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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Acceso en línea:https://doaj.org/article/74724d48da6d4ad88e09abfe678d8216
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spelling oai:doaj.org-article:74724d48da6d4ad88e09abfe678d82162021-12-02T15:39:22ZHuman FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells10.1038/s41467-020-14809-92041-1723https://doaj.org/article/74724d48da6d4ad88e09abfe678d82162020-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14809-9https://doaj.org/toc/2041-1723FCH 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 in T cells.Marcin ŁyszkiewiczNatalia ZiętaraLaura FreyUlrich PannickeMarcel SternYanshan LiuYanxin FanJacek PuchałkaSebastian HollizeckIdo SomekhMeino RohlfsTuğba YilmazEkrem ÜnalMusa KarakukcuTürkan PatiroğluChristina KellererEbru KarasuKarl-Walter SykoraAtar LevAmos SimonRaz SomechJoachim RoeslerManfred HoenigOliver T. KepplerKlaus SchwarzChristoph KleinNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
description 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 in T cells.
format article
author 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
author_facet 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
author_sort Marcin Łyszkiewicz
title Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
title_short Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
title_full Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
title_fullStr Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
title_full_unstemmed Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
title_sort human fcho1 deficiency reveals role for clathrin-mediated endocytosis in development and function of t cells
publisher Nature Portfolio
publishDate 2020
url https://doaj.org/article/74724d48da6d4ad88e09abfe678d8216
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