메뉴 건너뛰기




Volumn 6, Issue 3, 2011, Pages

Dominant cone-rod dystrophy: A mouse model generated by gene targeting of the GCAP1/Guca1a gene

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CONE OPSIN; CYCLIC GMP; GUANYLATE CYCLASE ACTIVATING PROTEIN 1; GUANYLATE CYCLASE ACTIVATOR; SCOTOPSIN; UNCLASSIFIED DRUG; GUCA1A PROTEIN, MOUSE; MUTANT PROTEIN;

EID: 79953134438     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0018089     Document Type: Article
Times cited : (19)

References (50)
  • 1
    • 0030027705 scopus 로고    scopus 로고
    • Clinical study of a large family with autosomal dominant progressive cone degeneration
    • Small KW, Gehrs K, (1996) Clinical study of a large family with autosomal dominant progressive cone degeneration. Am J Ophthalmol 121: 1-12.
    • (1996) Am J Ophthalmol , vol.121 , pp. 1-12
    • Small, K.W.1    Gehrs, K.2
  • 2
    • 33646092544 scopus 로고    scopus 로고
    • Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis
    • Michaelides M, Hardcastle AJ, Hunt DM, Moore AT, (2006) Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol 51: 232-258.
    • (2006) Surv Ophthalmol , vol.51 , pp. 232-258
    • Michaelides, M.1    Hardcastle, A.J.2    Hunt, D.M.3    Moore, A.T.4
  • 3
    • 0031974462 scopus 로고    scopus 로고
    • A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
    • Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, et al. (1998) A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 7: 273-277.
    • (1998) Hum Mol Genet , vol.7 , pp. 273-277
    • Payne, A.M.1    Downes, S.M.2    Bessant, D.A.3    Taylor, R.4    Holder, G.E.5
  • 4
    • 0031596118 scopus 로고    scopus 로고
    • The localization of guanylyl cyclase-activating proteins in the mammalian retina
    • Cuenca N, Lopez S, Howes K, Kolb H, (1998) The localization of guanylyl cyclase-activating proteins in the mammalian retina. Invest Ophthalmol Vis Sci 39: 1243-1250.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 1243-1250
    • Cuenca, N.1    Lopez, S.2    Howes, K.3    Kolb, H.4
  • 5
    • 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
  • 6
    • 0029102831 scopus 로고
    • Guanylyl cyclase activating protein. A calcium-sensitive regulator of phototransduction
    • Gorczyca WA, Polans AS, Surgucheva IG, Subbaraya I, Baehr W, et al. (1995) Guanylyl cyclase activating protein. A calcium-sensitive regulator of phototransduction. J Biol Chem 270: 22029-22036.
    • (1995) J Biol Chem , vol.270 , pp. 22029-22036
    • Gorczyca, W.A.1    Polans, A.S.2    Surgucheva, I.G.3    Subbaraya, I.4    Baehr, W.5
  • 7
    • 0023713029 scopus 로고
    • cGMP-dependent channel protein from photoreceptor membranes: single-channel activity of the purified and reconstituted protein
    • Hanke W, Cook NJ, Kaupp UB, (1988) cGMP-dependent channel protein from photoreceptor membranes: single-channel activity of the purified and reconstituted protein. Proc Natl Acad Sci U S A 85: 94-98.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 94-98
    • Hanke, W.1    Cook, N.J.2    Kaupp, U.B.3
  • 8
    • 0023132127 scopus 로고
    • Identification, purification, and functional reconstitution of the cyclic GMP-dependent channel from rod photoreceptors
    • Cook NJ, Hanke W, Kaupp UB, (1987) Identification, purification, and functional reconstitution of the cyclic GMP-dependent channel from rod photoreceptors. Proc Natl Acad Sci U S A 84: 585-589.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 585-589
    • Cook, N.J.1    Hanke, W.2    Kaupp, U.B.3
  • 9
    • 0032112324 scopus 로고    scopus 로고
    • GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy
    • Sokal I, Li N, Surgucheva I, Warren MJ, Payne AM, et al. (1998) GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol Cell 2: 129-133.
