jr., Duda, T., Sitaramayya, A., and Sharma, R. K. (1997). Photoreceptor guanylate cyclases: a review. Biosci. Rep. 17, 429-473. doi: 10.1023/A:1027365520442
-
(1997)
Biosci. Rep.
, vol.17
, pp. 429-473
-
-
Pugh Jr., E.N.1
Duda, T.2
Sitaramayya, A.3
Sharma, R.K.4
-
72
-
-
34548804452
-
Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
-
doi: 10.1088/0967-3334/28/8/N02
-
Roman, A. J., Cideciyan, A. V., Aleman, T. S., and Jacobson, S. G. (2007). Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiol. Meas. 28, N51-N56. doi: 10.1088/0967-3334/28/8/N02
-
(2007)
Physiol. Meas.
, vol.28
-
-
Roman, A.J.1
Cideciyan, A.V.2
Aleman, T.S.3
Jacobson, S.G.4
-
73
-
-
19944430129
-
Quantifying rod photoreceptor-mediated vision in retinal degenerations: Dark-adapted thresholds as outcome measures
-
doi: 10.1016/j.exer.2004.09.008
-
Roman, A. J., Schwartz, S. B., Aleman, T. S., Cideciyan, A. V., Chico, J. D., Windsor, E. A., et al. (2005). Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp. Eye Res. 80, 259-272. doi: 10.1016/j.exer.2004.09.008
-
(2005)
Exp. Eye Res.
, vol.80
, pp. 259-272
-
-
Roman, A.J.1
Schwartz, S.B.2
Aleman, T.S.3
Cideciyan, A.V.4
Chico, J.D.5
Windsor, E.A.6
-
74
-
-
0032477872
-
A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
-
doi: 10.1073/pnas.95.3.1271
-
Semple-Rowland, S. L., Lee, N. R., Van Hooser, J. P., Palczewski, K., and Baehr, W. (1998). A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc. Natl. Acad. Sci. U.S.A. 95, 1271-1276. doi: 10.1073/pnas.95.3.1271
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, pp. 1271-1276
-
-
Semple-Rowland, S.L.1
Lee, N.R.2
Van Hooser, J.P.3
Palczewski, K.4
Baehr, W.5
-
75
-
-
80051501594
-
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis
-
doi: 10.1016/j.ajhg.2011.06.002
-
Sergouniotis, P. I., Davidson, A. E., Mackay, D. S., Li, Z., Yang, X., Plagnol, V., et al. (2011). Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am. J. Hum. Genet. 89, 183-190. doi: 10.1016/j.ajhg.2011.06.002
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 183-190
-
-
Sergouniotis, P.I.1
Davidson, A.E.2
McKay, D.S.3
Li, Z.4
Yang, X.5
Plagnol, V.6
-
76
-
-
0026661979
-
Molecular cloning of a retina-specific membrane guanylyl cyclase
-
doi: 10.1016/0896-6273(92)90035-C
-
Shyjan, A. W., de Sauvage, F. J., Gillett, N. A., Goeddel, D. V., and Lowe, D. G. (1992). Molecular cloning of a retina-specific membrane guanylyl cyclase. Neuron 9, 727-737. doi: 10.1016/0896-6273(92)90035-C
-
(1992)
Neuron
, vol.9
, pp. 727-737
-
-
Shyjan, A.W.1
de Sauvage, F.J.2
Gillett, N.A.3
Goeddel, D.V.4
Lowe, D.G.5
-
77
-
-
35148888558
-
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
-
doi: 10.1167/iovs.07-0068
-
Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, E., Bianchi, P. E., et al. (2007). Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest. Ophthalmol. Vis. Sci. 48, 4284-4290. doi: 10.1167/iovs.07-0068
-
(2007)
Invest. Ophthalmol. Vis. Sci.
, vol.48
, pp. 4284-4290
-
-
Simonelli, F.1
Ziviello, C.2
Testa, F.3
Rossi, S.4
Fazzi, E.5
Bianchi, P.E.6
-
78
-
-
74349104948
-
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations
-
doi: 10.1038/gt.2009.104
-
Sun, X., Pawlyk, B., Xu, X., Liu, X., Bulgakov, O. V., Adamian, M., et al. (2010). Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. Gene Ther. 17, 117-131. doi: 10.1038/gt.2009.104
-
(2010)
Gene Ther.
, vol.17
, pp. 117-131
-
-
Sun, X.1
Pawlyk, B.2
Xu, X.3
Liu, X.4
Bulgakov, O.V.5
Adamian, M.6
-
79
-
-
66149101630
-
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
-
doi: 10.1093/hmg/ddp133
-
Tan, M. H., Smith, A. J., Pawlyk, B., Xu, X., Liu, X., Bainbridge, J. B., et al. (2009). 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. 18, 2099-2114. doi: 10.1093/hmg/ddp133
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2099-2114
-
-
Tan, M.H.1
Smith, A.J.2
Pawlyk, B.3
Xu, X.4
Liu, X.5
Bainbridge, J.B.6
-
80
-
-
0035789070
-
Subretinal injections in rodent eyes: Effects on electrophysiology and histology of rat retina
-
Timmers, A. M., Zhang, H., Squitieri, A., and Gonzalez-Pola, C. (2001). Subretinal injections in rodent eyes: effects on electrophysiology and histology of rat retina. Mol. Vis. 7, 131-137.
