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Volumn 7, Issue 8, 2012, Pages

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; MUTANT PROTEIN; PROTEIN RP1; UNCLASSIFIED DRUG; VISUAL PIGMENT;

EID: 84865171844     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0043251     Document Type: Article
Times cited : (21)

References (76)
  • 2
    • 44249120315 scopus 로고    scopus 로고
    • Effect of gene therapy on visual function in Leber's congenital amaurosis
    • Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, et al. (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358: 2231-2239.
    • (2008) N Engl J Med , vol.358 , pp. 2231-2239
    • Bainbridge, J.W.1    Smith, A.J.2    Barker, S.S.3    Robbie, S.4    Henderson, R.5
  • 3
    • 54449085219 scopus 로고    scopus 로고
    • Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
    • Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, 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 15112-15117.
    • (2008) Proc Natl Acad Sci U S A , pp. 15112-15117
    • Cideciyan, A.V.1    Aleman, T.S.2    Boye, S.L.3    Schwartz, S.B.4    Kaushal, S.5
  • 4
    • 70350620424 scopus 로고    scopus 로고
    • Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
    • Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, et al. (2009) Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 374: 1597-1605.
    • (2009) Lancet , vol.374 , pp. 1597-1605
    • Maguire, A.M.1    High, K.A.2    Auricchio, A.3    Wright, J.F.4    Pierce, E.A.5
  • 6
    • 70349105559 scopus 로고    scopus 로고
    • Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year
    • Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, 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.
    • (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
  • 7
    • 77649242176 scopus 로고    scopus 로고
    • Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
    • Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, et al. (2009) Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration. Mol Ther 643-650.
    • (2009) Mol Ther , pp. 643-650
    • Simonelli, F.1    Maguire, A.M.2    Testa, F.3    Pierce, E.A.4    Mingozzi, F.5
  • 8
    • 70449427834 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
    • Cartier N, Hacein-Bey-Abina S, Bartholomae CC, Veres G, Schmidt M, et al. (2009) Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326: 818-823.
    • (2009) Science , vol.326 , pp. 818-823
    • Cartier, N.1    Hacein-Bey-Abina, S.2    Bartholomae, C.C.3    Veres, G.4    Schmidt, M.5
  • 9
    • 0023239517 scopus 로고
    • Functional inactivation of genes by dominant negative mutations
    • Herskowitz I, (1987) Functional inactivation of genes by dominant negative mutations. Nature 329: 219-222.
    • (1987) Nature , vol.329 , pp. 219-222
    • Herskowitz, I.1
  • 10
    • 0742321905 scopus 로고    scopus 로고
    • The nature of dominant mutations of rhodopsin and implications for gene therapy
    • Wilson JH, Wensel TG, (2003) The nature of dominant mutations of rhodopsin and implications for gene therapy. Mol Neurobiol 28: 149-158.
    • (2003) Mol Neurobiol , vol.28 , pp. 149-158
    • Wilson, J.H.1    Wensel, T.G.2
  • 11
    • 67651012121 scopus 로고    scopus 로고
    • Dominant negative factors in health and disease
    • Veitia RA, (2009) Dominant negative factors in health and disease. J Pathol 218: 409-418.
    • (2009) J Pathol , vol.218 , pp. 409-418
    • Veitia, R.A.1
  • 12
    • 39449091111 scopus 로고    scopus 로고
    • The cis-regulatory logic of the mammalian photoreceptor transcriptional network
    • Hsiau TH, Diaconu C, Myers CA, Lee J, Cepko CL, et al. (2007) The cis-regulatory logic of the mammalian photoreceptor transcriptional network. PLoS ONE 2: e643.
    • (2007) PLoS ONE , vol.2
    • Hsiau, T.H.1    Diaconu, C.2    Myers, C.A.3    Lee, J.4    Cepko, C.L.5
  • 13
    • 0034927190 scopus 로고    scopus 로고
    • Pathways to photoreceptor cell death in inherited retinal degenerations
    • Pierce EA, (2001) Pathways to photoreceptor cell death in inherited retinal degenerations. Bioessays 23: 605-618.
