메뉴 건너뛰기




Volumn 51, Issue 2, 2010, Pages 1059-1065

Severe retinal degeneration caused by a novel rhodopsin mutation

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; RHODOPSIN; ETHYLNITROSOUREA;

EID: 77449113158     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3585     Document Type: Article
Times cited : (18)

References (35)
  • 1
    • 0026463972 scopus 로고
    • Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
    • Olsson JE, Gordon JW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992;9:815-830.
    • (1992) Neuron , vol.9 , pp. 815-830
    • Olsson, J.E.1    Gordon, J.W.2    Pawlyk, B.S.3
  • 2
    • 0027260657 scopus 로고
    • Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene
    • Huang PC, Gaitan AE, Hao Y, Petters RM, Wong F. Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene. Proc Natl Acad Sci U S A. 1993;90:8484-8488.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 8484-8488
    • Huang, P.C.1    Gaitan, A.E.2    Hao, Y.3    Petters, R.M.4    Wong, F.5
  • 3
    • 0027251934 scopus 로고
    • Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene
    • Naash MI, Hollyfield JG, al-Ubaidi MR, Baehr W. Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci U S A. 1993;90:5499-5503.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 5499-5503
    • Naash, M.I.1    Hollyfield, J.G.2    Al-Ubaidi, M.R.3    Baehr, W.4
  • 4
    • 0031045876 scopus 로고    scopus 로고
    • Retinopathy induced in mice by targeted disruption of the rhodopsin gene
    • Humphries MM, Rancourt D, Farrar GJ, et al. Retinopathy induced in mice by targeted disruption of the rhodopsin gene. Nat Genet. 1997;15:216-219.
    • (1997) Nat Genet , vol.15 , pp. 216-219
    • Humphries, M.M.1    Rancourt, D.2    Farrar, G.J.3
  • 5
    • 0033582173 scopus 로고    scopus 로고
    • Morphological, physiological, and biochemical changes in rhodopsin knockout mice
    • Lem J, Krasnoperova NV, Calvert PD, et al. Morphological, physiological, and biochemical changes in rhodopsin knockout mice. Proc Natl Acad Sci U S A. 1999;96:736-741.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 736-741
    • Lem, J.1    Krasnoperova, N.V.2    Calvert, P.D.3
  • 7
    • 0027935666 scopus 로고
    • A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment
    • Sung CH, Makino C, Baylor D, Nathans J. A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci. 1994;14:5818-5833.
    • (1994) J Neurosci , vol.14 , pp. 5818-5833
    • Sung, C.H.1    Makino, C.2    Baylor, D.3    Nathans, J.4
  • 8
    • 0028947938 scopus 로고
    • Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration
    • Li T, Franson WK, Gordon JW, Berson EL, Dryja TP. Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci U S A. 1995;92: 3551-3555.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 3551-3555
    • Li, T.1    Franson, W.K.2    Gordon, J.W.3    Berson, E.L.4    Dryja, T.P.5
  • 9
    • 0030475229 scopus 로고    scopus 로고
    • Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments
    • Li T, Snyder WK, Olsson JE, Dryja TP. Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A. 1996;93:14176-14181.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 14176-14181
    • Li, T.1    Snyder, W.K.2    Olsson, J.E.3    Dryja, T.P.4
  • 10
    • 0030808480 scopus 로고    scopus 로고
    • Expression of a mutant opsin gene increases the susceptibility of the retina to light damage
    • Wang M, Lam TT, Tso MO, Naash MI. Expression of a mutant opsin gene increases the susceptibility of the retina to light damage. Vis Neurosci. 1997;14:55-62.
    • (1997) Vis Neurosci , vol.14 , pp. 55-62
    • Wang, M.1    Lam, T.T.2    Tso, M.O.3    Naash, M.I.4
  • 11
    • 58149267461 scopus 로고    scopus 로고
    • Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin
    • Dizhoor AM, Woodruff ML, Olshevskaya EV, et al. Night blindness and the mechanism of constitutive signaling of mutant G90D rhodopsin. J Neurosci. 2008;28:11662-11672.
    • (2008) J Neurosci , vol.28 , pp. 11662-11672
    • Dizhoor, A.M.1    Woodruff, M.L.2    Olshevskaya, E.V.3
  • 12
    • 36049049392 scopus 로고    scopus 로고
    • IRE1 signaling affects cell fate during the unfolded protein response
