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Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Clathrin-mediated endocytosis (CME) is critical for internalisation of molecules across cell membranes. The FCH domain only 1 (FCHO1) protein is key molecule involved in the early stages of CME formation. The consequences of mutations in FCHO1 in humans were unknown. We identify ten unrelated patien...

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Detalles Bibliográficos
Autores principales: Łyszkiewicz, Marcin, Ziętara, Natalia, Frey, Laura, Pannicke, Ulrich, Stern, Marcel, Liu, Yanshan, Fan, Yanxin, Puchałka, Jacek, Hollizeck, Sebastian, Somekh, Ido, Rohlfs, Meino, Yilmaz, Tuğba, Ünal, Ekrem, Karakukcu, Musa, Patiroğlu, Türkan, Kellerer, Christina, Karasu, Ebru, Sykora, Karl-Walter, Lev, Atar, Simon, Amos, Somech, Raz, Roesler, Joachim, Hoenig, Manfred, Keppler, Oliver T., Schwarz, Klaus, Klein, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042371/
https://www.ncbi.nlm.nih.gov/pubmed/32098969
http://dx.doi.org/10.1038/s41467-020-14809-9