메뉴 건너뛰기




Volumn 5, Issue 1, 2015, Pages

Leber congenital amaurosis caused by mutations in GUCY2D

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE 1; GUANYLATE CYCLASE 2; UNCLASSIFIED DRUG; CELL SURFACE RECEPTOR;

EID: 84941078284     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a017350     Document Type: Article
Times cited : (21)

References (83)
  • 2
    • 84855854548 scopus 로고    scopus 로고
    • Photoreceptor signaling: Supporting vision across a wide range of light intensities
    • Arshavsky VY, Burns ME. 2012. Photoreceptor signaling: Supporting vision across a wide range of light intensities. J Biol Chem 287: 1620-1626.
    • (2012) J Biol Chem , vol.287 , pp. 1620-1626
    • Arshavsky, V.Y.1    Burns, M.E.2
  • 4
    • 0035182556 scopus 로고    scopus 로고
    • 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
    • Bainbridge JW, Stephens C, Parsley K, Demaison C, Halfyard A, Thrasher AJ, Ali RR. 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.
    • (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    Ali, R.R.7
  • 10
    • 27644548928 scopus 로고    scopus 로고
    • Beyond counting photons: Trials and trends in vertebrate visual transduction
    • Burns ME, Arshavsky VY. 2005. Beyond counting photons: Trials and trends in vertebrate visual transduction. Neuron 48: 387-401.
    • (2005) Neuron , vol.48 , pp. 387-401
    • Burns, M.E.1    Arshavsky, V.Y.2
  • 11
    • 71649113982 scopus 로고    scopus 로고
    • Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions
    • Chung DC, Traboulsi EI. 2009. Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS 13: 587-592.
    • (2009) J AAPOS , vol.13 , pp. 587-592
    • Chung, D.C.1    Traboulsi, E.I.2
  • 13
    • 35648970061 scopus 로고    scopus 로고
    • Centrosomal-ciliary gene CEP290/ NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: Implications for therapy of Leber congenital amaurosis
    • Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, 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.
    • (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    Schwartz, S.B.7    Windsor, E.A.8    He, S.9    Chang, B.10
  • 17
    • 11144287167 scopus 로고    scopus 로고
    • GC1 deletion prevents light-dependent arrestin translocation in mouse cone photoreceptor cells
    • Coleman JE, Semple-Rowland SL. 2005. GC1 deletion prevents light-dependent arrestin translocation in mouse cone photoreceptor cells. Invest Ophthalmol Vis Sci 46: 12-16.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 12-16
    • Coleman, J.E.1    Semple-Rowland, S.L.2
  • 18
    • 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. 2004. Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice. Invest Ophthalmol Vis Sci 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
  • 21
    • 0028360657 scopus 로고
    • The human photoreceptor membrane guanylyl cyclase, RetGC, is present in outer segments and is regulated by calcium and a soluble activator
    • Dizhoor AM, Lowe DG, Olshevskaya EV, Laura RP, Hurley JB. 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.
    • (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
  • 27
    • 0141782228 scopus 로고    scopus 로고
    • Regulatory modes of rod outer segment membrane guanylate cyclase differ in catalytic efficiency and Ca2þ-sensitivity
    • Hwang JY, Lange C, Helten A, Hoppner-Heitmann D, Duda T, Sharma RK, Koch KW. 2003. Regulatory modes of rod outer segment membrane guanylate cyclase differ in catalytic efficiency and Ca2þ-sensitivity. Eur J Biochem 270: 3814-3821.
    • (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    Koch, K.W.7
  • 37
    • 84871214661 scopus 로고    scopus 로고
    • 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
    • Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, 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.