    • Lin JH, Li H, Yasumura D, et al. IRE1 signaling affects cell fate during the unfolded protein response. Science. 2007;318:944-949.
    • (2007) Science , vol.318 , pp. 944-949
    • Lin, J.H.1    Li, H.2    Yasumura, D.3
  • 13
    • 9844225036 scopus 로고    scopus 로고
    • Stratagems in vitro for gene therapies directed to dominant mutations
    • Millington-Ward S, O'Neill B, Tuohy G, et al. Stratagems in vitro for gene therapies directed to dominant mutations. Hum Mol Genet. 1997;6:1415-1426.
    • (1997) Hum Mol Genet , vol.6 , pp. 1415-1426
    • Millington-Ward, S.1    O'Neill, B.2    Tuohy, G.3
  • 14
    • 0032533962 scopus 로고    scopus 로고
    • Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse
    • Cayouette M, Behn D, Sendtner M, Lachapelle P, Gravel C. Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse. J Neurosci. 1998;18:9282-9293.
    • (1998) J Neurosci , vol.18 , pp. 9282-9293
    • Cayouette, M.1    Behn, D.2    Sendtner, M.3    Lachapelle, P.4    Gravel, C.5
  • 15
    • 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, et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet. 2000;25:306-310.
    • (2000) Nat Genet , vol.25 , pp. 306-310
    • Ali, R.R.1    Sarra, G.M.2    Stephens, C.3
  • 16
    • 34347246364 scopus 로고    scopus 로고
    • RNA interference-mediated suppression and replacement of human rhodopsin in vivo
    • O'Reilly M, Palfi A, Chadderton N, et al. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet. 2007;81:127-135.
    • (2007) Am J Hum Genet , vol.81 , pp. 127-135
    • O'Reilly, M.1    Palfi, A.2    Chadderton, N.3
  • 17
    • 0034633619 scopus 로고    scopus 로고
    • Ribozyme rescue of photoreceptor cells in P23H transgenic rats: Long-term survival and late-stage therapy
    • LaVail MM, Yasumura D, Matthes MT, et al. Ribozyme rescue of photoreceptor cells in P23H transgenic rats: long-term survival and late-stage therapy. Proc Natl Acad Sci U S A. 2000;97:11488-11493.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 11488-11493
    • LaVail, M.M.1    Yasumura, D.2    Matthes, M.T.3
  • 18
    • 50849094851 scopus 로고    scopus 로고
    • Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa
    • Guerin K, Gregory-Evans CY, Hodges MD, et al. Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Exp Eye Res. 2008;87:197-207.
    • (2008) Exp Eye Res , vol.87 , pp. 197-207
    • Guerin, K.1    Gregory-Evans, C.Y.2    Hodges, M.D.3
  • 19
    • 0042679529 scopus 로고    scopus 로고
    • Identification of Lps2 as a key transducer of MyD88-independent TIR signalling
    • Hoebe K, Du X, Georgel P, et al. Identification of Lps2 as a key transducer of MyD88-independent TIR signalling. Nature. 2003; 424:743-748.
    • (2003) Nature , vol.424 , pp. 743-748
    • Hoebe, K.1    Du, X.2    Georgel, P.3
  • 20
    • 12144288188 scopus 로고    scopus 로고
    • Velvet, a dominant Egfr mutation that causes wavy hair and defective eyelid development in mice
    • Du X, Tabeta K, Hoebe K, et al. Velvet, a dominant Egfr mutation that causes wavy hair and defective eyelid development in mice. Genetics. 2004;166:331-340.
    • (2004) Genetics , vol.166 , pp. 331-340
    • Du, X.1    Tabeta, K.2    Hoebe, K.3
  • 21
    • 44349149348 scopus 로고    scopus 로고
    • A model for familial exudative vitreoretinopathy caused by LPR5 mutations
    • Xia CH, Liu H, Cheung D, et al. A model for familial exudative vitreoretinopathy caused by LPR5 mutations. Hum Mol Genet. 2008;17:1605-1612.
    • (2008) Hum Mol Genet , vol.17 , pp. 1605-1612
    • Xia, C.H.1    Liu, H.2    Cheung, D.3
  • 22
    • 0346217095 scopus 로고    scopus 로고
    • Canine models of ocular disease: Outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds
    • Kijas JW, Miller BJ, Pearce-Kelling SE, Aguirre GD, Acland GM. Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered. 2003;94:27-30.
    • (2003) J Hered , vol.94 , pp. 27-30
    • Kijas, J.W.1    Miller, B.J.2    Pearce-Kelling, S.E.3    Aguirre, G.D.4    Acland, G.M.5
  • 23
    • 32544444610 scopus 로고    scopus 로고
    • Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse
    • Pinto LH, Vitaterna MH, Shimomura K, et al. Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Vis Neurosci. 2005;22:619-629.
    • (2005) Vis Neurosci , vol.22 , pp. 619-629
    • Pinto, L.H.1    Vitaterna, M.H.2    Shimomura, K.3
