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Volumn 5, Issue 8, 2015, Pages 1-13

Convergence of human genetics and animal studies: Gene therapy for X-linked retinoschisis

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; RETINOSCHISIN;

EID: 84938678786     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a017368     Document Type: Article
Times cited : (21)

References (62)
  • 1
    • 33748945422 scopus 로고    scopus 로고
    • The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9
    • Akache B, Grimm D, Pandey K, Yant SR, Xu H, Kay MA. 2006. The 37/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9. J Virol 80: 9831–9836.
    • (2006) J Virol , vol.80 , pp. 9831-9836
    • Akache, B.1    Grimm, D.2    Pandey, K.3    Yant, S.R.4    Xu, H.5    Kay, M.A.6
  • 2
    • 33748664199 scopus 로고    scopus 로고
    • Use of dorzolamide for patients with X-linked retinoschisis
    • Apushkin MA, Fishman GA. 2006. Use of dorzolamide for patients with X-linked retinoschisis. Retina 26: 741–745.
    • (2006) Retina , vol.26 , pp. 741-745
    • Apushkin, M.A.1    Fishman, G.A.2
  • 4
    • 84856966481 scopus 로고    scopus 로고
    • Ocular gene delivery using lentiviral vectors
    • Balaggan KS, Ali RR. 2012. Ocular gene delivery using lentiviral vectors. Gene Ther 19: 145–153.
    • (2012) Gene Ther , vol.19 , pp. 145-153
    • Balaggan, K.S.1    Ali, R.R.2
  • 5
    • 0031455575 scopus 로고    scopus 로고
    • Realtime, noninvasive in vivo assessment of adeno-associated virus-mediated retinal transduction
    • Bennett J, Duan D, Engelhardt JF, Maguire AM. 1997. Realtime, noninvasive in vivo assessment of adeno-associated virus-mediated retinal transduction. Invest Ophthalmol Vis Sci 38: 2857–2863.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 2857-2863
    • Bennett, J.1    Duan, D.2    Engelhardt, J.F.3    Maguire, A.M.4
  • 7
    • 84856144005 scopus 로고    scopus 로고
    • X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects
    • Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA. 2011. X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Invest Ophthalmol Vis Sci 52: 9250–9256.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 9250-9256
    • Bowles, K.1    Cukras, C.2    Turriff, A.3    Sergeev, Y.4    Vitale, S.5    Bush, R.A.6    Sieving, P.A.7
  • 12
    • 54249126862 scopus 로고    scopus 로고
    • Gene therapy using adeno-associated virus vectors
    • Daya S, Berns KI. 2008. Gene therapy using adeno-associated virus vectors. Clin Microbiol Rev 21: 583–593.
    • (2008) Clin Microbiol Rev , vol.21 , pp. 583-593
    • Daya, S.1    Berns, K.I.2
  • 16
    • 34247176150 scopus 로고    scopus 로고
    • Acetazolamide in the treatment of X-linked retinoschisis maculopathy
    • Ghajarnia M, Gorin MB. 2007. Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol 125: 571–573.
    • (2007) Arch Ophthalmol , vol.125 , pp. 571-573
    • Ghajarnia, M.1    Gorin, M.B.2
  • 17
    • 0033860197 scopus 로고    scopus 로고
    • Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    • Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D. 2000. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 9: 1873–1879.
    • (2000) Hum Mol Genet , vol.9 , pp. 1873-1879
    • Grayson, C.1    Reid, S.N.2    Ellis, J.A.3    Rutherford, A.4    Sowden, J.C.5    Yates, J.R.6    Farber, D.B.7    Trump, D.8
  • 18
    • 0001513316 scopus 로고
    • Ueber das zusammenvorkommen von veraenderungen der retina und choroidea
    • Haas J. 1898. Ueber das zusammenvorkommen von veraenderungen der retina und choroidea. Arch Augenheilkd 37: 343–348.
    • (1898) Arch Augenheilkd , vol.37 , pp. 343-348
    • Haas, J.1
  • 19
    • 54949104686 scopus 로고    scopus 로고
    • Phase I trial of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: Shortterm results
    • 0: 081015093227032
    • Hauswirth W, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon T, Boye SL, Flotte TR, Byrne B, et al. 2008. Phase I trial of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: Shortterm results. Hum Gene Ther 0: 081015093227032.
