메뉴 건너뛰기




Volumn 114, Issue 5, 2007, Pages 895-898

Leber Congenital Amaurosis Caused by an RPGRIP1 Mutation Shows Treatment Potential

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATING INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

EID: 34247544372     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2006.10.028     Document Type: Article
Times cited : (41)

References (24)
  • 1
    • 1142309835 scopus 로고    scopus 로고
    • Recent advances in early-onset severe retinal degeneration: more than just basic research
    • Preising M.N., and Heegard S. Recent advances in early-onset severe retinal degeneration: more than just basic research. Trends Mol Med 10 (2004) 51-54
    • (2004) Trends Mol Med , vol.10 , pp. 51-54
    • Preising, M.N.1    Heegard, S.2
  • 2
    • 33748664605 scopus 로고    scopus 로고
    • Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    • den Hollander A.I., Koenekoop R.K., Yzer S., et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79 (2006) 556-561
    • (2006) Am J Hum Genet , vol.79 , pp. 556-561
    • den Hollander, A.I.1    Koenekoop, R.K.2    Yzer, S.3
  • 3
    • 28444442243 scopus 로고    scopus 로고
    • Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness
    • Acland G.M., Aguirre G.D., Bennett J., et al. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther 12 (2005) 1072-1082
    • (2005) Mol Ther , vol.12 , pp. 1072-1082
    • Acland, G.M.1    Aguirre, G.D.2    Bennett, J.3
  • 4
    • 28444452653 scopus 로고    scopus 로고
    • Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis
    • Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0020333. Accessed October 9, 2006.
    • Batten M.L., Imanishi Y., Tu D.C., et al. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. Plos Med 2 (2005) e333. http://medicine.plosjournals.org/perlserv/?request=get-document&;doi=10. 1371/journal.pmed.0020333 Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0020333. Accessed October 9, 2006.
    • (2005) Plos Med , vol.2
    • Batten, M.L.1    Imanishi, Y.2    Tu, D.C.3
  • 5
    • 27244446791 scopus 로고    scopus 로고
    • Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
    • Pawlyk B.S., Smith A.J., Buch P.K., et al. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest Ophthalmol Vis Sci 46 (2005) 3039-3045
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3039-3045
    • Pawlyk, B.S.1    Smith, A.J.2    Buch, P.K.3
  • 6
    • 33745608443 scopus 로고    scopus 로고
    • Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness
    • Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0030201. Accessed October 9, 2006.
    • Williams M.L., Coleman J.E., Haire S.E., et al. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. Plos Med 3 (2006) e201. http://medicine.plosjournals.org/perlserv/?request=get-document&;doi=10. 1371/journal.pmed.0030201 Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0030201. Accessed October 9, 2006.
    • (2006) Plos Med , vol.3
    • Williams, M.L.1    Coleman, J.E.2    Haire, S.E.3
  • 7
    • 0038364012 scopus 로고    scopus 로고
    • Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
    • Jacobson S.G., Cideciyan A.V., Aleman T.S., et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 12 (2003) 1073-1078
    • (2003) Hum Mol Genet , vol.12 , pp. 1073-1078
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3
  • 8
    • 20944447776 scopus 로고    scopus 로고
    • Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success
    • Jacobson S.G., Aleman T.S., Cideciyan A.V., et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc Natl Acad Sci U S A 102 (2005) 6177-6182
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 6177-6182
    • Jacobson, S.G.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 9
    • 29044431871 scopus 로고    scopus 로고
    • RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review
    • Koenekoop R.K. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Ophthalmic Genet 26 (2005) 175-179
    • (2005) Ophthalmic Genet , vol.26 , pp. 175-179
    • Koenekoop, R.K.1
  • 10
    • 0035004268 scopus 로고    scopus 로고
    • Null RPGRIP1 alleles in patients with Leber congenital amaurosis
    • Dryja T.P., Adams S.M., Grimsby J.L., et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 68 (2001) 1295-1298
    • (2001) Am J Hum Genet , vol.68 , pp. 1295-1298
    • Dryja, T.P.1    Adams, S.M.2    Grimsby, J.L.3
  • 11