-
(2001)
Mol. Vis.
, vol.7
, pp. 131-137
-
-
Timmers, A.M.1
Zhang, H.2
Squitieri, A.3
Gonzalez-Pola, C.4
-
81
-
-
0022313270
-
Hereditary retinal degeneration in the Rhode Island Red chicken: Ultrastructural analysis
-
doi: 10.1016/0014-4835(85)90131-9
-
Ulshafer, R. J., and Allen, C. B. (1985a). Hereditary retinal degeneration in the Rhode Island Red chicken: ultrastructural analysis. Exp. Eye Res. 40, 865-877. doi: 10.1016/0014-4835(85)90131-9
-
(1985)
Exp. Eye Res.
, vol.40
, pp. 865-877
-
-
Ulshafer, R.J.1
Allen, C.B.2
-
82
-
-
0022374532
-
Ultrastructural changes in the retinal pigment epithelium of congenitally blind chickens
-
doi: 10.3109/02713688509003346
-
Ulshafer, R. J., and Allen, C. B. (1985b). Ultrastructural changes in the retinal pigment epithelium of congenitally blind chickens. Curr. Eye Res. 4, 1009-1021. doi: 10.3109/02713688509003346
-
(1985)
Curr. Eye Res.
, vol.4
, pp. 1009-1021
-
-
Ulshafer, R.J.1
Allen, C.B.2
-
83
-
-
0021128921
-
Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG
-
doi: 10.1016/0014-4835(84)90003-4
-
Ulshafer, R. J., Allen, C., Dawson, W. W., and Wolf, E. D. (1984). Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG. Exp. Eye Res. 39, 125-135. doi: 10.1016/0014-4835(84)90003-4
-
(1984)
Exp. Eye Res.
, vol.39
, pp. 125-135
-
-
Ulshafer, R.J.1
Allen, C.2
Dawson, W.W.3
Wolf, E.D.4
-
84
-
-
83155177072
-
Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey
-
doi: 10.1126/scitranslmed.3002103
-
Vandenberghe, L. H., Bell, P., Maguire, A. M., Cearley, C. N., Xiao, R., Calcedo, R., et al. (2011). Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey. Sci. Transl. Med. 3:88ra54. doi: 10.1126/scitranslmed.3002103
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Vandenberghe, L.H.1
Bell, P.2
Maguire, A.M.3
Cearley, C.N.4
Xiao, R.5
Calcedo, R.6
-
85
-
-
84873830812
-
AAV9 targets cone photoreceptors in the nonhuman primate retina
-
doi: 10.1371/journal.pone.0053463
-
Vandenberghe, L. H., Bell, P., Maguire, A. M., Xiao, R., Hopkins, T. B., Grant, R., et al. (2013). AAV9 targets cone photoreceptors in the nonhuman primate retina. PLoS ONE 8:e53463. doi: 10.1371/journal.pone.0053463
-
(2013)
PLoS ONE
, vol.8
-
-
Vandenberghe, L.H.1
Bell, P.2
Maguire, A.M.3
Xiao, R.4
Hopkins, T.B.5
Grant, R.6
-
86
-
-
79957627793
-
Bicistronic lentiviruses containing a viral 2A cleavage sequence reliably co-express two proteins and restore vision to an animal model of LCA1
-
doi: 10.1371/journal.pone.0020553
-
Verrier, J. D., Madorsky, I., Coggin, W. E., Geesey, M., Hochman, M., Walling, E., et al. (2011). Bicistronic lentiviruses containing a viral 2A cleavage sequence reliably co-express two proteins and restore vision to an animal model of LCA1. PLoS ONE 6:e20553. doi: 10.1371/journal.pone.0020553
-
(2011)
PLoS ONE
, vol.6
-
-
Verrier, J.D.1
Madorsky, I.2
Coggin, W.E.3
Geesey, M.4
Hochman, M.5
Walling, E.6
-
87
-
-
0021915775
-
Directional asymmetries of optokinetic nystagmus: Developmental changes and relation to the accessory optic system and to the vestibular system
-
Wallman, J., and Velez, J. (1985). Directional asymmetries of optokinetic nystagmus: developmental changes and relation to the accessory optic system and to the vestibular system. J. Neurosci. 5, 317-329.