    • (1998) Mol Cell , vol.2 , pp. 129-133
    • Sokal, I.1    Li, N.2    Surgucheva, I.3    Warren, M.J.4    Payne, A.M.5
  • 10
    • 75049084862 scopus 로고    scopus 로고
    • Guanylate cyclases and associated activator proteins in retinal disease
    • Hunt DM, Buch P, Michaelides M, (2009) Guanylate cyclases and associated activator proteins in retinal disease. Mol Cell Biochem 334: 157-168.
    • (2009) Mol Cell Biochem , vol.334 , pp. 157-168
    • Hunt, D.M.1    Buch, P.2    Michaelides, M.3
  • 11
    • 67749108203 scopus 로고    scopus 로고
    • Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase
    • Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, et al. (2009) Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat 30: E782-96.
    • (2009) Hum Mutat , vol.30
    • Kitiratschky, V.B.1    Behnen, P.2    Kellner, U.3    Heckenlively, J.R.4    Zrenner, E.5
  • 12
    • 4444329802 scopus 로고    scopus 로고
    • A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration
    • Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, et al. (2004) A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci 45: 3863-3870.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3863-3870
    • Nishiguchi, K.M.1    Sokal, I.2    Yang, L.3    Roychowdhury, N.4    Palczewski, K.5
  • 13
    • 18244406564 scopus 로고    scopus 로고
    • A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)
    • Sokal I, Dupps WJ, Grassi MA, Brown J Jr, Affatigato LM, et al. (2005) A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Invest Ophthalmol Vis Sci 46: 1124-1132.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1124-1132
    • Sokal, I.1    Dupps, W.J.2    Grassi, M.A.3    Brown Jr., J.4    Affatigato, L.M.5
  • 14
    • 25444525756 scopus 로고    scopus 로고
    • Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)
    • Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, et al. (2004) Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis 11: 143-151.
    • (2004) Mol Vis , vol.11 , pp. 143-151
    • Jiang, L.1    Katz, B.J.2    Yang, Z.3    Zhao, Y.4    Faulkner, N.5
  • 15
    • 53049099571 scopus 로고    scopus 로고
    • A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy
    • Jiang L, Wheaton D, Bereta G, Zhang K, Palczewski K, et al. (2008) A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy. Vision Res 48: 2425-2432.
    • (2008) Vision Res , vol.48 , pp. 2425-2432
    • Jiang, L.1    Wheaton, D.2    Bereta, G.3    Zhang, K.4    Palczewski, K.5
  • 16
    • 23044475688 scopus 로고    scopus 로고
    • Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy
    • Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, et al. (2005) Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology 112: 1442-1447.
    • (2005) Ophthalmology , vol.112 , pp. 1442-1447
    • Michaelides, M.1    Wilkie, S.E.2    Jenkins, S.3    Holder, G.E.4    Hunt, D.M.5
  • 17
    • 0035859947 scopus 로고    scopus 로고
    • Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors
    • Mendez A, Burns ME, Sokal I, Dizhoor AM, Baehr W, et al. (2001) Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors. Proc Natl Acad Sci U S A 98: 9948-9953.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 9948-9953
    • Mendez, A.1    Burns, M.E.2    Sokal, I.3    Dizhoor, A.M.4    Baehr, W.5
  • 18
    • 3042789501 scopus 로고    scopus 로고
    • The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice
    • Olshevskaya EV, Calvert PD, Woodruff ML, Peshenko IV, Savchenko AB, 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.
    • (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
  • 20
    • 37849031514 scopus 로고    scopus 로고
    • R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal
    • Samardzija M, von Lintig J, Tanimoto N, Oberhauser V, Thiersch M, et al. (2008) R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Hum Mol Genet 17: 281-292.