    • (2001) Bioessays , vol.23 , pp. 605-618
    • Pierce, E.A.1
  • 15
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, et al. (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 364-366.
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3    Hahn, L.B.4    Cowley, G.S.5
  • 17
    • 84891741178 scopus 로고    scopus 로고
    • RetNet (2012) RetNet Web site address, https://sph.uth.tmc.edu/retnet/.
  • 19
    • 33846957381 scopus 로고    scopus 로고
    • Perspective on genes and mutations causing retinitis pigmentosa
    • Daiger SP, Bowne SJ, Sullivan LS, (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125: 151-158.
    • (2007) Arch Ophthalmol , vol.125 , pp. 151-158
    • Daiger, S.P.1    Bowne, S.J.2    Sullivan, L.S.3
  • 20
    • 33846593490 scopus 로고    scopus 로고
    • Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study
    • Xu L, Hu L, Ma K, Li J, Jonas JB, (2006) Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study. Eur J Ophthalmol 16: 865-866.
    • (2006) Eur J Ophthalmol , vol.16 , pp. 865-866
    • Xu, L.1    Hu, L.2    Ma, K.3    Li, J.4    Jonas, J.B.5
  • 21
    • 0033031796 scopus 로고    scopus 로고
    • Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
    • Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, et al. (1999) Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 22: 248-254.
    • (1999) Nat Genet , vol.22 , pp. 248-254
    • Pierce, E.A.1    Quinn, T.2    Meehan, T.3    McGee, T.L.4    Berson, E.L.5
  • 22
    • 0032989251 scopus 로고    scopus 로고
    • Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
    • Sullivan LS, Heckenlively JR, Bowne SJ, Zuo J, Hide WA, et al. (1999) Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet 22: 255-259.
    • (1999) Nat Genet , vol.22 , pp. 255-259
    • Sullivan, L.S.1    Heckenlively, J.R.2    Bowne, S.J.3    Zuo, J.4    Hide, W.A.5
  • 23
    • 0032838642 scopus 로고    scopus 로고
    • A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus
    • Guillonneau X, Piriev NI, Danciger M, Kozak CA, Cideciyan AV, et al. (1999) A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet 8: 1541-1546.
    • (1999) Hum Mol Genet , vol.8 , pp. 1541-1546
    • Guillonneau, X.1    Piriev, N.I.2    Danciger, M.3    Kozak, C.A.4    Cideciyan, A.V.5
  • 24
    • 0032881729 scopus 로고    scopus 로고
    • Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
    • Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, et al. (1999) Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet 8: 2121-2128.
    • (1999) Hum Mol Genet , vol.8 , pp. 2121-2128
    • Bowne, S.J.1    Daiger, S.P.2    Hims, M.M.3    Sohocki, M.M.4    Malone, K.A.5
  • 27
    • 0034842578 scopus 로고    scopus 로고
    • Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)
    • Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, et al. (2001) Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci 42: 2217-2224.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 2217-2224
    • Berson, E.L.1    Grimsby, J.L.2    Adams, S.M.3    McGee, T.L.4    Sweklo, E.5
  • 28
    • 0002590642 scopus 로고    scopus 로고
    • RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa
    • Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, et al. (2001) RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa. Hum Mutat 17: 436.
    • (2001) Hum Mutat , vol.17 , pp. 436
    • Baum, L.1    Chan, W.M.2    Yeung, K.Y.3    Lam, D.S.4    Kwok, A.K.5
  • 29
    • 0036192714 scopus 로고    scopus 로고
    • A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa
    • Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, et al. (2002) A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa. Br J Ophthalmol 86: 328-332.
    • (2002) Br J Ophthalmol , vol.86 , pp. 328-332
    • Dietrich, K.1    Jacobi, F.K.2    Tippmann, S.3    Schmid, R.4    Zrenner, E.5
  • 30
    • 2942614972 scopus 로고    scopus 로고
    • Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa
    • Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, et al. (2004) Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa. Am J Ophthalmol 137: 1137-1139.
