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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Détails bibliographiques
Publié dans:J Cell Biol
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: The Rockefeller University Press 2017
Sujets:
Research Articles
Accès en ligne: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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