메뉴 건너뛰기




Volumn 613, Issue , 2008, Pages 129-138

Genetic supplementation of rds alleviates a loss-of-function phenotype in c214s model of retinitis pigmentosa

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; RDS PROTEIN; UNCLASSIFIED DRUG; GLUTAMIC ACID; INTERMEDIATE FILAMENT PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN; PERIPHERIN;

EID: 38949131913     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-74904-4_14     Document Type: Conference Paper
Times cited : (17)

References (35)
  • 1
    • 0033947697 scopus 로고    scopus 로고
    • Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
    • Ali, R. R., Sarra, G. M., Stephens, C., Alwis, M. D., Bainbridge, J. W., Munro, P. M., et al., 2000, Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Nat Genet, 25 , 306-310.
    • (2000) Nat Genet , vol.25 , pp. 306-310
    • Ali, R.R.1    Sarra, G.M.2    Stephens, C.3    Alwis, M.D.4    Bainbridge, J.W.5    Munro, P.M.6
  • 2
    • 0036264862 scopus 로고    scopus 로고
    • Photoreceptor renewal: A role for peripherin/rds
    • Boesze-Battaglia, K., & Goldberg, A. F., 2002, Photoreceptor renewal: a role for peripherin/rds. Int Rev Cytol, 217 , 183-225.
    • (2002) Int Rev Cytol , vol.217 , pp. 183-225
    • Boesze-Battaglia, K.1    Goldberg, A.F.2
  • 3
    • 0036349623 scopus 로고    scopus 로고
    • Effects of adeno-associated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds/peripherin mutation
    • Bok, D., Yasumura, D., Matthes, M. T., Ruiz, A., Duncan, J. L., Chappelow, A. V., et al., 2002, Effects of adeno-associated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds/peripherin mutation. Exp Eye Res, 74 (6), 719-735.
    • (2002) Exp Eye Res , vol.74 , Issue.6 , pp. 719-735
    • Bok, D.1    Yasumura, D.2    Matthes, M.T.3    Ruiz, A.4    Duncan, J.L.5    Chappelow, A.V.6
  • 4
    • 0030831115 scopus 로고    scopus 로고
    • The effect of peripherin/ rds haploinsufficiency on rod and cone photoreceptors
    • Cheng, T., Peachey, N. S., Li, S., Goto, Y., Cao, Y., & Naash, M. I., 1997, The effect of peripherin/ rds haploinsufficiency on rod and cone photoreceptors. J Neurosci, 17 , 8118-8128.
    • (1997) J Neurosci , vol.17 , pp. 8118-8128
    • Cheng, T.1    Peachey, N.S.2    Li, S.3    Goto, Y.4    Cao, Y.5    Naash, M.I.6
  • 5
    • 0020554804 scopus 로고
    • Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice
    • Cohen, A. I., 1983, Some cytological and initial biochemical observations on photoreceptors in retinas of rds mice. Invest Ophthalmol Vis Sci, 24 , 832-843.
    • (1983) Invest Ophthalmol Vis Sci , vol.24 , pp. 832-843
    • Cohen, A.I.1
  • 6
    • 0025371311 scopus 로고
    • Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane
    • Connell, G. J., & Molday, R. S., 1990, Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry, 29 , 4691-4698.
    • (1990) Biochemistry , vol.29 , pp. 4691-4698
    • Connell, G.J.1    Molday, R.S.2
  • 7
    • 5744251093 scopus 로고    scopus 로고
    • The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice
    • Ding, X. Q., Nour, M., Ritter, L. M., Goldberg, A. F., Fliesler, S. J., & Naash, M. I., 2004, The R172W mutation in peripherin/rds causes a cone-rod dystrophy in transgenic mice. Hum Mol Genet, 13 , 2075-2087.
    • (2004) Hum Mol Genet , vol.13 , pp. 2075-2087
    • Ding, X.Q.1    Nour, M.2    Ritter, L.M.3    Goldberg, A.F.4    Fliesler, S.J.5    Naash, M.I.6
  • 8
    • 0030931136 scopus 로고    scopus 로고
    • Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
    • Dryja, T. P., Hahn, L. B., Kajiwara, K., & Berson, E. L., 1997, Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci, 38 , 1972-1982.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 1972-1982
    • Dryja, T.P.1    Hahn, L.B.2    Kajiwara, K.3    Berson, E.L.4
  • 9
    • 0031797571 scopus 로고    scopus 로고
    • Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
    • Ekstrom, U., Ponjavic, V., Abrahamson, M., Nilsson-Ehle, P., Andreasson, S., Stenstrom, I., et al., 1998, Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS. Ophthalmic Genet, 19 , 27-37.
