INPP5E regulates phosphoinositide-dependent cilia transition zone function

Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; howeve...

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Main Authors: Jennifer M. Dyson, Sarah E. Conduit, Sandra J. Feeney, Sandra Hakim, Tia DiTommaso, Alex J. Fulcher, Absorn Sriratana, Georg Ramm, Kristy Horan, Rajendra Gurung, Carol Wicking, Ian Smyth, Christina A. Mitchell
格式: Artigo
语言:英语
出版: 2016
在线阅读:https://doi.org/10.1083/jcb.201511055
https://rupress.org/jcb/article-pdf/216/1/247/1373360/jcb_201511055.pdf
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