    • (2008) Hum Mol Genet , vol.17 , pp. 281-292
    • Samardzija, M.1    von Lintig, J.2    Tanimoto, N.3    Oberhauser, V.4    Thiersch, M.5
  • 21
    • 33846420195 scopus 로고    scopus 로고
    • A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1
    • van de Pavert SA, Meuleman J, Malysheva A, Aartsen WM, Versteeg I, et al. (2007) A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. J Neurosci 27: 564-573.
    • (2007) J Neurosci , vol.27 , pp. 564-573
    • van de Pavert, S.A.1    Meuleman, J.2    Malysheva, A.3    Aartsen, W.M.4    Versteeg, I.5
  • 22
    • 0034888202 scopus 로고    scopus 로고
    • Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy
    • Wilkie SE, Li Y, Deery EC, Newbold RJ, Garibaldi D, et al. (2001) Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet 69: 471-480.
    • (2001) Am J Hum Genet , vol.69 , pp. 471-480
    • Wilkie, S.E.1    Li, Y.2    Deery, E.C.3    Newbold, R.J.4    Garibaldi, D.5
  • 23
    • 0030096561 scopus 로고    scopus 로고
    • Recovery kinetics of human rod phototransduction inferred from the two-branched alpha-wave saturation function
    • Pepperberg DR, Birch DG, Hofmann KP, Hood DC, (1996) Recovery kinetics of human rod phototransduction inferred from the two-branched alpha-wave saturation function. J Opt Soc Am A Opt Image Sci Vis 13: 586-600.
    • (1996) J Opt Soc Am A Opt Image Sci Vis , vol.13 , pp. 586-600
    • Pepperberg, D.R.1    Birch, D.G.2    Hofmann, K.P.3    Hood, D.C.4
  • 24
    • 0030868289 scopus 로고    scopus 로고
    • Photoresponses of human rods in vivo derived from paired-flash electroretinograms
    • Pepperberg DR, Birch DG, Hood DC, (1997) Photoresponses of human rods in vivo derived from paired-flash electroretinograms. Vis Neurosci 14: 73-82.
    • (1997) Vis Neurosci , vol.14 , pp. 73-82
    • Pepperberg, D.R.1    Birch, D.G.2    Hood, D.C.3
  • 25
    • 0034055927 scopus 로고    scopus 로고
    • Electroretinographic determination of human rod flash response in vivo
    • Pepperberg DR, Birch DG, Hood DC, (2000) Electroretinographic determination of human rod flash response in vivo. Methods Enzymol 316: 202-223.
    • (2000) Methods Enzymol , vol.316 , pp. 202-223
    • Pepperberg, D.R.1    Birch, D.G.2    Hood, D.C.3
  • 26
    • 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, et al. (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
  • 27
    • 0034653521 scopus 로고    scopus 로고
    • Mice lacking G-protein receptor kinase 1 have profoundly slowed recovery of cone-driven retinal responses
    • Lyubarsky AL, Chen C, Simon MI, Pugh EN Jr, (2000) Mice lacking G-protein receptor kinase 1 have profoundly slowed recovery of cone-driven retinal responses. J Neurosci 20: 2209-2217.
    • (2000) J Neurosci , vol.20 , pp. 2209-2217
    • Lyubarsky, A.L.1    Chen, C.2    Simon, M.I.3    Pugh Jr., E.N.4
  • 28
    • 0030050756 scopus 로고    scopus 로고
    • Recovery phase of the murine rod photoresponse reconstructed from electroretinographic recordings
    • Lyubarsky AL, Pugh EN Jr, (1996) Recovery phase of the murine rod photoresponse reconstructed from electroretinographic recordings. J Neurosci 16: 563-571.
    • (1996) J Neurosci , vol.16 , pp. 563-571
    • Lyubarsky, A.L.1    Pugh Jr., E.N.2
  • 29
    • 0029042741 scopus 로고
    • Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation
    • Birch DG, Hood DC, Nusinowitz S, Pepperberg DR, (1995) Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation. Invest Ophthalmol Vis Sci 36: 1603-1614.
