CRALBP and Inherited Retinal Degeneration

  • Breandán N. Kennedy
  • John C. Saari
  • John W. Crabb


Missense mutations in the gene encoding cellular retinaldehyde-binding protein (CRALBP) associate with early onset autosomal recessive retinitis pigmentosa (arRP). We show here liquid chromatography electrospray mass spectrometric results from recombinant mutant CRALBP that were instrumental in establishing that the arRP modification was responsible for a loss of protein function. In addition, we present progress in the development of CRALBP knockout mice for studying in vivo functions and therapeutic approaches to retinal degenerations related to CRALBP.


Retinal Pigment Epithelium Retinal Degeneration Ciliary Epithelial Cell Promega Wizard Culture Retinal Pigment Epithelium Cell 
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Copyright information

© Kluwer Academic / Plenum Publishers 1999

Authors and Affiliations

  • Breandán N. Kennedy
    • 1
  • John C. Saari
    • 2
  • John W. Crabb
    • 3
  1. 1.Center for Transgene Research Department of Biological SciencesUniversity of Notre DameNotre Dame
  2. 2.Departments of Ophthalmology and BiochemistryUniversity of Washington SeattleWashington
  3. 3.Cole Eye Institute Cleveland Clinic FoundationCleveland

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