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

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...

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Main Authors: Carla A.M. Lopes, Suzanna L. Prosser, Leila Romio, Robert A. Hirst, Chris O’Callaghan, Adrian S. Woolf, Andrew M. Fry
格式: Artigo
语言:英语
出版: 2011
在线阅读:https://doi.org/10.1242/jcs.077156
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