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Volumn 91, Issue 7, 2013, Pages 825-837

Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo

Author keywords

AAV; Choroideremia; Gene therapy; Rab escort protein 1; Rab GTPase; Retinitis pigmentosa

Indexed keywords

BETA ACTIN; COMPLEMENTARY DNA; GREEN FLUORESCENT PROTEIN; RAB ESCORT PROTEIN 1; RAB PROTEIN; UNCLASSIFIED DRUG;

EID: 84879842921     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-013-1006-4     Document Type: Article
Times cited : (80)

References (35)
  • 1
    • 0001784666 scopus 로고
    • Choroideremia
    • J.R. Heckenlively (eds) Lippincott New York
    • Heckenlively JR, Bird AJ (1988) Choroideremia. In: Heckenlively JR (ed) Retinitis pigmentosa. Lippincott, New York, pp 176-187
    • (1988) Retinitis Pigmentosa , pp. 176-187
    • Heckenlively, J.R.1    Bird, A.J.2
  • 2
    • 0025064847 scopus 로고
    • Cloning of a gene that is rearranged in patients with choroideraemia
    • 2215697 10.1038/347674a0 1:CAS:528:DyaK3MXhsFyisrc%3D
    • Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-677
    • (1990) Nature , vol.347 , pp. 674-677
    • Cremers, F.P.1    Van De Pol, D.J.2    Van Kerkhoff, L.P.3    Wieringa, B.4    Ropers, H.H.5
  • 4
    • 0035083014 scopus 로고    scopus 로고
    • Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
    • 11297488 10.1016/S0161-6420(00)00643-6 1:STN:280:DC%2BD3M3hslOgtg%3D%3D
    • Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH (2001) Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 108:711-720
    • (2001) Ophthalmology , vol.108 , pp. 711-720
    • Syed, N.1    Smith, J.E.2    John, S.K.3    Seabra, M.C.4    Aguirre, G.D.5    Milam, A.H.6
  • 5
    • 77958126469 scopus 로고    scopus 로고
    • Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia
    • 20445111 10.1167/iovs.09-4892
    • Tolmachova T, Wavre-Shapton ST, Barnard AR, MacLaren RE, Futter CE, Seabra MC (2010) Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia. Invest Ophthalmol Vis Sci 51:4913-4920
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 4913-4920
    • Tolmachova, T.1    Wavre-Shapton, S.T.2    Barnard, A.R.3    Maclaren, R.E.4    Futter, C.E.5    Seabra, M.C.6
  • 6
    • 78751656754 scopus 로고    scopus 로고
    • Role of Rab GTPases in membrane traffic and cell physiology
    • 21248164 10.1152/physrev.00059.2009 1:CAS:528:DC%2BC3MXisVCht74%3D
    • Hutagalung AH, Novick PJ (2011) Role of Rab GTPases in membrane traffic and cell physiology. Physiol Rev 91:119-149
    • (2011) Physiol Rev , vol.91 , pp. 119-149
    • Hutagalung, A.H.1    Novick, P.J.2
  • 7
    • 80053344208 scopus 로고    scopus 로고
    • Rab GTPases and microtubule motors
    • 21936789 10.1042/BST0391202 1:CAS:528:DC%2BC3MXht1ajsrnF
    • Horgan CP, McCaffrey MW (2011) Rab GTPases and microtubule motors. Biochem Soc Trans 39:1202-1206
    • (2011) Biochem Soc Trans , vol.39 , pp. 1202-1206
    • Horgan, C.P.1    McCaffrey, M.W.2
  • 8
    • 23844445866 scopus 로고    scopus 로고
    • The structural and mechanistic basis for recycling of Rab proteins between membrane compartments
    • 15924270 10.1007/s00018-005-4486-8 1:CAS:528:DC%2BD2MXhtFCgtr3I
    • Goody RS, Rak A, Alexandrov K (2005) The structural and mechanistic basis for recycling of Rab proteins between membrane compartments. Cell Mol Life Sci 62:1657-1670
    • (2005) Cell Mol Life Sci , vol.62 , pp. 1657-1670
    • Goody, R.S.1    Rak, A.2    Alexandrov, K.3
  • 9
    • 0028040141 scopus 로고
    • REP-2, a Rab escort protein encoded by the choroideremia-like gene
    • 8294464 1:CAS:528:DyaK2cXhtVeqtLo%3D
    • Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (1994) REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem 269:2111-2117
    • (1994) J Biol Chem , vol.269 , pp. 2111-2117
    • Cremers, F.P.1    Armstrong, S.A.2    Seabra, M.C.3    Brown, M.S.4    Goldstein, J.L.5
  • 10
    • 65349134246 scopus 로고    scopus 로고
    • Choroideremia: New findings from ocular pathology and review of recent literature
    • 19422966 10.1016/j.survophthal.2009.02.008
    • MacDonald IM, Russell L, Chan CC (2009) Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol 54:401-407