    • (1998) Ophthalmic Genet , vol.19 , pp. 27-37
    • Ekstrom, U.1    Ponjavic, V.2    Abrahamson, M.3    Nilsson-Ehle, P.4    Andreasson, S.5    Stenstrom, I.6
  • 10
    • 0031019503 scopus 로고    scopus 로고
    • Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy
    • Fishman, G. A., Stone, E. M., Alexander, K. R., Gilbert, L. D., Derlacki, D. J., & Butler, N. S., 1997, Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. Ophthalmology, 104 , 299-306.
    • (1997) Ophthalmology , vol.104 , pp. 299-306
    • Fishman, G.A.1    Stone, E.M.2    Alexander, K.R.3    Gilbert, L.D.4    Derlacki, D.J.5    Butler, N.S.6
  • 11
    • 0029870071 scopus 로고    scopus 로고
    • Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy
    • Fossarello, M., Bertini, C., Galantuomo, M. S., Cao, A., Serra, A., & Pirastu, M., 1996, Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. Arch Ophthalmol, 114 , 448-456.
    • (1996) Arch Ophthalmol , vol.114 , pp. 448-456
    • Fossarello, M.1    Bertini, C.2    Galantuomo, M.S.3    Cao, A.4    Serra, A.5    Pirastu, M.6
  • 12
    • 0029764583 scopus 로고    scopus 로고
    • Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene
    • Jacobson, S. G., Cideciyan, A. V., Kemp, C. M., Sheffield, V. C., & Stone, E. M., 1996, Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Invest Ophthalmol Vis Sci, 37 , 1662-1674.
    • (1996) Invest Ophthalmol Vis Sci , vol.37 , pp. 1662-1674
    • Jacobson, S.G.1    Cideciyan, A.V.2    Kemp, C.M.3    Sheffield, V.C.4    Stone, E.M.5
  • 13
    • 0021344659 scopus 로고
    • Development and degeneration of retina in rds mutant mice: Electron microscopy
    • Jansen, H. G., & Sanyal, S., 1984, Development and degeneration of retina in rds mutant mice: electron microscopy. J Comp Neurol, 224 , 71-84.
    • (1984) J Comp Neurol , vol.224 , pp. 71-84
    • Jansen, H.G.1    Sanyal, S.2
  • 14
    • 0031045823 scopus 로고    scopus 로고
    • Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors
    • Kedzierski, W., Lloyd, M., Birch, D. G., Bok, D., & Travis, G. H., 1997, Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors. Invest Ophthalmol Vis Sci, 38 , 498-509.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 498-509
    • Kedzierski, W.1    Lloyd, M.2    Birch, D.G.3    Bok, D.4    Travis, G.H.5
  • 15
    • 0034940212 scopus 로고    scopus 로고
    • Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
    • Kedzierski, W., Nusinowitz, S., Birch, D., Clarke, G., McInnes, R. R., Bok, D., et al., 2001, Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa. Proc Natl Acad Sci U S A,98 , 7718-7723.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 7718-7723
    • Kedzierski, W.1    Nusinowitz, S.2    Birch, D.3    Clarke, G.4    McInnes, R.R.5    Bok, D.6
  • 16
    • 0037809486 scopus 로고    scopus 로고
    • Li, C., Ding, X. Q., O 'Brien, J., Al-Ubaidi, M. R., & Naash, M. I., 2003, Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues. Invest Ophthalmol Vis Sci, 44 , 2433-2441.
    • Li, C., Ding, X. Q., O 'Brien, J., Al-Ubaidi, M. R., & Naash, M. I., 2003, Molecular characterization of the skate peripherin/rds gene: relationship to its orthologues and paralogues. Invest Ophthalmol Vis Sci, 44 , 2433-2441.
