Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration

Linjing Li, Naheed Khan, Toby Hurd, Amiya Kumar Ghosh, Christiana Cheng, Robert Molday, John R Heckenlively, Anand Swaroop, Hemant Khanna

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the RP2 gene are associated with 10% to 15% of X-linked retinitis pigmentosa (XLRP), a debilitating disorder characterized by the degeneration of retinal rod and cone photoreceptors. The molecular mechanism of pathogenesis of photoreceptor degeneration in XLRP-RP2 has not been elucidated, and no treatment is currently available. This study was undertaken to investigate the pathogenesis of RP2-associated retinal degeneration.
Original languageEnglish
Pages (from-to)4503-11
Number of pages9
JournalInvestigative Ophthalmology & Visual Science
Volume54
Issue number7
DOIs
Publication statusPublished - Jul 2013

Keywords

  • Animals
  • Disease Models, Animal
  • Electroretinography
  • Eye Proteins
  • Genes, X-Linked
  • Genetic Diseases, X-Linked
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Mice
  • Opsins
  • Photoreceptor Cells
  • Retinitis Pigmentosa

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