title: A "so cilia" network: cilia proteins start "social" networking.
abstract: Cilia are unique cellular organelles found in nearly all cell types. In recent years, the importance of these organelles has been highlighted by the discovery that mutations in genes encoding proteins related to cilia biogenesis and function cause a class of complex syndromes termed ciliopathies. Emerging evidence suggests interactions among the various ciliopathy-associated proteins, but the precise mechanisms by which these interactions generate functional networks have remained elusive. In this issue of the JCI, Rachel and colleagues have now clearly linked two ciliopathy-associated proteins (CEP290 and MKKS). Surprisingly, the effects of a hypomorphic disease-causing Cep290 allele were rescued by loss of MKKS function, suggesting that it might be possible to treat some ciliopathies by fine-tuning interactions within the expanding ciliary network.
authors.affiliation: Institut Curie, CNRS UMR3306, and INSERM U1005, Orsay, France. Frederic.Saudou@curie.fr
authors.forename: Frédéric
authors.initials: F
authors.lastname: Saudou
mesh_terms: D000818:Animals; D000951:Antigens, Neoplasm / Q000235:genetics*; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D018797:Cell Cycle Proteins; D002923:Cilia / Q000648:ultrastructure*; D003598:Cytoskeletal Proteins; D018507:Gene Expression Regulation, Developmental; D056385:Group II Chaperonins / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D012678:Sensation Disorders / Q000235:genetics*
chemical_list: D000951:Antigens, Neoplasm; D018797:Cell Cycle Proteins; C493903:Cep290 protein, human; C513600:Cep290 protein, mouse; D003598:Cytoskeletal Proteins; C414726:MKKS protein, human; C506279:Mkks protein, mouse; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D056385:Group II Chaperonins