  • 17
    • 0035179374 scopus 로고    scopus 로고
    • Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa
    • Liang, F. Q., Aleman, T. S., Dejneka, N. S., Dudus, L., Fisher, K. J., Maguire, A. M., et al., 2001, Long-term protection of retinal structure but not function using RAAV.CNTF in animal models of retinitis pigmentosa. Mol Ther, 4 , 461-472.
    • (2001) Mol Ther , vol.4 , pp. 461-472
    • Liang, F.Q.1    Aleman, T.S.2    Dejneka, N.S.3    Dudus, L.4    Fisher, K.J.5    Maguire, A.M.6
  • 18
    • 0023064180 scopus 로고
    • Peripherin. A rim-specific membrane protein of rod outer segment discs
    • Molday, R. S., Hicks, D., & Molday, L., 1987, Peripherin. A rim-specific membrane protein of rod outer segment discs. Invest Ophthalmol Vis Sci, 28 , 50-61.
    • (1987) Invest Ophthalmol Vis Sci , vol.28 , pp. 50-61
    • Molday, R.S.1    Hicks, D.2    Molday, L.3
  • 19
    • 0030693778 scopus 로고    scopus 로고
    • A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS
    • Nakazawa,M.,Wada, Y., Chida, Y., & Tamai, M., 1997, A correlation between computer-predicted changes in secondary structure and the phenotype of retinal degeneration associated with mutations in peripherin/RDS. Curr Eye Res, 16 , 1134-1141.
    • (1997) Curr Eye Res , vol.16 , pp. 1134-1141
    • Nakazawa, M.1    Wada, Y.2    Chida, Y.3    Tamai, M.4
  • 20
    • 3242880192 scopus 로고    scopus 로고
    • Modulating expression of peripherin/rds in transgenic mice: Critical levels and the effect of overexpression
    • Nour, M., Ding, X. Q., Stricker, H., Fliesler, S. J., & Naash, M. I., 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
  • 21
    • 0141430039 scopus 로고    scopus 로고
    • P2Y(2) receptor agonist INS37217 enhances functional recovery after detachment caused by subretinal injection in normal and rds mice
    • Nour, M., Quiambao, A. B., Peterson, W. M., Al-Ubaidi, M. R., & Naash, M. I., 2003, P2Y(2) receptor agonist INS37217 enhances functional recovery after detachment caused by subretinal injection in normal and rds mice. Invest Ophthalmol Vis Sci, 44 , 4505-4514.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 4505-4514
    • Nour, M.1    Quiambao, A.B.2    Peterson, W.M.3    Al-Ubaidi, M.R.4    Naash, M.I.5
  • 23
    • 0027373291 scopus 로고
    • A novel Cys- 214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa
    • Saga, M., Mashima, Y., Akeo, K., Oguchi, Y., Kudoh, J., & Shimizu, N., 1993, A novel Cys- 214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa. Hum Genet, 92 , 519-521.
    • (1993) Hum Genet , vol.92 , pp. 519-521
    • Saga, M.1    Mashima, Y.2    Akeo, K.3    Oguchi, Y.4    Kudoh, J.5    Shimizu, N.6
  • 24
    • 0019134423 scopus 로고
    • Development and degeneration of retina in rds mutant mice: Light microscopy
    • Sanyal, S., De Ruiter, A., & Hawkins, R. K., 1980, Development and degeneration of retina in rds mutant mice: light microscopy. J Comp Neurol, 194 , 193-207.
    • (1980) J Comp Neurol , vol.194 , pp. 193-207
    • Sanyal, S.1    De Ruiter, A.2    Hawkins, R.K.3
  • 25
    • 0019364889 scopus 로고
    • Absence of receptor outer segments in the retina of rds mutant mice
    • Sanyal, S., & Jansen, H. G., 1981, Absence of receptor outer segments in the retina of rds mutant mice. Neurosci Lett, 21 , 23-26.
    • (1981) Neurosci Lett , vol.21 , pp. 23-26
    • Sanyal, S.1    Jansen, H.G.2
  • 26
    • 0035504663 scopus 로고    scopus 로고
    • Gene replacement therapy in the retinal degeneration slow (rds) mouse: The effect on retinal degeneration following partial transduction of the retina
    • Sarra, G. M., Stephens, C., de Alwis, M., Bainbridge, J. W., Smith, A. J., Thrasher, A. J., et al., 2001, Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina. Hum Mol Genet, 10 , 2353-2361.
