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

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

FCH domain only 1 (FCHO1) is a key molecule involved in clathrin-mediated endocytosis (CME). Here, the authors report homozygous FCHO1 mutations in individuals with variable T and B cell lymphopenia, which are associated with loss-of-function of FCHO1 and impaired formation of clathrin-coated pits i...

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Autores principales: Marcin Łyszkiewicz, Natalia Ziętara, Laura Frey, Ulrich Pannicke, Marcel Stern, Yanshan Liu, Yanxin Fan, Jacek Puchałka, Sebastian Hollizeck, Ido Somekh, Meino Rohlfs, Tuğba Yilmaz, Ekrem Ünal, Musa Karakukcu, Türkan Patiroğlu, Christina Kellerer, Ebru Karasu, Karl-Walter Sykora, Atar Lev, Amos Simon, Raz Somech, Joachim Roesler, Manfred Hoenig, Oliver T. Keppler, Klaus Schwarz, Christoph Klein
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Science
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Acceso en línea:https://doaj.org/article/74724d48da6d4ad88e09abfe678d8216
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https://doaj.org/article/74724d48da6d4ad88e09abfe678d8216

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