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Development of a Cellular Model of Rod Opsin Retinitis Pigmentosa

  • Matthew Adamowicz
  • Antonius Song
  • Samuel Wadsworth
  • Abraham Scaria
  • Catherine O’RiordanEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 723)

Abstract

A cellular model was developed to investigate potential mechanisms of cell death in rod opsin retinitis pigmentosa (RP). This model is based on transient expression of the WT and mutant P23H rod opsin in human retinal pigmented epithelial cells (RPE). Cells expressing mutant P23H opsin, unlike those expressing WT opsin, have altered opsin trafficking, increased markers for ER stress, autophagy, and apoptosis. This cellular model will provide a better understanding of the disease mechanisms associated with rhodopsin RP, while also providing a relevant model to screen potential therapeutics for treatments.

Keywords

Rod opsin Autosomal dominant retinitis pigmentosa P23H opsin Cellular model Unfolded protein response Autophagy 

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Matthew Adamowicz
    • 1
  • Antonius Song
    • 1
  • Samuel Wadsworth
    • 1
  • Abraham Scaria
    • 1
  • Catherine O’Riordan
    • 1
    Email author
  1. 1.Genzyme CorporationFraminghamUSA

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