    • (1995) Invest Ophthalmol Vis Sci , vol.36 , pp. 1603-1614
    • Birch, D.G.1    Hood, D.C.2    Nusinowitz, S.3    Pepperberg, D.R.4
  • 30
    • 0347264904 scopus 로고    scopus 로고
    • RGS9-1 is required for normal inactivation of mouse cone phototransduction
    • Lyubarsky AL, Naarendorp F, Zhang X, Wensel T, Simon MI, et al. (2001) RGS9-1 is required for normal inactivation of mouse cone phototransduction. Mol Vis 7: 71-78.
    • (2001) Mol Vis , vol.7 , pp. 71-78
    • Lyubarsky, A.L.1    Naarendorp, F.2    Zhang, X.3    Wensel, T.4    Simon, M.I.5
  • 31
    • 0037495752 scopus 로고    scopus 로고
    • GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice
    • Howes KA, Pennesi ME, Sokal I, Church-Kopish J, Schmidt B, et al. (2002) GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice. EMBO J 21: 1545-1554.
    • (2002) EMBO J , vol.21 , pp. 1545-1554
    • Howes, K.A.1    Pennesi, M.E.2    Sokal, I.3    Church-Kopish, J.4    Schmidt, B.5
  • 32
    • 0032938357 scopus 로고    scopus 로고
    • UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments
    • Lyubarsky AL, Falsini B, Pennesi ME, Valentini P, Pugh EN Jr, (1999) UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments. J Neurosci 19: 442-455.
    • (1999) J Neurosci , vol.19 , pp. 442-455
    • Lyubarsky, A.L.1    Falsini, B.2    Pennesi, M.E.3    Valentini, P.4    Pugh Jr., E.N.5
  • 33
    • 0033560916 scopus 로고    scopus 로고
    • Sensitivity and kinetics of mouse rod flash responses determined in vivo from paired-flash electroretinograms
    • Hetling JR, Pepperberg DR, (1999) Sensitivity and kinetics of mouse rod flash responses determined in vivo from paired-flash electroretinograms. J Physiol 516: 593-609.
    • (1999) J Physiol , vol.516 , pp. 593-609
    • Hetling, J.R.1    Pepperberg, D.R.2
  • 34
    • 0033120924 scopus 로고    scopus 로고
    • Detailed localization of photoreceptor guanylate cyclase activating protein-1 and -2 in mammalian retinas using light and electron microscopy
    • Kachi S, Nishizawa Y, Olshevskaya E, Yamazaki A, Miyake Y, et al. (1999) Detailed localization of photoreceptor guanylate cyclase activating protein-1 and-2 in mammalian retinas using light and electron microscopy. Exp Eye Res 68: 465-473.
    • (1999) Exp Eye Res , vol.68 , pp. 465-473
    • Kachi, S.1    Nishizawa, Y.2    Olshevskaya, E.3    Yamazaki, A.4    Miyake, Y.5
  • 36
    • 0031045876 scopus 로고    scopus 로고
    • Retinopathy induced in mice by targeted disruption of the rhodopsin gene
    • Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, et al. (1997) Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet 15: 216-219.
    • (1997) Nat Genet , vol.15 , pp. 216-219
    • Humphries, M.M.1    Rancourt, D.2    Farrar, G.J.3    Kenna, P.4    Hazel, M.5
  • 37
    • 0033947697 scopus 로고    scopus 로고
    • Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
    • Ali RR, Sarra GM, Stephens C, Alwis MD, Bainbridge JW, et al. (2000) Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet 25: 306-310.
    • (2000) Nat Genet , vol.25 , pp. 306-310
    • Ali, R.R.1    Sarra, G.M.2    Stephens, C.3    Alwis, M.D.4    Bainbridge, J.W.5
  • 39
    • 0029740113 scopus 로고    scopus 로고
    • Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase
    • Tsang SH, Gouras P, Yamashita CK, Kjeldbye H, Fisher J, et al. (1996) Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase. Science 272: 1026-1029.
