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Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model
The phosphoinositide-3-kinase (PI3K) family plays a major role in cell signaling and is predominant in leukocytes. Gain-of-function (GOF) mutations in the PIK3CD gene lead to the development of activated PI3Kδ syndrome (APDS), a rare primary immunodeficiency disorder. A subset of APDS patients also...
Autores principales: | Serra, Ines, Manusama, Olivia R., Kaiser, Fabian M.P., Floriano, Izi Izumi, Wahl, Lucas, van der Zalm, Christian, IJspeert, Hanna, van Hagen, P. Martin, van Beveren, Nico J.M., Arend, Sandra M., Okkenhaug, Klaus, Pel, Johan J.M., Dalm, Virgil A.S.H., Badura, Aleksandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8579111/ https://www.ncbi.nlm.nih.gov/pubmed/34786564 http://dx.doi.org/10.1016/j.bbih.2021.100377 |
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