    • (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    Schwartz, S.B.7    Roman, A.J.8    Olivares, M.B.9    Sadigh, S.10
  • 41
    • 0029073141 scopus 로고
    • Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2
    • Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB. 1995. Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2. Proc Natl Acad Sci 92: 5535-5539.
    • (1995) Proc Natl Acad Sci , vol.92 , pp. 5535-5539
    • Lowe, D.G.1    Dizhoor, A.M.2    Liu, K.3    Gu, Q.4    Spencer, M.5    Laura, R.6    Lu, L.7    Hurley, J.B.8
  • 42
    • 79955372235 scopus 로고    scopus 로고
    • AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa
    • Mao H, James T Jr, Schwein A, Shabashvili AE, Hauswirth WW, Gorbatyuk MS, Lewin AS. 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.
    • (2011) Hum Gene Ther , vol.22 , pp. 567-575
    • Mao, H.1    James, T.2    Schwein, A.3    Shabashvili, A.E.4    Hauswirth, W.W.5    Gorbatyuk, M.S.6    Lewin, A.S.7
  • 43
    • 80155145239 scopus 로고    scopus 로고
    • 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
    • Mihelec M, Pearson RA, Robbie SJ, Buch PK, Azam SA, Bainbridge JW, Ali RR. 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.
    • (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    Ali, R.R.7
  • 46
    • 0030931963 scopus 로고    scopus 로고
    • Stable and efficient gene transfer into the retina using an HIV- based lentiviral vector
    • Miyoshi H, Takahashi M, Gage RH, Verma IM. 1997. Stable and efficient gene transfer into the retina using an HIV- based lentiviral vector. Proc Natl Acad Sci 94: 10319-10323.
    • (1997) Proc Natl Acad Sci , vol.94 , pp. 10319-10323
    • Miyoshi, H.1    Takahashi, M.2    Gage, R.H.3    Verma, I.M.4
  • 47
    • 84861323765 scopus 로고    scopus 로고
    • Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors
    • Olshevskaya EV, Peshenko IV, Savchenko AB, Dizhoor AM. 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.
    • (2012) J Neurosci , vol.32 , pp. 7208-7217
    • Olshevskaya, E.V.1    Peshenko, I.V.2    Savchenko, A.B.3    Dizhoor, A.M.4
  • 48
    • 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. 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
  • 49
    • 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 JJ, Dai X, Boye SE, Barone I, Boye SL, Mao S, Everhart D, Dinculescu A, Liu L, Umino Y, 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.
    • (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    Everhart, D.7    Dinculescu, A.8    Liu, L.9    Umino, Y.10
  • 52
    • 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, Xu X, Adamian M, Sun X, Khani SC, Berson EL, Sandberg MA, Li T. 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.
    • (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    Khani, S.C.7    Berson, E.L.8    Sandberg, M.A.9    Li, T.10
  • 56
    • 2342420353 scopus 로고    scopus 로고
    • Guanylyl cyclase-activating proteins (GCAPs) are Ca2þ/Mg2þ sensors: Implications for photoreceptor guanylyl cyclase (RetGC) regulation in mammalian photoreceptors
    • Peshenko IV, Dizhoor AM. 2004. Guanylyl cyclase-activating proteins (GCAPs) are Ca2þ/Mg2þ sensors: Implications for photoreceptor guanylyl cyclase (RetGC) regulation in mammalian photoreceptors. J Biol Chem 279: 16903-16906.
    • (2004) J Biol Chem , vol.279 , pp. 16903-16906
    • Peshenko, I.V.1    Dizhoor, A.M.2
  • 57
    • 79959428038 scopus 로고    scopus 로고
    • Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors
    • Peshenko IV, Olshevskaya EV, Savchenko AB, Karan S, Palczewski K, Baehr W, Dizhoor AM. 2011. Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors. Biochemistry 50: 5590-5600.
    • (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    Dizhoor, A.M.7
  • 59
    • 0030299881 scopus 로고    scopus 로고
