TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and signaling by facilitating a protein diffusion barrier at the ciliary base, and TZ defects cause ciliopathies such as Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP) and Joubert syndrome (JBTS) 1. Howev...

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書誌詳細
出版年:Nat Cell Biol
主要な著者: Lambacher, Nils J., Bruel, Ange-Line, van Dam, Teunis J. P., Szymańska, Katarzyna, Slaats, Gisela G., Kuhns, Stefanie, McManus, Gavin J., Kennedy, Julie E., Gaff, Karl, Wu, Ka Man, van der Lee, Robin, Burglen, Lydie, Doummar, Diane, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania, Saunier, Sophie, Curd, Alistair, Peckham, Michelle, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Thauvin-Robinet, Christel, Blacque, Oliver E.
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580800/
https://ncbi.nlm.nih.gov/pubmed/26595381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncb3273
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