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Volumn 39, Issue 15, 1999, Pages 2537-2544

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial

Author keywords

ABCR gene; Age related macular degeneration; ATP binding; Pedigree

Indexed keywords

ADENOSINE TRIPHOSPHATE;

EID: 0032950521     PISSN: 00426989     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0042-6989(99)00037-1     Document Type: Article
Times cited : (110)

References (52)
  • 5
    • 0031940916 scopus 로고    scopus 로고
    • Long-term follow-up of Stargardt's disease and fundus flavimaculatus
    • Armstrong J.D., Meyer D., Xu S., Elfervig J.L. Long-term follow-up of Stargardt's disease and fundus flavimaculatus. Ophthalmology. 105:1998;448-458.
    • (1998) Ophthalmology , vol.105 , pp. 448-458
    • Armstrong, J.D.1    Meyer, D.2    Xu, S.3    Elfervig, J.L.4
  • 6
    • 0030482567 scopus 로고    scopus 로고
    • Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer
    • Athma P., Rappaport R., Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genetics and Cytogenetics. 92:1996;130-134.
    • (1996) Cancer Genetics and Cytogenetics , vol.92 , pp. 130-134
    • Athma, P.1    Rappaport, R.2    Swift, M.3
  • 7
    • 0031903140 scopus 로고    scopus 로고
    • The human photoreceptor rim protein gene (ABCR): Genomic structure and primer set information for mutation analysis
    • Azarian S.M., Megarity C.F., Weng J., Horvath D.H., Travis G.H. The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis. Human Genetics. 102:1998;699-705.
    • (1998) Human Genetics , vol.102 , pp. 699-705
    • Azarian, S.M.1    Megarity, C.F.2    Weng, J.3    Horvath, D.H.4    Travis, G.H.5
  • 8
    • 0030983124 scopus 로고    scopus 로고
    • The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
    • Azarian S.M., Travis G.H. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Letters. 409:1997;247-252.
    • (1997) FEBS Letters , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 19
    • 0022405410 scopus 로고
    • A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up
    • Gelisken O., De Laey J.J. A clinical review of Stargardt's disease and/or fundus flavimaculatus with follow-up. International Ophthalmology. 8:1985;225-235.
    • (1985) International Ophthalmology , vol.8 , pp. 225-235
    • Gelisken, O.1    De Laey, J.J.2
  • 21
    • 0031913443 scopus 로고    scopus 로고
    • Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease
    • Gerber S., Rozet J.M., van de Pol T.J.R., Hoyng C.B., Munnich A., Blankenagel A., Kaplan J., Cremers F.P.M. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics. 48:1998;139-142.
    • (1998) Genomics , vol.48 , pp. 139-142
    • Gerber, S.1    Rozet, J.M.2    Van De Pol, T.J.R.3    Hoyng, C.B.4    Munnich, A.5    Blankenagel, A.6    Kaplan, J.7    Cremers, F.P.M.8
  • 22
    • 0015890890 scopus 로고
    • Familial hypercholesterolemia: Identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol
    • Goldstein J.L., Brown M.S. Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. Proceedings of the National Academy of Sciences of the USA. 70:1973;2804-2808.
    • (1973) Proceedings of the National Academy of Sciences of the USA , vol.70 , pp. 2804-2808
    • Goldstein, J.L.1    Brown, M.S.2
  • 24
    • 0030969303 scopus 로고    scopus 로고
    • The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
    • Illing M., Molday L.L., Molday R.S. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. Journal of Biological Chemistry. 272:1997;10303-10310.
    • (1997) Journal of Biological Chemistry , vol.272 , pp. 10303-10310
    • Illing, M.1    Molday, L.L.2    Molday, R.S.3
  • 26
    • 0027528652 scopus 로고
    • A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
    • Kajiwara K., Sandberg M.A., Berson E.L., Dryja T.P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genetics. 3:1993;208-212.
    • (1993) Nature Genetics , vol.3 , pp. 208-212
