Molecular biology tools for the study and therapy of PDE6β mutations

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2 Citations (Scopus)


Gene therapy has the potential for treating retinal diseases, and we have been developing delivery vehicles and expression vectors for this purpose. In this short communication, we describe the generation of tools for both in vitro studies of the disease mechanism and for in vivo testing of therapeutic approaches. We have cloned the PDE6β gene and also recreated the same mutation present in the rd10 mouse using an optimized plasmid vector. To allow visual detection, we have also generated, through site-directed mutagenesis, plasmids expressing the normal and mutated PDE6β gene fused with the GFP gene. Next, we have transfected retinal pigment epithelium cells with the different vectors and detected the protein expression of both the normal and mutated PDE6β. With this work we have created gene therapy tools for in vitro and in vivo studies of retinal disease-causing mutations, namely for the PDE6β implicated in retinitis pigmentosa.

Original languageEnglish
Pages (from-to)1-5
Number of pages5
JournalJournal of Biotechnology
Publication statusPublished - 20 Oct 2018


  • Expression systems
  • PDE6β
  • Protein expression
  • Retinal pigment epithelium


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