    • (2008) Hum Gene Ther
    • Hauswirth, W.1    Aleman, T.S.2    Kaushal, S.3    Cideciyan, A.V.4    Schwartz, S.B.5    Wang, L.6    Conlon, T.7    Boye, S.L.8    Flotte, T.R.9    Byrne, B.10
  • 20
    • 41149164901 scopus 로고    scopus 로고
    • Resolution of retinoschisis after vitreous surgery in X-linked retinoschisis
    • e711
    • Ikeda F, Iida T, Kishi S. 2008. Resolution of retinoschisis after vitreous surgery in X-linked retinoschisis. Ophthalmology 115: 718–722 e711.
    • (2008) Ophthalmology , vol.115 , pp. 718-722
    • Ikeda, F.1    Iida, T.2    Kishi, S.3
  • 22
    • 0036019204 scopus 로고    scopus 로고
    • Scalable purification of adeno-associated virus type 2, 4, or 5 using ion-exchange chromatography
    • Kaludov N, Handelman B, Chiorini JA. 2002. Scalable purification of adeno-associated virus type 2, 4, or 5 using ion-exchange chromatography. Hum Gene Ther 13: 1235–1243.
    • (2002) Hum Gene Ther , vol.13 , pp. 1235-1243
    • Kaludov, N.1    Handelman, B.2    Chiorini, J.A.3
  • 24
    • 34648823212 scopus 로고    scopus 로고
    • Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration
    • Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA. 2007. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci 48: 3837–3845.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 3837-3845
    • Kjellstrom, S.1    Bush, R.A.2    Zeng, Y.3    Takada, Y.4    Sieving, P.A.5
  • 29
    • 0009762032 scopus 로고
    • Congenital vascular veils in the vitreous
    • Mann I, MacRae A. 1938. Congenital vascular veils in the vitreous. Br J Ophthalmol 22: 1–10.
    • (1938) Br J Ophthalmol , vol.22 , pp. 1-10
    • Mann, I.1    Macrae, A.2
  • 32
    • 84859941823 scopus 로고    scopus 로고
    • X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms
    • Molday RS, Kellner U, Weber BH. 2012. X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res 31: 195–212.
    • (2012) Prog Retin Eye Res , vol.31 , pp. 195-212
    • Molday, R.S.1    Kellner, U.2    Weber, B.H.3
  • 33
    • 9644265332 scopus 로고    scopus 로고
    • Two novel adeno-associated viruses from cynomolgus monkey: Pseudotyping characterization of capsid protein
    • Mori S, Wang L, Takeuchi T, Kanda T. 2004. Two novel adeno-associated viruses from cynomolgus monkey: Pseudotyping characterization of capsid protein. Virology 330: 375–383.
    • (2004) Virology , vol.330 , pp. 375-383
    • Mori, S.1    Wang, L.2    Takeuchi, T.3    Kanda, T.4
  • 34
    • 77954493492 scopus 로고    scopus 로고
    • Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency
    • Pang J, Boye SE, Lei B, Boye SL, Everhart D, Ryals R, Umino Y, Rohrer B, Alexander J, Li J, et al. 2010. Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency. Gene Ther 17: 815–826.
    • (2010) Gene Ther , vol.17 , pp. 815-826
    • Pang, J.1    Boye, S.E.2    Lei, B.3    Boye, S.L.4    Everhart, D.5    Ryals, R.6    Umino, Y.7    Rohrer, B.8    Alexander, J.9    Li, J.10
  • 35
    • 67749111389 scopus 로고    scopus 로고
    • Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse
    • Park TK, Wu Z, Kjellstrom S, Zeng Y, Bush RA, Sieving PA, Colosi P. 2009. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther 16: 916–926.
    • (2009) Gene Ther , vol.16 , pp. 916-926
    • Park, T.K.1    Wu, Z.2    Kjellstrom, S.3    Zeng, Y.4    Bush, R.A.5    Sieving, P.A.6    Colosi, P.7
  • 36
    • 0023120528 scopus 로고
    • Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis
    • Peachey N, Fishman G, Derlacki D, Brigell M. 1987. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 105: 513–516.
    • (1987) Arch Ophthalmol , vol.105 , pp. 513-516
    • Peachey, N.1    Fishman, G.2    Derlacki, D.3    Brigell, M.4
  • 41
    • 0037811339 scopus 로고    scopus 로고
    • Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells
    • Reid SN, Yamashita C, Farber DB. 2003. Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells. J Neurosci 23: 6030–6040.
    • (2003) J Neurosci , vol.23 , pp. 6030-6040
    • Reid, S.N.1    Yamashita, C.2    Farber, D.B.3
  • 43
    • 77952469659 scopus 로고    scopus 로고
    • Molecular modeling of retino schisin with functional analysis of pathogenic mutations from human X-linked retinoschisis
    • Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. 2010. Molecular modeling of retino schisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet 19: 1302–1313.