    • (2009) Surv Ophthalmol , vol.54 , pp. 401-407
    • Macdonald, I.M.1    Russell, L.2    Chan, C.C.3
  • 11
    • 84858686208 scopus 로고    scopus 로고
    • CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice
    • 22228595 10.1002/jgm.1652 1:CAS:528:DC%2BC38XktFWgtrs%3D
    • Tolmachova T, Tolmachov OE, Wavre-Shapton ST, Tracey-White D, Futter CE, Seabra MC (2012) CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice. J Gene Med 14:158-168
    • (2012) J Gene Med , vol.14 , pp. 158-168
    • Tolmachova, T.1    Tolmachov, O.E.2    Wavre-Shapton, S.T.3    Tracey-White, D.4    Futter, C.E.5    Seabra, M.C.6
  • 16
    • 0031780718 scopus 로고    scopus 로고
    • Woodchuck hepatitis virus enhancer i and enhancer II are both involved in N-myc2 activation in woodchuck liver tumors
    • 9621085 1:CAS:528:DyaK1cXjvFGlur4%3D
    • Flajolet M, Tiollais P, Buendia MA, Fourel G (1998) Woodchuck hepatitis virus enhancer I and enhancer II are both involved in N-myc2 activation in woodchuck liver tumors. J Virol 72:6175-6180
    • (1998) J Virol , vol.72 , pp. 6175-6180
    • Flajolet, M.1    Tiollais, P.2    Buendia, M.A.3    Fourel, G.4
  • 17
    • 11844288284 scopus 로고    scopus 로고
    • Potential oncogene activity of the woodchuck hepatitis post-transcriptional regulatory element (WPRE)
    • 15510172 10.1038/sj.gt.3302417 1:CAS:528:DC%2BD2cXhtVOmsr3O
    • Kingsman SM, Mitrophanous K, Olsen JC (2005) Potential oncogene activity of the woodchuck hepatitis post-transcriptional regulatory element (WPRE). Gene Ther 12:3-4
    • (2005) Gene Ther , vol.12 , pp. 3-4
    • Kingsman, S.M.1    Mitrophanous, K.2    Olsen, J.C.3
  • 18
    • 34250683023 scopus 로고    scopus 로고
    • Safety and tolerability of gene therapy with an adeno-associated virus (AAV) borne GAD gene for Parkinson's disease: An open label, phase i trial
    • 17586305 10.1016/S0140-6736(07)60982-9 1:CAS:528:DC%2BD2sXmvVKqtb4%3D
    • Kaplitt MG, Feigin A, Tang C, Fitzsimons HL, Mattis P, Lawlor PA, Bland RJ, Young D, Strybing K, Eidelberg D et al (2007) Safety and tolerability of gene therapy with an adeno-associated virus (AAV) borne GAD gene for Parkinson's disease: an open label, phase I trial. Lancet 369:2097-2105
    • (2007) Lancet , vol.369 , pp. 2097-2105
    • Kaplitt, M.G.1    Feigin, A.2    Tang, C.3    Fitzsimons, H.L.4    Mattis, P.5    Lawlor, P.A.6    Bland, R.J.7    Young, D.8    Strybing, K.9    Eidelberg, D.10
  • 19
    • 49049092393 scopus 로고    scopus 로고
    • Development and characterization of an adult retinal explant organotypic tissue culture system as an in vitro intraocular stem cell transplantation model
    • 18408186 10.1167/iovs.07-1601
    • Johnson TV, Martin KR (2008) Development and characterization of an adult retinal explant organotypic tissue culture system as an in vitro intraocular stem cell transplantation model. Invest Ophthalmol Vis Sci 49:3503-3512
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 3503-3512
    • Johnson, T.V.1    Martin, K.R.2
  • 21
    • 77956611986 scopus 로고    scopus 로고
    • RAAV2/5 gene-targeting to rods: Dose-dependent efficiency and complications associated with different promoters
    • 20428215 10.1038/gt.2010.56 1:CAS:528:DC%2BC3cXlsVWjtLg%3D
    • Beltran WA, Boye SL, Boye SE, Chiodo VA, Lewin AS, Hauswirth WW, Aguirre GD (2010) rAAV2/5 gene-targeting to rods: dose-dependent efficiency and complications associated with different promoters. Gene Ther 17:1162-1174
    • (2010) Gene Ther , vol.17 , pp. 1162-1174
    • Beltran, W.A.1    Boye, S.L.2    Boye, S.E.3    Chiodo, V.A.4    Lewin, A.S.5    Hauswirth, W.W.6    Aguirre, G.D.7
  • 22
    • 0036310297 scopus 로고    scopus 로고
    • Virus-mediated transduction of murine retina with adeno-associated virus: Effects of viral capsid and genome size
    • 12097579 10.1128/JVI.76.15.7651-7660.2002 1:CAS:528:DC%2BD38XltlKqs7g%3D
    • Yang GS, Schmidt M, Yan Z, Lindbloom JD, Harding TC, Donahue BA, Engelhardt JF, Kotin R, Davidson BL (2002) Virus-mediated transduction of murine retina with adeno-associated virus: effects of viral capsid and genome size. J Virol 76:7651-7660