    • (1996) Science , vol.272 , pp. 1026-1029
    • Tsang, S.H.1    Gouras, P.2    Yamashita, C.K.3    Kjeldbye, H.4    Fisher, J.5
  • 40
    • 0037179759 scopus 로고    scopus 로고
    • Dynamics of cyclic GMP synthesis in retinal rods
    • Burns ME, Mendez A, Chen J, Baylor DA, (2002) Dynamics of cyclic GMP synthesis in retinal rods. Neuron 36: 81-91.
    • (2002) Neuron , vol.36 , pp. 81-91
    • Burns, M.E.1    Mendez, A.2    Chen, J.3    Baylor, D.A.4
  • 41
    • 0038651016 scopus 로고    scopus 로고
    • Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice
    • Pennesi ME, Howes KA, Baehr W, Wu SM, (2003) Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice. Proc Natl Acad Sci U S A 100: 6783-6788.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 6783-6788
    • Pennesi, M.E.1    Howes, K.A.2    Baehr, W.3    Wu, S.M.4
  • 42
    • 18244420029 scopus 로고    scopus 로고
    • Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2
    • Howes K, Bronson JD, Dang YL, Li N, Zhang K, et al. (1998) Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2. Invest Ophthalmol Vis Sci 39: 867-875.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 867-875
    • Howes, K.1    Bronson, J.D.2    Dang, Y.L.3    Li, N.4    Zhang, K.5
  • 44
    • 0034697363 scopus 로고    scopus 로고
    • Lead and calcium produce rod photoreceptor cell apoptosis by opening the mitochondrial permeability transition pore
    • He L, Poblenz AT, Medrano CJ, Fox DA, (2000) Lead and calcium produce rod photoreceptor cell apoptosis by opening the mitochondrial permeability transition pore. J Biol Chem 275: 12175-12184.
    • (2000) J Biol Chem , vol.275 , pp. 12175-12184
    • He, L.1    Poblenz, A.T.2    Medrano, C.J.3    Fox, D.A.4
  • 45
    • 0017081995 scopus 로고
    • Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina
    • Farber DB, Lolley RN, (1976) Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina. J Cyclic Nucleotide Res 2: 139-148.
    • (1976) J Cyclic Nucleotide Res , vol.2 , pp. 139-148
    • Farber, D.B.1    Lolley, R.N.2
  • 46
    • 33846126652 scopus 로고    scopus 로고
    • Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene
    • Chang B, Hawes NL, Pardue MT, German AM, Hurd RE, et al. (2007) Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res 47: 624-633.
    • (2007) Vision Res , vol.47 , pp. 624-633
    • Chang, B.1    Hawes, N.L.2    Pardue, M.T.3    German, A.M.4    Hurd, R.E.5
  • 47
    • 0032881941 scopus 로고    scopus 로고
    • Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse
    • Frasson M, Sahel JA, Fabre M, Simonutti M, Dreyfus H, et al. (1999) Retinitis pigmentosa: rod photoreceptor rescue by a calcium-channel blocker in the rd mouse. Nat Med 5: 1183-1187.
    • (1999) Nat Med , vol.5 , pp. 1183-1187
    • Frasson, M.1    Sahel, J.A.2    Fabre, M.3    Simonutti, M.4    Dreyfus, H.5
  • 49
    • 0346949036 scopus 로고    scopus 로고
    • Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa
    • Pearce-Kelling SE, Aleman TS, Nickle A, Laties AM, Aguirre GD, et al. (2001) Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Mol Vis 7: 42-47.
    • (2001) Mol Vis , vol.7 , pp. 42-47
    • Pearce-Kelling, S.E.1    Aleman, T.S.2    Nickle, A.3    Laties, A.M.4    Aguirre, G.D.5
  • 50
    • 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, 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.