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Genetic Supplementation of RDS Alleviates a Loss-of-function Phenotype in C214S Model of Retinitis Pigmentosa

  • May Nour
  • Steven J. Fliesler
  • Muna I. Naash
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 613)

Mutations in the photoreceptor-specific protein, Rds, have been associated with a large number of inherited retinal degenerative diseases. Reports have described the incidence of retinitis pigmentosa, cone-rod dystrophy, diffuse retinal dystrophy, macular degeneration, and central areolar choroidal dystrophy in patients carrying mutations in the RDS gene (Dryja, Hahn, Kajiwara, & Berson, 1997; Ekstrom et al., 1998; Fishman et al., 1997; Fossarello et al., 1996; Jacobson, Cideciyan, Kemp, Sheffield, & Stone, 1996; Nakazawa, Wada, Chida, & Tamai, 1997; Sears, Aaberg, Daiger, & Moshfeghi, 2001; Zhang, Garibaldi, Li, Green, & Zack, 2002). As a membrane glycoprotein located in the disc rim region in the OSs of rods and cones (Connell & Molday, 1990; Molday, Hicks, & Molday, 1987; Travis, Brennan, Danielson, Kozak, & Sutcliffe, 1989).

Keywords

Retinitis Pigmentosa Retinal Degeneration C214S Mutation Cone Dystrophy Retinal Degenerative Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • May Nour
    • 1
  • Steven J. Fliesler
    • 2
  • Muna I. Naash
    • 3
  1. 1.Cell BiologyUniversity of Oklahoma Health Sciences CenterOklahoma CityUSA
  2. 2.Ophthalmology and Pharmacological & Physiological ScienceSaint Louis University School of MedicineSt. LouisUSA
  3. 3.Department of Cell BiologyUniversity of Oklahoma Health Sciences CenterOklahoma CityUSA

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