    • (2001) Hum Mol Genet , vol.10 , pp. 2353-2361
    • Sarra, G.M.1    Stephens, C.2    de Alwis, M.3    Bainbridge, J.W.4    Smith, A.J.5    Thrasher, A.J.6
  • 27
    • 0037352472 scopus 로고    scopus 로고
    • Intraocular gene delivery of ciliary neurotrophic factor results in significant loss of retinal function in normal mice and in the Prph2Rd2/Rd2 model of retinal degeneration
    • Schlichtenbrede, F. C., MacNeil, A., Bainbridge, J. W., Tschernutter, M., Thrasher, A. J., Smith, A. J., et al., 2003, Intraocular gene delivery of ciliary neurotrophic factor results in significant loss of retinal function in normal mice and in the Prph2Rd2/Rd2 model of retinal degeneration. Gene Ther, 10 , 523-527.
    • (2003) Gene Ther , vol.10 , pp. 523-527
    • Schlichtenbrede, F.C.1    MacNeil, A.2    Bainbridge, J.W.3    Tschernutter, M.4    Thrasher, A.J.5    Smith, A.J.6
  • 28
    • 0034766872 scopus 로고    scopus 로고
    • Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina
    • Sears, J. E., Aaberg, T. A., Sr., Daiger, S. P., & Moshfeghi, D. M., 2001, Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina. Am J Ophthalmol, 132 , 693-699.
    • (2001) Am J Ophthalmol , vol.132 , pp. 693-699
    • Sears, J.E.1    Aaberg Sr., T.A.2    Daiger, S.P.3    Moshfeghi, D.M.4
  • 29
    • 20544441047 scopus 로고    scopus 로고
    • The Cys214-Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice
    • Stricker, H.M., Ding, X. Q., Quiambao, A., Fliesler, S. J., & Naash, M. I., 2005, The Cys214-Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice. Biochem J, 388 , 605-613.
    • (2005) Biochem J , vol.388 , pp. 605-613
    • Stricker, H.M.1    Ding, X.Q.2    Quiambao, A.3    Fliesler, S.J.4    Naash, M.I.5
  • 31
    • 0024571803 scopus 로고
    • Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
    • Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A., & Sutcliffe, J. G., 1989, Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature, 338 , 70-73.
    • (1989) Nature , vol.338 , pp. 70-73
    • Travis, G.H.1    Brennan, M.B.2    Danielson, P.E.3    Kozak, C.A.4    Sutcliffe, J.G.5
  • 32
    • 0026625426 scopus 로고
    • Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice
    • Travis, G. H., Groshan, K. R., Lloyd, M., & Bok, D., 1992, Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron, 9 , 113-119.
    • (1992) Neuron , vol.9 , pp. 113-119
    • Travis, G.H.1    Groshan, K.R.2    Lloyd, M.3    Bok, D.4
  • 33
    • 0018174467 scopus 로고
    • A new H-2-linked mutation, rds, causing retinal degeneration in the mouse
    • van Nie, R., Ivanyi, D., & Demant, P., 1978, A new H-2-linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens, 12 , 106-108.
    • (1978) Tissue Antigens , vol.12 , pp. 106-108
    • van Nie, R.1    Ivanyi, D.2    Demant, P.3
  • 34
    • 0034607831 scopus 로고    scopus 로고
    • Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies
    • Wrigley, J. D., Ahmed, T., Nevett, C. L., & Findlay, J. B., 2000, Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies. J Biol Chem, 275 , 13191-13194.
    • (2000) J Biol Chem , vol.275 , pp. 13191-13194
    • Wrigley, J.D.1    Ahmed, T.2    Nevett, C.L.3    Findlay, J.B.4
  • 35
    • 0036303408 scopus 로고    scopus 로고
    • Butterfly-shaped pattern dystrophy: A genetic, clinical, and histopathological report
    • Zhang, K., Garibaldi, D. C., Li, Y., Green, W. R., & Zack, D. J., 2002, Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. Arch Ophthalmol, 120 , 485-490.
    • (2002) Arch Ophthalmol , vol.120 , pp. 485-490
    • Zhang, K.1    Garibaldi, D.C.2    Li, Y.3    Green, W.R.4    Zack, D.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.