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Volumn 572, Issue , 2005, Pages 283-289

Disease mechanisms and gene therapy in a mouse model for X-linked retinoschisis

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALS; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; EYE PROTEINS; GENE THERAPY; IMMUNOHISTOCHEMISTRY; LECTINS; MICE; PEPTIDES; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; PROTOZOAN PROTEINS; RETINA; RETINOSCHISIS; TIME FACTORS;

EID: 33747402342     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper
Times cited : (12)

References (17)
  • 2
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    • The discoidin domain family revisited: New members from prokaryotes and a homology-based fold prediction
    • Baumgartner, S., Hofmann, K., Chiquet-Ehrismann, R. and Bucher, P. (1998) The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction. Protein Sci., 7:1626-1631.
    • (1998) Protein Sci. , vol.7 , pp. 1626-1631
    • Baumgartner, S.1    Hofmann, K.2    Chiquet-Ehrismann, R.3    Bucher, P.4
  • 3
    • 7144253129 scopus 로고    scopus 로고
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
    • Consortium, R. (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum. Mol. Genet., 7:1185-1192. (http://www.dmd.nl/rs)
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1185-1192
    • Consortium, R.1
  • 5
    • 0038695001 scopus 로고    scopus 로고
    • Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin
    • Fraternali, F., Cavallo, L. and Musco, G. (2003) Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. FEBS Lett., 544:21-26.
    • (2003) FEBS Lett. , vol.544 , pp. 21-26
    • Fraternali, F.1    Cavallo, L.2    Musco, G.3
  • 9
    • 0033580310 scopus 로고    scopus 로고
    • The mouse X-linked juvenile retinoschisis cDNA: Expression in photoreceptors
    • Reid, S.N., Akhmedov, N.B., Piriev, N.I., Kozak, C.A., Danciger, M. and Farber, D.B. (1999) The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene, 227:257-266.
    • (1999) Gene , vol.227 , pp. 257-266
    • Reid, S.N.1    Akhmedov, N.B.2    Piriev, N.I.3    Kozak, C.A.4    Danciger, M.5    Farber, D.B.6
  • 11
    • 0002516199 scopus 로고    scopus 로고
    • Juvenile retinoschisis
    • Traboulsi, E.I. (ed.). Oxford University Press, New York
    • Sieving, P.A. (1998) Juvenile Retinoschisis. In Traboulsi, E.I. (ed.), Genetic Diseases of the Eye. Oxford University Press, New York.
    • (1998) Genetic Diseases of the Eye
    • Sieving, P.A.1
  • 13
    • 0032921366 scopus 로고    scopus 로고
    • Discoidin domain receptors: Structural relations and functional implications
    • Vogel, W. (1999) Discoidin domain receptors: structural relations and functional implications. FASEB J., 13 Suppl:S77-S82.
    • (1999) FASEB J. , vol.13 , Issue.SUPPL.
    • Vogel, W.1
  • 14
    • 0037112744 scopus 로고    scopus 로고
    • Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
    • Wang, T., Waters, C.T., Rothman, A.M., Jakins, T.J., Romisch, K. and Trump, D. (2002) Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum. Mol. Genet., 11:3097-3105.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 3097-3105
    • Wang, T.1    Waters, C.T.2    Rothman, A.M.3    Jakins, T.J.4    Romisch, K.5    Trump, D.6
  • 16
    • 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, W.W.H. and Molday, R.S. (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.H.1    Molday, R.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.