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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Dettagli Bibliografici
Pubblicato in:J Cell Biol
Autori principali: Dyson, Jennifer M., Conduit, Sarah E., Feeney, Sandra J., Hakim, Sandra, DiTommaso, Tia, Fulcher, Alex J., Sriratana, Absorn, Ramm, Georg, Horan, Kristy A., Gurung, Rajendra, Wicking, Carol, Smyth, Ian, Mitchell, Christina A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Rockefeller University Press 2017
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223597/
https://ncbi.nlm.nih.gov/pubmed/27998989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1083/jcb.201511055
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