Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.

@article{Mockel2012PharmacologicalMO,
  title={Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.},
  author={Anais Mockel and Cathy Obringer and Theodorus B. M. Hakvoort and Mathias Seeliger and Wouter H. Lamers and Corinne Stoetzel and H{\'e}l{\`e}ne J Dollfus and Vincent Marion},
  journal={The Journal of biological chemistry},
  year={2012},
  volume={287 44},
  pages={
          37483-94
        }
}
Ciliopathies, a class of rare genetic disorders, present often with retinal degeneration caused by protein transport defects between the inner segment and the outer segment of the photoreceptors. Bardet-Biedl syndrome is one such ciliopathy, genetically heterogeneous with 17 BBS genes identified to date, presenting early onset retinitis pigmentosa. By investigating BBS12-deprived retinal explants and the Bbs12(-/-) murine model, we show that the impaired intraciliary transport results in… CONTINUE READING
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