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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Detalhes bibliográficos
Publicado no:J Cell Biol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2017
Assuntos:
Research Articles
Acesso em linha: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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