  • 24
    • 0031735226 scopus 로고    scopus 로고
    • Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa
    • Milla E, Heon E, Grounauer PA, et al. Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa. Ophthalmic Genet. 1998;19:131-139.
    • (1998) Ophthalmic Genet , vol.19 , pp. 131-139
    • Milla, E.1    Heon, E.2    Grounauer, P.A.3
  • 25
    • 0033515036 scopus 로고    scopus 로고
    • Structure and function in rhodopsin: Further elucidation of the role of the intradiscal cysteines, Cys-110,-185, and-187, in rhodopsin folding and function
    • Hwa J, Reeves PJ, Klein-Seetharaman J, Davidson F, Khorana HG. Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110,-185, and-187, in rhodopsin folding and function. Proc Natl Acad Sci U S A. 1999;96:1932-1935.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 1932-1935
    • Hwa, J.1    Reeves, P.J.2    Klein-Seetharaman, J.3    Davidson, F.4    Khorana, H.G.5
  • 26
    • 0029944275 scopus 로고    scopus 로고
    • Structure and function in rhodopsin: Correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-1253Arg in the transmembrane helix C
    • Garriga P, Liu X, Khorana HG. Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-1253Arg in the transmembrane helix C. Proc Natl Acad Sci U S A. 1996;93: 4560-4564.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 4560-4564
    • Garriga, P.1    Liu, X.2    Khorana, H.G.3
  • 27
    • 0029943263 scopus 로고    scopus 로고
    • Structure and function in rhodopsin: Correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa
    • Liu X, Garriga P, Khorana HG. Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa. Proc Natl Acad Sci U S A. 1996;93:4554-4559.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 4554-4559
    • Liu, X.1    Garriga, P.2    Khorana, H.G.3
  • 28
    • 0030931599 scopus 로고    scopus 로고
    • Structure and function in rhodopsin: Packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled
    • Hwa J, Garriga P, Liu X, Khorana HG. Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled. Proc Natl Acad Sci U S A. 1997;94:10571-10576.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 10571-10576
    • Hwa, J.1    Garriga, P.2    Liu, X.3    Khorana, H.G.4
  • 29
    • 34347204136 scopus 로고    scopus 로고
    • Transport of truncated rhodopsin and its effects on rod function and degeneration
    • Lee ES, Flannery JG. Transport of truncated rhodopsin and its effects on rod function and degeneration. Invest Ophthalmol Vis Sci. 2007;48:2868-2876.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 2868-2876
    • Lee, E.S.1    Flannery, J.G.2
  • 30
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4:280-283.
    • (1993) Nat Genet , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprian, D.D.4
  • 31
    • 0028125886 scopus 로고
    • Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
    • Rao VR, Cohen GB, Oprian DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature. 1994;367:639-642.
    • (1994) Nature , vol.367 , pp. 639-642
    • Rao, V.R.1    Cohen, G.B.2    Oprian, D.D.3
  • 32
    • 0037465429 scopus 로고    scopus 로고
    • Characterization of rhodopsin congenital night blindness mutant T94I
    • Gross AK, Rao VR, Oprian DD. Characterization of rhodopsin congenital night blindness mutant T94I. Biochemistry. 2003;42: 2009-2015.
    • (2003) Biochemistry , vol.42 , pp. 2009-2015
    • Gross, A.K.1    Rao, V.R.2    Oprian, D.D.3
  • 33
    • 34248215318 scopus 로고    scopus 로고
    • Visual rhodopsin sees the light: Structure and mechanism of G protein signaling
    • Ridge KD, Palczewski K. Visual rhodopsin sees the light: structure and mechanism of G protein signaling. J Biol Chem. 2007;282: 9297-9301.
    • (2007) J Biol Chem , vol.282 , pp. 9297-9301
    • Ridge, K.D.1    Palczewski, K.2
  • 35
    • 0025085912 scopus 로고
    • Assembly of functional rhodopsin requires a disulfide bond between cysteine residues 110 and 187
    • Karnik SS, Khorana HG. Assembly of functional rhodopsin requires a disulfide bond between cysteine residues 110 and 187. J Biol Chem. 1990;265:17520-17524.
    • (1990) J Biol Chem , vol.265 , pp. 17520-17524
    • Karnik, S.S.1    Khorana, H.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.