    • Turned on by Ca2þ! The physiology and pathology of Ca2þ-binding proteins in the retina
    • Polans A, Baehr W, Palczewski K. 1996. Turned on by Ca2þ! The physiology and pathology of Ca2þ-binding proteins in the retina. Trends Neurosci 19: 547-554.
    • (1996) Trends Neurosci , vol.19 , pp. 547-554
    • Polans, A.1    Baehr, W.2    Palczewski, K.3
  • 61
    • 84897930791 scopus 로고    scopus 로고
    • Use of lentiviral vectors to deliver and express bicistronic transgenes in developing chicken embryos
    • Semple-Rowland SL, Berry J. 2013. Use of lentiviral vectors to deliver and express bicistronic transgenes in developing chicken embryos. Methods 66: 466-473.
    • (2013) Methods , vol.66 , pp. 466-473
    • Semple-Rowland, S.L.1    Berry, J.2
  • 62
    • 0032477872 scopus 로고    scopus 로고
    • A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
    • Semple-Rowland SL, Lee NR, Van Hooser JP, Palczewski K, Baehr W. 1998. A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci 95: 1271-1276.
    • (1998) Proc Natl Acad Sci , 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
  • 67
    • 38749087929 scopus 로고    scopus 로고
    • Versatility of AAV vectors for retinal gene transfer
    • Surace EM, Auricchio A. 2008. Versatility of AAV vectors for retinal gene transfer. Vision Res 48: 353-359.
    • (2008) Vision Res , vol.48 , pp. 353-359
    • Surace, E.M.1    Auricchio, A.2
  • 68
    • 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, Xu X, Liu X, Bainbridge JB, Basche M, McIntosh J, Tran HV, Nathwani A, 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.
    • (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    Basche, M.7    McIntosh, J.8    Tran, H.V.9    Nathwani, A.10
  • 69
    • 0035789070 scopus 로고    scopus 로고
    • Subretinal injections in rodent eyes: Effects on electrophysiology and histology of rat retina
    • Timmers AM, Zhang H, Squitieri A, 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
  • 70
    • 0022313270 scopus 로고
    • Hereditary retinal degeneration in the Rhode Island Red chicken: Ultrastructural analysis
    • Ulshafer RJ, Allen CB. 1985a. Hereditary retinal degeneration in the Rhode Island Red chicken: Ultrastructural analysis. Exp Eye Res 40: 865-877.
    • (1985) Exp Eye Res , vol.40 , pp. 865-877
    • Ulshafer, R.J.1    Allen, C.B.2
  • 71
    • 0022374532 scopus 로고
    • Ultrastructural changes in the retinal pigment epithelium of congenitally blind chickens
    • Ulshafer RJ, Allen CB. 1985b. Ultrastructural changes in the retinal pigment epithelium of congenitally blind chickens. Curr Eye Res 4: 1009-1021.
    • (1985) Curr Eye Res , vol.4 , pp. 1009-1021
    • Ulshafer, R.J.1    Allen, C.B.2
  • 72
    • 0021128921 scopus 로고
    • Hereditary retinal degeneration in the Rhode Island Red chicken: I. Histology and ERG
    • Ulshafer RJ, Allen C, Dawson WW, Wolf ED. 1984. Hereditary retinal degeneration in the Rhode Island Red chicken: I. Histology and ERG. Exp Eye Res 39: 125-135.
    • (1984) Exp Eye Res , vol.39 , pp. 125-135
    • Ulshafer, R.J.1    Allen, C.2    Dawson, W.W.3    Wolf, E.D.4
  • 73
    • 84856950131 scopus 로고    scopus 로고
    • Novel adeno-associated viral vectors for retinal gene therapy
    • Vandenberghe LH, Auricchio A. 2012. Novel adeno-associated viral vectors for retinal gene therapy. Gene Ther 19: 162-168.
    • (2012) Gene Ther , vol.19 , pp. 162-168
    • Vandenberghe, L.H.1    Auricchio, A.2
  • 77
    • 0021915775 scopus 로고
    • Directional asymmetries of optokinetic nystagmus: Developmental changes and relation to the accessory optic system and to the vestibular system
    • Wallman J, 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
  • 80
  • 81
    • 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. 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.