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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223597/
https://www.ncbi.nlm.nih.gov/pubmed/27998989
http://dx.doi.org/10.1083/jcb.201511055

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