    • (2004) Am J Ophthalmol , vol.137 , pp. 1137-1139
    • Kawamura, M.1    Wada, Y.2    Noda, Y.3    Itabashi, T.4    Ogawa, S.5
  • 31
    • 33646977544 scopus 로고    scopus 로고
    • Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
    • Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, et al. (2005) Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J med Genet 42: e47.
    • (2005) J Med Genet , vol.42
    • Ziviello, C.1    Simonelli, F.2    Testa, F.3    Anastasi, M.4    Marzoli, S.B.5
  • 32
    • 33646244258 scopus 로고    scopus 로고
    • Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
    • Gamundi MJ, Hernan I, Martinez-Gimeno M, Maseras M, Garcia-Sandoval B, et al. (2006) Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. BMC Med Genet 7: 35.
    • (2006) BMC Med Genet , vol.7 , pp. 35
    • Gamundi, M.J.1    Hernan, I.2    Martinez-Gimeno, M.3    Maseras, M.4    Garcia-Sandoval, B.5
  • 33
    • 33644982462 scopus 로고    scopus 로고
    • Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa
    • Roberts L, Bartmann L, Ramesar R, Greenberg J, (2006) Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa. Mol Vis 12: 177-183.
    • (2006) Mol Vis , vol.12 , pp. 177-183
    • Roberts, L.1    Bartmann, L.2    Ramesar, R.3    Greenberg, J.4
  • 34
    • 70349238789 scopus 로고    scopus 로고
    • Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    • Singh HP, Jalali S, Narayanan R, Kannabiran C, (2009) Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening. Invest Ophthalmol Vis Sci 50: 4065-4071.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 4065-4071
    • Singh, H.P.1    Jalali, S.2    Narayanan, R.3    Kannabiran, C.4
  • 35
    • 0036140012 scopus 로고    scopus 로고
    • Identification and Subcellular Localization of the RP1 Protein in Human and Mouse Photoreceptors
    • Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, et al. (2002) Identification and Subcellular Localization of the RP1 Protein in Human and Mouse Photoreceptors. Invest Ophthalmol Vis Sci 43: 22-32.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 22-32
    • Liu, Q.1    Zhou, J.2    Daiger, S.P.3    Farber, D.B.4    Heckenlively, J.R.5
  • 36
    • 0037117491 scopus 로고    scopus 로고
    • Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene
    • Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, et al. (2002) Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A 99: 5698-5703.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 5698-5703
    • Gao, J.1    Cheon, K.2    Nusinowitz, S.3    Liu, Q.4    Bei, D.5
  • 38
    • 3242749615 scopus 로고    scopus 로고
    • The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein
    • Liu Q, Zuo J, Pierce EA, (2004) The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. J Neurosci 24: 6427-6436.
    • (2004) J Neurosci , vol.24 , pp. 6427-6436
    • Liu, Q.1    Zuo, J.2    Pierce, E.A.3
  • 39
    • 18844390690 scopus 로고    scopus 로고
    • Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
    • Khaliq S, Abid A, Ismail M, Hameed A, Mohyuddin A, et al. (2005) Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J med Genet 42: 436-438.
    • (2005) J Med Genet , vol.42 , pp. 436-438
    • Khaliq, S.1    Abid, A.2    Ismail, M.3    Hameed, A.4    Mohyuddin, A.5
  • 40
    • 23244442757 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families
    • Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, et al. (2005) Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci 46: 2264-2270.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 2264-2270
    • Riazuddin, S.A.1    Zulfiqar, F.2    Zhang, Q.3    Sergeev, Y.V.4    Qazi, Z.A.5
  • 41
    • 77951212812 scopus 로고    scopus 로고
    • Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa
    • Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, et al. (2010) Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 51: 2236-2242.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 2236-2242
    • Chen, L.J.1    Lai, T.Y.2    Tam, P.O.3    Chiang, S.W.4    Zhang, X.5
  • 42
    • 79956052939 scopus 로고    scopus 로고
    • High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population
    • Collin RWJ, van den Born LI, Klevering BJ, de Castro-Miro M, Littink KW, et al. (2011) High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci 52: 2227-2239.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 2227-2239
    • Collin, R.W.J.1    van den Born, L.I.2    Klevering, B.J.3    de Castro-Miro, M.4    Littink, K.W.5
  • 43
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • Chang YF, Imam JS, Wilkinson MF, (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76: 51-74.