-
(1985)
J. Neurosci.
, vol.5
, pp. 317-329
-
-
Wallman, J.1
Velez, J.2
-
88
-
-
61549143392
-
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa
-
doi: 10.1016/j.ajhg.2009.02.005
-
Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W., et al. (2009). Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am. J. Hum. Genet. 84, 380-387. doi: 10.1016/j.ajhg.2009.02.005
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 380-387
-
-
Wang, H.1
den Hollander, A.I.2
Moayedi, Y.3
Abulimiti, A.4
Li, Y.5
Collin, R.W.6
-
89
-
-
34250170130
-
Cone-based vision in the aging mouse
-
doi: 10.1016/j.visres.2007.03.023
-
Williams, G. A., and Jacobs, G. H. (2007). Cone-based vision in the aging mouse. Vision Res. 47, 2037-2046. doi: 10.1016/j.visres.2007.03.023
-
(2007)
Vision Res.
, vol.47
, pp. 2037-2046
-
-
Williams, G.A.1
Jacobs, G.H.2
-
90
-
-
33745608443
-
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness
-
doi: 10.1371/journal.pmed.0030201
-
Williams, M. L., Coleman, J. E., Haire, S. E., Aleman, T. S., Cideciyan, A. V., Sokal, I., et al. (2006). Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. PLoS Med. 3:e30201. doi: 10.1371/journal.pmed.0030201
-
(2006)
PLoS Med.
, vol.3
-
-
Williams, M.L.1
Coleman, J.E.2
Haire, S.E.3
Aleman, T.S.4
Cideciyan, A.V.5
Sokal, I.6
-
91
-
-
77949773491
-
Photoreceptor degeneration: Genetic and mechanistic dissection of a complex trait
-
doi: 10.1038/nrg2717
-
Wright, A. F., Chakarova, C. F., Abd El-Aziz, M. M., and Bhattacharya, S. S. (2010). Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat. Rev. Genet. 11, 273-284. doi: 10.1038/nrg2717
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 273-284
-
-
Wright, A.F.1
Chakarova, C.F.2
Abd El-Aziz, M.M.3
Bhattacharya, S.S.4
-
92
-
-
0036310297
-
Virus-mediated transduction of murine retina with adeno-associated virus: Effects of viral capsid and genome size
-
doi: 10.1128/JVI.76.15.7651-7660.2002
-
Yang, G. S., Schmidt, M., Yan, Z., Lindbloom, J. D., Harding, T. C., Donahue, B. A., et al. (2002). Virus-mediated transduction of murine retina with adeno-associated virus: effects of viral capsid and genome size. J. Virol. 76, 7651-7660. doi: 10.1128/JVI.76.15.7651-7660.2002
-
(2002)
J. Virol.
, vol.76
, pp. 7651-7660
-
-
Yang, G.S.1
Schmidt, M.2
Yan, Z.3
Lindbloom, J.D.4
Harding, T.C.5
Donahue, B.A.6
-
93
-
-
0028873143
-
Two membrane forms of guanylyl cyclase found in the eye
-
doi: 10.1073/pnas.92.2.602
-
Yang, R. B., Foster, D. C., Garbers, D. L., and Fulle, H. J. (1995). Two membrane forms of guanylyl cyclase found in the eye. Proc. Natl. Acad. Sci. U.S.A. 92, 602-606. doi: 10.1073/pnas.92.2.602
-
(1995)
Proc. Natl. Acad. Sci. U.S.A.
, vol.92
, pp. 602-606
-
-
Yang, R.B.1
Foster, D.C.2
Garbers, D.L.3
Fulle, H.J.4
-
94
-
-
0033565767
-
Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior
-
Yang, R. B., Robinson, S. W., Xiong, W. H., Yau, K. W., Birch, D. G., and Garbers, D. L. (1999). Disruption of a retinal guanylyl cyclase gene leads to cone-specific dystrophy and paradoxical rod behavior. J. Neurosci. 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
-
95
-
-
79955939595
-
XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina
-
doi: 10.1167/iovs.10-5998
-
Yao, J., Feathers, K. L., Khanna, H., Thompson, D., Tsilfidis, C., Hauswirth, W. W., et al. (2011). XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina. Invest. Ophthalmol. Vis. Sci. 52, 1567-1572. doi: 10.1167/iovs.10-5998
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 1567-1572
-
-
Yao, J.1
Feathers, K.L.2
Khanna, H.3
Thompson, D.4
Tsilfidis, C.5
Hauswirth, W.W.6
-
96
-
-
33645405363
-
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
-
doi: 10.1167/iovs.05-0848
-
Yzer, S., Leroy, B. P., De Baere, E., de Ravel, T. J., Zonneveld, M. N., Voesenek, K., et al. (2006). Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 47, 1167-1176. doi: 10.1167/iovs.05-0848
-
(2006)
Invest. Ophthalmol. Vis. Sci.
, vol.47
, pp. 1167-1176
-
-
Yzer, S.1
Leroy, B.P.2
De Baere, E.3
de Ravel, T.J.4
Zonneveld, M.N.5
Voesenek, K.6
|