    • (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    Engelhardt, J.F.7    Kotin, R.8    Davidson, B.L.9
  • 23
    • 77954043461 scopus 로고    scopus 로고
    • Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients
    • 20027300 10.1371/journal.pone.0008402
    • Strunnikova NV, Barb J, Sergeev YV, Thiagarajasubramanian A, Silvin C, Munson PJ, Macdonald IM (2009) Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients. PLoS One 4:e8402
    • (2009) PLoS One , vol.4 , pp. 8402
    • Strunnikova, N.V.1    Barb, J.2    Sergeev, Y.V.3    Thiagarajasubramanian, A.4    Silvin, C.5    Munson, P.J.6    Macdonald, I.M.7
  • 24
    • 0030931963 scopus 로고    scopus 로고
    • Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector
    • 9294208 10.1073/pnas.94.19.10319 1:CAS:528:DyaK2sXmt1Gjsb4%3D
    • Miyoshi H, Takahashi M, Gage FH, Verma IM (1997) Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector. Proc Natl Acad Sci USA 94:10319-10323
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 10319-10323
    • Miyoshi, H.1    Takahashi, M.2    Gage, F.H.3    Verma, I.M.4
  • 25
    • 74049111551 scopus 로고    scopus 로고
    • Induced pluripotent stem cell therapies for retinal disease
    • 10.1097/WCO.0b013e3283352f96
    • Comyn O, Lee E, MacLaren RE (2009) Induced pluripotent stem cell therapies for retinal disease. Curr Opin Neurol 23:4-9
    • (2009) Curr Opin Neurol , vol.23 , pp. 4-9
    • Comyn, O.1    Lee, E.2    Maclaren, R.E.3
  • 26
    • 58049111430 scopus 로고    scopus 로고
    • Reprogramming chick RPE progeny cells to differentiate towards retinal neurons by ash1
    • 19093008 1:CAS:528:DC%2BD1MXnslKitw%3D%3D
    • Mao W, Yan RT, Wang SZ (2008) Reprogramming chick RPE progeny cells to differentiate towards retinal neurons by ash1. Mol Vis 14:2309-2320
    • (2008) Mol Vis , vol.14 , pp. 2309-2320
    • Mao, W.1    Yan, R.T.2    Wang, S.Z.3
  • 27
    • 0023790358 scopus 로고
    • Comparison of intron-dependent and intron-independent gene expression
    • 3185553 1:CAS:528:DyaL1cXmt1eksr0%3D
    • Buchman AR, Berg P (1988) Comparison of intron-dependent and intron-independent gene expression. Mol Cell Biol 8:4395-4405
    • (1988) Mol Cell Biol , vol.8 , pp. 4395-4405
    • Buchman, A.R.1    Berg, P.2
  • 32
    • 0033870226 scopus 로고    scopus 로고
    • Influence of promoter and WHV post-transcriptional regulatory element on AAV-mediated transgene expression in the rat brain
    • 10918501 10.1038/sj.gt.3301221 1:CAS:528:DC%2BD3cXlsVels70%3D
    • Paterna JC, Moccetti T, Mura A, Feldon J, Bueler H (2000) Influence of promoter and WHV post-transcriptional regulatory element on AAV-mediated transgene expression in the rat brain. Gene Ther 7:1304-1311
    • (2000) Gene Ther , vol.7 , pp. 1304-1311
    • Paterna, J.C.1    Moccetti, T.2    Mura, A.3    Feldon, J.4    Bueler, H.5
  • 33
    • 0033588890 scopus 로고    scopus 로고
    • Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: Implications for gene therapy
    • 10515449 10.1089/10430349950016942 1:CAS:528:DyaK1MXmtlWqur8%3D
    • Loeb JE, Cordier WS, Harris ME, Weitzman MD, Hope TJ (1999) Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: implications for gene therapy. Hum Gene Ther 10:2295-2305
    • (1999) Hum Gene Ther , vol.10 , pp. 2295-2305
    • Loeb, J.E.1    Cordier, W.S.2    Harris, M.E.3    Weitzman, M.D.4    Hope, T.J.5
  • 35
    • 39849110435 scopus 로고    scopus 로고
    • Reversal of blindness in animal models of Leber congenital amaurosis using optimized AAV2-mediated gene transfer
    • 18209734 10.1038/sj.mt.6300389 1:CAS:528:DC%2BD1cXisFOku7w%3D
    • Bennicelli J, Wright JF, Komaromy A, Jacobs JB, Hauck B, Zelenaia O, Mingozzi F, Hui D, Chung D, Rex TS et al (2008) Reversal of blindness in animal models of Leber congenital amaurosis using optimized AAV2-mediated gene transfer. Mol Ther 16:458-465
    • (2008) Mol Ther , vol.16 , pp. 458-465
    • Bennicelli, J.1    Wright, J.F.2    Komaromy, A.3    Jacobs, J.B.4    Hauck, B.5    Zelenaia, O.6    Mingozzi, F.7    Hui, D.8    Chung, D.9    Rex, T.S.10


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