    • (2007) Annu Rev Biochem , vol.76 , pp. 51-74
    • Chang, Y.F.1    Imam, J.S.2    Wilkinson, M.F.3
  • 44
    • 0035487293 scopus 로고    scopus 로고
    • Recombineering: a powerful new tool for mouse functional genomics
    • Copeland NG, Jenkins NA, Court DL, (2001) Recombineering: a powerful new tool for mouse functional genomics. Nat Rev Genet 2: 769-779.
    • (2001) Nat Rev Genet , vol.2 , pp. 769-779
    • Copeland, N.G.1    Jenkins, N.A.2    Court, D.L.3
  • 45
    • 0036340432 scopus 로고    scopus 로고
    • Towards genetic genome projects: genomic library screening and gene-targeting vector construction in a single step
    • Zhang P, Li MZ, Elledge SJ, (2002) Towards genetic genome projects: genomic library screening and gene-targeting vector construction in a single step. Nat Genet 30: 31-39.
    • (2002) Nat Genet , vol.30 , pp. 31-39
    • Zhang, P.1    Li, M.Z.2    Elledge, S.J.3
  • 46
    • 0034041160 scopus 로고    scopus 로고
    • High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP
    • Rodriguez CI, Buchholz F, Galloway J, Sequerra R, Kasper J, et al. (2000) High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP. Nat Genet 25: 139-140.
    • (2000) Nat Genet , vol.25 , pp. 139-140
    • Rodriguez, C.I.1    Buchholz, F.2    Galloway, J.3    Sequerra, R.4    Kasper, J.5
  • 47
    • 64049089236 scopus 로고    scopus 로고
    • The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background
    • Liu Q, Saveliev A, Pierce EA, (2009) The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. Invest Ophthalmol Vis Sci 50: 1566-1574.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 1566-1574
    • Liu, Q.1    Saveliev, A.2    Pierce, E.A.3
  • 48
    • 26944490411 scopus 로고    scopus 로고
    • A combined approach for the localization and tandem affinity purification of protein complexes from metazoans
    • Cheeseman IM, Desai A, (2005) A combined approach for the localization and tandem affinity purification of protein complexes from metazoans. Sci STKE 2005: l1.
    • (2005) Sci STKE , vol.2005
    • Cheeseman, I.M.1    Desai, A.2
  • 49
    • 37048999786 scopus 로고    scopus 로고
    • A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes
    • Gloeckner CJ, Boldt K, Schumacher A, Roepman R, Ueffing M, (2007) A novel tandem affinity purification strategy for the efficient isolation and characterisation of native protein complexes. Proteomics 7: 4228-4234.
    • (2007) Proteomics , vol.7 , pp. 4228-4234
    • Gloeckner, C.J.1    Boldt, K.2    Schumacher, A.3    Roepman, R.4    Ueffing, M.5
  • 51
    • 33947595161 scopus 로고    scopus 로고
    • Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery
    • Gorbatyuk M, Justilien V, Liu J, Hauswirth WW, Lewin AS, (2007) Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery. Vision Res 47: 1202-1208.
    • (2007) Vision Res , vol.47 , pp. 1202-1208
    • Gorbatyuk, M.1    Justilien, V.2    Liu, J.3    Hauswirth, W.W.4    Lewin, A.S.5
  • 53
    • 34347246364 scopus 로고    scopus 로고
    • RNA interference-mediated suppression and replacement of human rhodopsin in vivo
    • O'Reilly M, Palfi A, Chadderton N, Millington-Ward S, Ader M, et al. (2007) RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet 81: 127-135.
