Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
Identifieur interne : 000143 ( Main/Exploration ); précédent : 000142; suivant : 000144Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
Auteurs : Marcin Łyszkiewicz [Allemagne] ; Natalia Zi Tara [Allemagne] ; Laura Frey [Allemagne] ; Ulrich Pannicke [Allemagne] ; Marcel Stern [Allemagne] ; Yanshan Liu [Allemagne] ; Yanxin Fan [Allemagne] ; Jacek Puchałka [Allemagne] ; Sebastian Hollizeck [Allemagne] ; Ido Somekh [Allemagne] ; Meino Rohlfs [Allemagne] ; Tu Ba Yilmaz [Turquie] ; Ekrem Ünal [Turquie] ; Musa Karakukcu [Turquie] ; Türkan Patiro Lu [Turquie] ; Christina Kellerer [Allemagne] ; Ebru Karasu [Allemagne] ; Karl-Walter Sykora [Allemagne] ; Atar Lev [Israël] ; Amos Simon [Israël] ; Raz Somech [Israël] ; Joachim Roesler [Allemagne] ; Manfred Hoenig [Allemagne] ; Oliver T. Keppler [Allemagne] ; Klaus Schwarz [Allemagne] ; Christoph Klein [Allemagne]Source :
- Nature Communications [ 2041-1723 ] ; 2020.
Abstract
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
Url:
DOI: 10.1038/s41467-020-14809-9
PubMed: 32098969
PubMed Central: 7042371
Affiliations:
- Allemagne, Israël, Turquie
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen
- Munich, Ulm
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Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells</title>
<author><name sortKey="Lyszkiewicz, Marcin" sort="Lyszkiewicz, Marcin" uniqKey="Lyszkiewicz M" first="Marcin" last="Łyszkiewicz">Marcin Łyszkiewicz</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff12"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id>
<institution-id institution-id-type="GRID">grid.5252.0</institution-id>
<institution>Present Address: Institute for Immunology, Biomedical Center Munich,</institution>
<institution>Ludwig-Maximilians-Universität München,</institution>
</institution-wrap>
Planegg-Martinsried, 82152 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Planegg-Martinsried, 82152 Munich</wicri:regionArea>
<wicri:noRegion>82152 Munich</wicri:noRegion>
<placeName><settlement type="city">Munich</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zi Tara, Natalia" sort="Zi Tara, Natalia" uniqKey="Zi Tara N" first="Natalia" last="Zi Tara">Natalia Zi Tara</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff12"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id>
<institution-id institution-id-type="GRID">grid.5252.0</institution-id>
<institution>Present Address: Institute for Immunology, Biomedical Center Munich,</institution>
<institution>Ludwig-Maximilians-Universität München,</institution>
</institution-wrap>
Planegg-Martinsried, 82152 Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Planegg-Martinsried, 82152 Munich</wicri:regionArea>
<wicri:noRegion>82152 Munich</wicri:noRegion>
<placeName><settlement type="city">Munich</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Frey, Laura" sort="Frey, Laura" uniqKey="Frey L" first="Laura" last="Frey">Laura Frey</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pannicke, Ulrich" sort="Pannicke, Ulrich" uniqKey="Pannicke U" first="Ulrich" last="Pannicke">Ulrich Pannicke</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9748</institution-id>
<institution-id institution-id-type="GRID">grid.6582.9</institution-id>
<institution>Institute for Transfusion Medicine,</institution>
<institution>University of Ulm,</institution>
</institution-wrap>
Ulm, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Ulm</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stern, Marcel" sort="Stern, Marcel" uniqKey="Stern M" first="Marcel" last="Stern">Marcel Stern</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id>
<institution-id institution-id-type="GRID">grid.5252.0</institution-id>
<institution>Max von Pettenkofer Institute, Virology, National Reference Center for Retroviruses,</institution>
<institution>Faculty of Medicine, LMU München,</institution>
</institution-wrap>
Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Liu, Yanshan" sort="Liu, Yanshan" uniqKey="Liu Y" first="Yanshan" last="Liu">Yanshan Liu</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fan, Yanxin" sort="Fan, Yanxin" uniqKey="Fan Y" first="Yanxin" last="Fan">Yanxin Fan</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Puchalka, Jacek" sort="Puchalka, Jacek" uniqKey="Puchalka J" first="Jacek" last="Puchałka">Jacek Puchałka</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hollizeck, Sebastian" sort="Hollizeck, Sebastian" uniqKey="Hollizeck S" first="Sebastian" last="Hollizeck">Sebastian Hollizeck</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Somekh, Ido" sort="Somekh, Ido" uniqKey="Somekh I" first="Ido" last="Somekh">Ido Somekh</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rohlfs, Meino" sort="Rohlfs, Meino" uniqKey="Rohlfs M" first="Meino" last="Rohlfs">Meino Rohlfs</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yilmaz, Tu Ba" sort="Yilmaz, Tu Ba" uniqKey="Yilmaz T" first="Tu Ba" last="Yilmaz">Tu Ba Yilmaz</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2331 2603</institution-id>