    • Kajiwara, K.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 33
    • 0031922842 scopus 로고    scopus 로고
    • Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
    • Nasonkin I., Illing M., Koehler M.R., Schmid M., Molday R.S., Weber B.H.F. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Human Genetics. 102:1998;21-26.
    • (1998) Human Genetics , vol.102 , pp. 21-26
    • Nasonkin, I.1    Illing, M.2    Koehler, M.R.3    Schmid, M.4    Molday, R.S.5    Weber, B.H.F.6
  • 34
    • 0027401094 scopus 로고
    • Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
    • Nichols B.E., Sheffield V.C., Vandenburgh K., Drack A.V., Kimura A.E., Stone E.M. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genetics. 3:1993;202-207.
    • (1993) Nature Genetics , vol.3 , pp. 202-207
    • Nichols, B.E.1    Sheffield, V.C.2    Vandenburgh, K.3    Drack, A.V.4    Kimura, A.E.5    Stone, E.M.6
  • 35
    • 0017188678 scopus 로고
    • Biosynthetic and immunochemical characterization of a large protein in frog and cattle rod outer segment membranes
    • Papermaster D.S., Converse C.A., Zorn M. Biosynthetic and immunochemical characterization of a large protein in frog and cattle rod outer segment membranes. Experimental Eye Research. 23:1976;105-115.
    • (1976) Experimental Eye Research , vol.23 , pp. 105-115
    • Papermaster, D.S.1    Converse, C.A.2    Zorn, M.3
  • 36
    • 0018187914 scopus 로고
    • Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks
    • Papermaster D.S., Schneider B.G., Zorn M.A., Kraehenbuhl J.P. Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks. Journal of Cell Biology. 78:1978;415-425.
    • (1978) Journal of Cell Biology , vol.78 , pp. 415-425
    • Papermaster, D.S.1    Schneider, B.G.2    Zorn, M.A.3    Kraehenbuhl, J.P.4
  • 44
    • 34347130460 scopus 로고
    • Über familiäre, progressive degeneration in der maculagegend des auges
    • Stargardt K. Über familiäre, progressive degeneration in der maculagegend des auges. Albrecht von Graefe's Archiv für Ophthalmologie. 71:1909;534-550.
    • (1909) Albrecht Von Graefe's Archiv für Ophthalmologie , vol.71 , pp. 534-550
    • Stargardt, K.1
  • 45
    • 0000761427 scopus 로고    scopus 로고
    • Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photorecptor-specific ABC transporter responsible for Stargardt disease
    • Sun H., Molday R. S., Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photorecptor-specific ABC transporter responsible for Stargardt disease. Journal of Biological Chemistry. 274:1999;8269-8281.
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 8269-8281
    • Sun, H.1    Molday, R.S.2    Nathans, J.3
  • 46
    • 0031230154 scopus 로고    scopus 로고
    • Stargardt,s ABCR is localized to the disc membrane of retinal rod outer segments
    • Sun H., Nathans J. Stargardt,s ABCR is localized to the disc membrane of retinal rod outer segments. Nature Genetics. 17:1997;15-16.
    • (1997) Nature Genetics , vol.17 , pp. 15-16
    • Sun, H.1    Nathans, J.2
  • 48
    • 0022404394 scopus 로고
    • Light stimulates phosphorylation of two large membrane proteins in frog photoreceptors
    • Szuts E.Z. Light stimulates phosphorylation of two large membrane proteins in frog photoreceptors. Biochemistry. 24:1985;4176-4184.
    • (1985) Biochemistry , vol.24 , pp. 4176-4184
    • Szuts, E.Z.1
  • 51
    • 0344482553 scopus 로고    scopus 로고
    • Generation of mice with a null mutation in the rim protein RmP gene (ABCR): An animal model for recessive Stargardt's disease
    • Weng J., Azarian S.M., Travis G.H. Generation of mice with a null mutation in the rim protein RmP gene (ABCR): an animal model for recessive Stargardt's disease. Investigative Ophthalmology and Visual Science. 39:1998;S643.
    • (1998) Investigative Ophthalmology and Visual Science , vol.39 , pp. 643
    • Weng, J.1    Azarian, S.M.2    Travis, G.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.