    • (2007) Am J Hum Genet , vol.81 , pp. 127-135
    • O'Reilly, M.1    Palfi, A.2    Chadderton, N.3    Millington-Ward, S.4    Ader, M.5
  • 54
    • 63949087144 scopus 로고    scopus 로고
    • Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy
    • Chadderton N, Millington-Ward S, Palfi A, O'Reilly M, Tuohy G, et al. (2009) Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy. Mol Ther 17: 593-599.
    • (2009) Mol Ther , vol.17 , pp. 593-599
    • Chadderton, N.1    Millington-Ward, S.2    Palfi, A.3    O'Reilly, M.4    Tuohy, G.5
  • 55
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH, (2001) Modifier genes in mice and humans. Nat Rev Genet 2: 165-174.
    • (2001) Nat Rev Genet , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 57
    • 0037320770 scopus 로고    scopus 로고
    • Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
    • Bateman JF, Freddi S, Nattrass G, Savarirayan R, (2003) Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Hum Mol Genet 12: 217-225.
    • (2003) Hum Mol Genet , vol.12 , pp. 217-225
    • Bateman, J.F.1    Freddi, S.2    Nattrass, G.3    Savarirayan, R.4
  • 58
    • 0026463972 scopus 로고
    • Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
    • Olsson JE, Gordon JW, Pawlyk BS, Roof DJ, Hayes A, et al. (1992) Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa. Neuron 9: 815-830.
    • (1992) Neuron , vol.9 , pp. 815-830
    • Olsson, J.E.1    Gordon, J.W.2    Pawlyk, B.S.3    Roof, D.J.4    Hayes, A.5
  • 59
    • 0035095225 scopus 로고    scopus 로고
    • The relationship between opsin overexpression and photoreceptor degeneration
    • Tan E, Wang Q, Quiambao AB, Xu X, Qtaishat NM, et al. (2001) The relationship between opsin overexpression and photoreceptor degeneration. Invest Ophthalmol Vis Sci 42: 589-600.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 589-600
    • Tan, E.1    Wang, Q.2    Quiambao, A.B.3    Xu, X.4    Qtaishat, N.M.5
  • 60
    • 32144454003 scopus 로고    scopus 로고
    • The use of GFP to localize Rho GTPases in living cells
    • Michaelson D, Philips M, (2006) The use of GFP to localize Rho GTPases in living cells. Methods Enzymol 406: 296-315.
    • (2006) Methods Enzymol , vol.406 , pp. 296-315
    • Michaelson, D.1    Philips, M.2
  • 61
    • 38949131913 scopus 로고    scopus 로고
    • Genetic supplementation of RDS alleviates a loss-of-function phenotype in C214S model of retinitis pigmentosa
    • Nour M, Fliesler SJ, Naash MI, (2008) Genetic supplementation of RDS alleviates a loss-of-function phenotype in C214S model of retinitis pigmentosa. Adv Exp Med Biol 613: 129-138.
    • (2008) Adv Exp Med Biol , vol.613 , pp. 129-138
    • Nour, M.1    Fliesler, S.J.2    Naash, M.I.3
  • 62
    • 3242880192 scopus 로고    scopus 로고
    • Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression
    • Nour M, Ding XQ, Stricker H, Fliesler SJ, Naash MI, (2004) Modulating expression of peripherin/rds in transgenic mice: critical levels and the effect of overexpression. Invest Ophthalmol Vis Sci 45: 2514-2521.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 2514-2521
    • Nour, M.1    Ding, X.Q.2    Stricker, H.3    Fliesler, S.J.4    Naash, M.I.5
  • 63
    • 46249091156 scopus 로고    scopus 로고
    • Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)
    • Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, et al. (2008) Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). Hum Mol Genet 17: 2084-2100.
