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).


Retinitis Pigmentosa Retinal Degeneration C214S Mutation Cone Dystrophy Retinal Degenerative Disease 
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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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