Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.

@article{Zou2011WhirlinRR,
  title={Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.},
  author={Junhuang Zou and Ling Luo and Zuolian Shen and Vince A. Chiodo and Balamurali Krishna Ambati and William W. Hauswirth and Jun Ying Yang},
  journal={Investigative ophthalmology & visual science},
  year={2011},
  volume={52 5},
  pages={
          2343-51
        }
}
PURPOSE Whirlin is the causative gene for Usher syndrome type IID (USH2D), a condition manifested as both retinitis pigmentosa and congenital deafness. Mutations in this gene cause disruption of the USH2 protein complex composed of USH2A and VLGR1 at the periciliary membrane complex (PMC) in photoreceptors. In this study, the adeno-associated virus (AAV)-mediated whirlin replacement was evaluated as a treatment option. METHODS Murine whirlin cDNA driven by the human rhodopsin kinase promoter… CONTINUE READING

Citations

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Current understanding of usher syndrome type II.

  • Frontiers in bioscience
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CITES BACKGROUND & METHODS
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The expression of whirlin and Cav1.3α1 is mutually independent in photoreceptors

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