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

Authors :
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
Source :
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Publication Year :
2020
Publisher :
Nature Portfolio, 2020.

Abstract

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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
11
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.74724d48da6d4ad88e09abfe678d8216
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-020-14809-9