    • (2010) Hum Mol Genet , vol.19 , pp. 1302-1313
    • Sergeev, Y.V.1    Caruso, R.C.2    Meltzer, M.R.3    Smaoui, N.4    Macdonald, I.M.5    Sieving, P.A.6
  • 45
    • 0033389733 scopus 로고    scopus 로고
    • Juvenile retinoschisis: A model for diagnostic testing of X-linked ophthalmic disease. Trans
    • v97
    • Sieving PA, Yashar BM, Ayyagari R. 2000. Juvenile retinoschisis: A model for diagnostic testing of X-linked ophthalmic disease. Trans Am ophthalmol soc 1999;v97: 451–464. Am J Ophthalmol 129: 833.
    • (2000) Am Ophthalmol Soc , vol.129 , pp. 451-464
    • Sieving, P.A.1    Yashar, B.M.2    Ayyagari, R.3
  • 48
    • 0141560775 scopus 로고    scopus 로고
    • Phase I/II evaluation of safety and efficacy of a matrix-targeted retroviral vector bearing a dominant negative cyclin G1 construct (Md-dnG1) as adjunctive intervention for superficial corneal opacity/corneal scarring
    • Song JC, McDonnell PJ, Gordon EM, Hall FL, Anderson WF. 2003. Phase I/II evaluation of safety and efficacy of a matrix-targeted retroviral vector bearing a dominant negative cyclin G1 construct (Md-dnG1) as adjunctive intervention for superficial corneal opacity/corneal scarring. Hum Gene Ther 14: 306–309.
    • (2003) Hum Gene Ther , vol.14 , pp. 306-309
    • Song, J.C.1    McDonnell, P.J.2    Gordon, E.M.3    Hall, F.L.4    Erson, W.F.5
  • 49
    • 0031906147 scopus 로고    scopus 로고
    • Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions
    • Summerford C, Samulski RJ. 1998. Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions. J Virol 72: 1438–1445.
    • (1998) J Virol , vol.72 , pp. 1438-1445
    • Summerford, C.1    Samulski, R.J.2
  • 50
    • 0032589751 scopus 로고    scopus 로고
    • AlphaVbeta5 integrin: A co-receptor for adeno-associated virus type 2 infection
    • Summerford C, Bartlett JS, Samulski RJ. 1999. AlphaVbeta5 integrin: A co-receptor for adeno-associated virus type 2 infection. Nat Med 5: 78–82.
    • (1999) Nat Med , vol.5 , pp. 78-82
    • Summerford, C.1    Bartlett, J.S.2    Samulski, R.J.3
  • 52
    • 7144253129 scopus 로고    scopus 로고
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium
    • The Retinal Consortium
    • The Retinal Consortium. 1998. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Hum Mol Genet 7: 1185–1192.
    • (1998) Hum Mol Genet , vol.7 , pp. 1185-1192
  • 53
    • 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
  • 55
    • 34047265314 scopus 로고    scopus 로고
    • Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations
    • Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA. 2007. Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci 48: 991– 1000.
    • (2007) Invest Ophthalmol Vis Sci , vol.48
    • Vijayasarathy, C.1    Takada, Y.2    Zeng, Y.3    Bush, R.A.4    Sieving, P.A.5
  • 57
    • 33646341752 scopus 로고    scopus 로고
    • Sensing extracellular matrix: An update on discoidin domain receptor function
    • Vogel WF, Abdulhussein R, Ford CE. 2006. Sensing extracellular matrix: An update on discoidin domain receptor function. Cell Signal 18: 1108–1116.
    • (2006) Cell Signal , vol.18 , pp. 1108-1116
    • Vogel, W.F.1    Abdulhussein, R.2    Ford, C.E.3
  • 58
  • 59
    • 79957554883 scopus 로고
    • Ein der netzhautspaltung (Retinoschisis) mit einer offnung
    • Wilczek M. 1935. Ein der netzhautspaltung (retinoschisis) mit einer offnung. Zeit Augenhlkd 85: 105–116.
    • (1935) Zeit Augenhlkd , vol.85 , pp. 105-116
    • Wilczek, M.1
  • 60
    • 0042346306 scopus 로고    scopus 로고
    • Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis
    • Wu WW, Molday RS. 2003. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 278: 28139–28146.
    • (2003) J Biol Chem , vol.278 , pp. 28139-28146
    • Wu, W.W.1    Molday, R.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.