    • 17944371280 scopus 로고    scopus 로고
    • Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    • Gerber S., Perrault I., Hanein S., et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet 9 (2001) 561-571
    • (2001) Eur J Hum Genet , vol.9 , pp. 561-571
    • Gerber, S.1    Perrault, I.2    Hanein, S.3
  • 13
    • 26844436412 scopus 로고    scopus 로고
    • Evaluation of genotype-phenotype associations in Leber congenital amaurosis
    • Galvin J.A., Fishman G.A., Stone E.M., and Koenekoop R.K. Evaluation of genotype-phenotype associations in Leber congenital amaurosis. Retina 25 (2005) 919-929
    • (2005) Retina , vol.25 , pp. 919-929
    • Galvin, J.A.1    Fishman, G.A.2    Stone, E.M.3    Koenekoop, R.K.4
  • 14
    • 0034127482 scopus 로고    scopus 로고
    • Mutation analysis of 3 genes in patients with Leber congenital amaurosis
    • Lotery A.J., Namperumalsamy P., Jacobson S.G., et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 118 (2000) 538-543
    • (2000) Arch Ophthalmol , vol.118 , pp. 538-543
    • Lotery, A.J.1    Namperumalsamy, P.2    Jacobson, S.G.3
  • 15
    • 0035090259 scopus 로고    scopus 로고
    • Mutations in the CRB1 gene cause Leber congenital amaurosis
    • Lotery A.J., Jacobson S.G., Fishman G.A., et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 119 (2001) 415-420
    • (2001) Arch Ophthalmol , vol.119 , pp. 415-420
    • Lotery, A.J.1    Jacobson, S.G.2    Fishman, G.A.3
  • 16
    • 0031732523 scopus 로고    scopus 로고
    • Relation of optical coherence tomography to microanatomy in normal and rd chickens
    • Huang Y., Cideciyan A.V., Papastergiou G.I., et al. Relation of optical coherence tomography to microanatomy in normal and rd chickens. Invest Ophthalmol Vis Sci 39 (1998) 2405-2416
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2405-2416
    • Huang, Y.1    Cideciyan, A.V.2    Papastergiou, G.I.3
  • 17
    • 19944430129 scopus 로고    scopus 로고
    • Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
    • Roman A.J., Schwartz S.B., Aleman T.S., et al. Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res 80 (2005) 259-272
    • (2005) Exp Eye Res , vol.80 , pp. 259-272
    • Roman, A.J.1    Schwartz, S.B.2    Aleman, T.S.3
  • 18
    • 3042651223 scopus 로고    scopus 로고
    • An overview of Leber congenital amaurosis: a model to understand human retinal development
    • Koenekoop R.K. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol 49 (2004) 379-398
    • (2004) Surv Ophthalmol , vol.49 , pp. 379-398
    • Koenekoop, R.K.1
  • 19
    • 33745623848 scopus 로고    scopus 로고
    • Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
    • Available at: http://jmg.bmjjournals.com/cgi/content/abstract/42/11/e67. Accessed October 9, 2006.
    • Booij J.C., Florijn R.J., ten Brink J.B., et al. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. J Med Genet 42 (2005) e67. http://jmg.bmjjournals.com/cgi/content/abstract/42/11/e67 Available at: http://jmg.bmjjournals.com/cgi/content/abstract/42/11/e67. Accessed October 9, 2006.
    • (2005) J Med Genet , vol.42
    • Booij, J.C.1    Florijn, R.J.2    ten Brink, J.B.3
  • 20
    • 0032052472 scopus 로고    scopus 로고
    • Histopathology of the human retina in retinitis pigmentosa
    • Milam A.H., Li Z.Y., and Fariss R.N. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 17 (1998) 175-205
    • (1998) Prog Retin Eye Res , vol.17 , pp. 175-205
    • Milam, A.H.1    Li, Z.Y.2    Fariss, R.N.3
  • 21
    • 23144432156 scopus 로고    scopus 로고
    • Retinal remodeling during retinal degeneration
    • Jones B.W., and Marc R.E. Retinal remodeling during retinal degeneration. Exp Eye Res 81 (2005) 123-137
    • (2005) Exp Eye Res , vol.81 , pp. 123-137
    • Jones, B.W.1    Marc, R.E.2
  • 22
    • 18244410390 scopus 로고    scopus 로고
    • The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia
    • Rattner A., and Nathans J. The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia. J Neurosci 25 (2005) 4540-4549
    • (2005) J Neurosci , vol.25 , pp. 4540-4549
    • Rattner, A.1    Nathans, J.2
  • 24
    • 0030220138 scopus 로고    scopus 로고
    • Glia cells of the monkey retina-II. Muller cells
    • Distler C., and Dreher Z. Glia cells of the monkey retina-II. Muller cells. Vision Res 36 (1996) 2381-2394
    • (1996) Vision Res , vol.36 , pp. 2381-2394
    • Distler, C.1    Dreher, Z.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.