<institution-id institution-id-type="GRID">grid.411739.9</institution-id>
<institution>Department of Pediatrics, Division of Pediatric Hematology & Oncology,</institution>
<institution>Erciyes University,</institution>
</institution-wrap>
Kayseri, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Kayseri</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Unal, Ekrem" sort="Unal, Ekrem" uniqKey="Unal E" first="Ekrem" last="Ünal">Ekrem Ünal</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2331 2603</institution-id>
<institution-id institution-id-type="GRID">grid.411739.9</institution-id>
<institution>Department of Pediatrics, Division of Pediatric Hematology & Oncology,</institution>
<institution>Erciyes University,</institution>
</institution-wrap>
Kayseri, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Kayseri</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Karakukcu, Musa" sort="Karakukcu, Musa" uniqKey="Karakukcu M" first="Musa" last="Karakukcu">Musa Karakukcu</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2331 2603</institution-id>
<institution-id institution-id-type="GRID">grid.411739.9</institution-id>
<institution>Department of Pediatrics, Division of Pediatric Hematology & Oncology,</institution>
<institution>Erciyes University,</institution>
</institution-wrap>
Kayseri, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Kayseri</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Patiro Lu, Turkan" sort="Patiro Lu, Turkan" uniqKey="Patiro Lu T" first="Türkan" last="Patiro Lu">Türkan Patiro Lu</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2331 2603</institution-id>
<institution-id institution-id-type="GRID">grid.411739.9</institution-id>
<institution>Department of Pediatrics, Division of Pediatric Hematology & Oncology,</institution>
<institution>Erciyes University,</institution>
</institution-wrap>
Kayseri, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Kayseri</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2331 2603</institution-id>
<institution-id institution-id-type="GRID">grid.411739.9</institution-id>
<institution>Department of Pediatrics, Division of Pediatric Immunology,</institution>
<institution>Erciyes University,</institution>
</institution-wrap>
Kayseri, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Kayseri</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kellerer, Christina" sort="Kellerer, Christina" uniqKey="Kellerer C" first="Christina" last="Kellerer">Christina Kellerer</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9748</institution-id>
<institution-id institution-id-type="GRID">grid.6582.9</institution-id>
<institution>Institute for Transfusion Medicine,</institution>
<institution>University of Ulm,</institution>
</institution-wrap>
Ulm, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Ulm</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Karasu, Ebru" sort="Karasu, Ebru" uniqKey="Karasu E" first="Ebru" last="Karasu">Ebru Karasu</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9748</institution-id>
<institution-id institution-id-type="GRID">grid.6582.9</institution-id>
<institution>Institute for Transfusion Medicine,</institution>
<institution>University of Ulm,</institution>
</institution-wrap>
Ulm, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Ulm</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sykora, Karl Walter" sort="Sykora, Karl Walter" uniqKey="Sykora K" first="Karl-Walter" last="Sykora">Karl-Walter Sykora</name>
<affiliation wicri:level="1"><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9529 9877</institution-id>
<institution-id institution-id-type="GRID">grid.10423.34</institution-id>
<institution>Department of Pediatric Hematology/Oncology,</institution>
<institution>Hannover Medical School,</institution>
</institution-wrap>
Hannover, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hannover</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lev, Atar" sort="Lev, Atar" uniqKey="Lev A" first="Atar" last="Lev">Atar Lev</name>
<affiliation wicri:level="1"><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Pediatric Department A and the Immunology Service,</institution>
<institution>Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine Tel Aviv University,</institution>
</institution-wrap>
Tel Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simon, Amos" sort="Simon, Amos" uniqKey="Simon A" first="Amos" last="Simon">Amos Simon</name>