    • (2008) Hum Mol Genet , vol.17 , pp. 2084-2100
    • Tam, L.C.1    Kiang, A.S.2    Kennan, A.3    Kenna, P.F.4    Chadderton, N.5
  • 64
    • 33746681394 scopus 로고    scopus 로고
    • Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
    • Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, et al. (2006) Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 47: 3052-3064.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3052-3064
    • Sullivan, L.S.1    Bowne, S.J.2    Birch, D.G.3    Hughbanks-Wheaton, D.4    Heckenlively, J.R.5
  • 65
    • 0026878962 scopus 로고
    • A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, et al. (1992) A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1: 209-213.
    • (1992) Nat Genet , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5
  • 68
    • 36049049392 scopus 로고    scopus 로고
    • IRE1 signaling affects cell fate during the unfolded protein response
    • Lin JH, Li H, Yasumura D, Cohen HR, Zhang C, et al. (2007) IRE1 signaling affects cell fate during the unfolded protein response. Science 318: 944-949.
    • (2007) Science , vol.318 , pp. 944-949
    • Lin, J.H.1    Li, H.2    Yasumura, D.3    Cohen, H.R.4    Zhang, C.5
  • 69
    • 0037072934 scopus 로고    scopus 로고
    • A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
    • Illing ME, Rajan RS, Bence NF, Kopito RR, (2002) A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J Bio Chem 277: 34150-34160.
    • (2002) J Bio Chem , vol.277 , pp. 34150-34160
    • Illing, M.E.1    Rajan, R.S.2    Bence, N.F.3    Kopito, R.R.4
  • 70
    • 0037099080 scopus 로고    scopus 로고
    • The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
    • Saliba RS, Munro PM, Luthert PJ, Cheetham ME, (2002) The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci 115: 2907-2918.
    • (2002) J Cell Sci , vol.115 , pp. 2907-2918
    • Saliba, R.S.1    Munro, P.M.2    Luthert, P.J.3    Cheetham, M.E.4
  • 71
    • 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, Schwein A, Shabashvili AE, Hauswirth WW, et al. (2011) AAV Delivery of Wild-Type Rhodopsin Preserves Retinal Function in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa. Hum Gene Ther 567-575.
    • (2011) Hum Gene Ther , pp. 567-575
    • Mao, H.1    James, T.2    Schwein, A.3    Shabashvili, A.E.4    Hauswirth, W.W.5
  • 72
    • 59049100882 scopus 로고    scopus 로고
    • ISCEV Standard for full-field clinical electroretinography (2008 update)
    • Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, et al. (2009) ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118: 69-77.
    • (2009) Doc Ophthalmol , vol.118 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3    Miyake, Y.4    Brigell, M.5
  • 73
    • 0035308590 scopus 로고    scopus 로고
    • A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA
    • Lee EC, Yu D, Martinez DV, Tessarollo L, Swing DA, et al. (2001) A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. Genomics 73: 56-65.
    • (2001) Genomics , vol.73 , pp. 56-65
    • Lee, E.C.1    Yu, D.2    Martinez, D.V.3    Tessarollo, L.4    Swing, D.A.5
  • 74
    • 0037352031 scopus 로고    scopus 로고
    • A highly efficient recombineering-based method for generating conditional knockout mutations
    • Liu P, Jenkins NA, Copeland NG, (2003) A highly efficient recombineering-based method for generating conditional knockout mutations. Genome Res 13: 476-484.
    • (2003) Genome Res , vol.13 , pp. 476-484
    • Liu, P.1    Jenkins, N.A.2    Copeland, N.G.3
  • 75
    • 0029562967 scopus 로고
    • Chromosome engineering in mice
    • Ramirez-Solis P, Liu P, Bradley A, (1995) Chromosome engineering in mice. Nature 378: 720-724.
    • (1995) Nature , vol.378 , pp. 720-724
    • Ramirez-Solis, P.1    Liu, P.2    Bradley, A.3


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