Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

@article{Lopes2011CentriolarSA,
  title={Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.},
  author={Carla Alexandra Mendes Lopes and Suzanna L. Prosser and Leila Romio and Robert A. Hirst and Chris O'callaghan and Adrian S Woolf and Andrew M Fry},
  journal={Journal of cell science},
  year={2011},
  volume={124 Pt 4},
  pages={
          600-12
        }
}
Ciliopathies are caused by mutations in genes encoding proteins required for cilia organization or function. We show through colocalization with PCM-1, that OFD1 (the product of the gene mutated in oral-facial-digital syndrome 1) as well as BBS4 and CEP290 (proteins encoded by other ciliopathy genes) are primarily components of centriolar satellites, the particles surrounding centrosomes and basal bodies. RNA interference experiments reveal that satellite integrity is mutually dependent upon… CONTINUE READING

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