<affiliation wicri:level="1"><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Pediatric Department A and the Immunology Service,</institution>
<institution>Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine Tel Aviv University,</institution>
</institution-wrap>
Tel Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Somech, Raz" sort="Somech, Raz" uniqKey="Somech R" first="Raz" last="Somech">Raz Somech</name>
<affiliation wicri:level="1"><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Pediatric Department A and the Immunology Service,</institution>
<institution>Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine Tel Aviv University,</institution>
</institution-wrap>
Tel Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Roesler, Joachim" sort="Roesler, Joachim" uniqKey="Roesler J" first="Joachim" last="Roesler">Joachim Roesler</name>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2111 7257</institution-id>
<institution-id institution-id-type="GRID">grid.4488.0</institution-id>
<institution>Department of Pediatrics,</institution>
<institution>Carl Gustav Carus Technical University Dresden,</institution>
</institution-wrap>
Dresden, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Dresden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hoenig, Manfred" sort="Hoenig, Manfred" uniqKey="Hoenig M" first="Manfred" last="Hoenig">Manfred Hoenig</name>
<affiliation wicri:level="3"><nlm:aff id="Aff9">Department of Pediatrics, University Medical Centre Ulm, Ulm, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, University Medical Centre Ulm, Ulm</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Keppler, Oliver T" sort="Keppler, Oliver T" uniqKey="Keppler O" first="Oliver T." last="Keppler">Oliver T. Keppler</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 973X</institution-id>
<institution-id institution-id-type="GRID">grid.5252.0</institution-id>
<institution>Max von Pettenkofer Institute, Virology, National Reference Center for Retroviruses,</institution>
<institution>Faculty of Medicine, LMU München,</institution>
</institution-wrap>
Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Munich</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="GRID">grid.452463.2</institution-id>
<institution>German Center for Infection Research (DZIF), Partner Site Munich,</institution>
</institution-wrap>
Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schwarz, Klaus" sort="Schwarz, Klaus" uniqKey="Schwarz K" first="Klaus" last="Schwarz">Klaus Schwarz</name>
<affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1936 9748</institution-id>
<institution-id institution-id-type="GRID">grid.6582.9</institution-id>
<institution>Institute for Transfusion Medicine,</institution>
<institution>University of Ulm,</institution>
</institution-wrap>
Ulm, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Ulm</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 1093 4868</institution-id>
<institution-id institution-id-type="GRID">grid.433743.4</institution-id>
<institution>Institute for Clinical Transfusion Medicine and Immunogenetics Ulm,</institution>
<institution>German Red Cross Blood Service Baden-Wuerttemberg,</institution>
</institution-wrap>
Hessen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hessen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name>
<affiliation wicri:level="3"><nlm:aff id="Aff1">Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature Communications</title>
<idno type="eISSN">2041-1723</idno>
<imprint><date when="2020">2020</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
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<front><div type="abstract" xml:lang="en"><p id="Par1">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 <italic>FCHO1</italic>
in humans were unknown. We identify ten unrelated patients with variable T and B cell lymphopenia, who are homozygous for six distinct mutations in <italic>FCHO1</italic>
. We demonstrate that these mutations either lead to mislocalisation of the protein or prevent its interaction with binding partners. Live-cell imaging of cells expressing mutant variants of FCHO1 provide evidence of impaired formation of clathrin coated pits (CCP). Patient T cells are unresponsive to T cell receptor (TCR) triggering. Internalisation of the TCR receptor is severely perturbed in FCHO1-deficient Jurkat T cells but can be rescued by expression of wild-type FCHO1. Thus, we discovered a previously unrecognised critical role of FCHO1 and CME during T-cell development and function in humans.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Roth, Tf" uniqKey="Roth T">TF Roth</name>
</author>
<author><name sortKey="Porter, Kr" uniqKey="Porter K">KR Porter</name>
</author>
</analytic>
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