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Nature Medicine  3, 1196 - 1197 (1997)
doi:10.1038/nm1197-1196

The ABCs of AMD

Gabriel H. Travis1 & Jean Bennett2

  1Department of Psychiatry, UT Southwestern Medical Center, Dallas, Texas 75235, USA

  2F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA

The identification of mutations causing age-related macular degeneration paves the way for earlier diagnoses and studies of pathogenic mechanisms.

REFERENCES
  1. National Advisory Eye Council. Vision Research, a National Plan, 1994−1998. NIH publication 933186 (National Institutes of Health, Bethesda, MD, 1993).
  2. Allikmets, R. et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805−1807 (1997). | Article | PubMed  | ISI | ChemPort |
  3. Allikmets, R. et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15, 236−246 (1997). | Article | PubMed  | ISI | ChemPort |
  4. Shastry, B.S. Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. Am. J. Med. Genet. 52, 467−474 (1994). | PubMed  | ISI | ChemPort |
  5. Azarian, S. & Travis, G. The photoreceptor rim protein is an ABC Transporter encoded by the gene for recessive Stargardt's Disease (ABCR). FEBS Letts. 409, 247−252 (1997). | Article | ChemPort |
  6. Illing, M., Molday, L. & Molday, R. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J. Biol. Chem. 272, 10303−10310 (1997). | Article | PubMed  | ISI | ChemPort |
  7. Szuts, E.Z. Light stimulates phosphorylation of two large membrane proteins in frog photoreceptors. Biochemistry 24, 4176−4184 (1985). | PubMed  | ISI | ChemPort |
  8. Becq, F. et al. ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic Cells generates a regulated anion flux after expression in Xenopus laevis oocytes. J. Biol. Chem. 272, 2695−2699 (1997). | Article | PubMed  | ISI | ChemPort |
  9. Sun, H. & Nathans, J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nature Genet. 17, 15−16 (1997). | Article | PubMed  | ISI | ChemPort |
  10. Papermaster, D.S., Reilly, P. & Schneider, B.G. Cone lamellae and red and green rod outer segment disks contain a large intrinsic membrane protein on their margins: An ultrastructural immunocytochemical study of frog retinas. Vision Res. 22, 1417−1428 (1982). | Article | PubMed  | ISI | ChemPort |
  11. Arikawa, K., MOLDAY, R. & Williams, D. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: Relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Bio. 116, 659−667 (1992). | Article | ISI | ChemPort |
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Nature Medicine
ISSN: 1078-8956
EISSN: 1546-170X
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