Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
Identifieur interne : 000154 ( Pmc/Curation ); précédent : 000153; suivant : 000155Human 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
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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>
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Planegg-Martinsried, 82152 Munich, Germany</nlm:aff>
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<country xml:lang="fr">Allemagne</country>
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Ulm, Germany</nlm:aff>
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Munich, Germany</nlm:aff>
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<author><name sortKey="Liu, Yanshan" sort="Liu, Yanshan" uniqKey="Liu Y" first="Yanshan" last="Liu">Yanshan Liu</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
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<author><name sortKey="Fan, Yanxin" sort="Fan, Yanxin" uniqKey="Fan Y" first="Yanxin" last="Fan">Yanxin Fan</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Puchalka, Jacek" sort="Puchalka, Jacek" uniqKey="Puchalka J" first="Jacek" last="Puchałka">Jacek Puchałka</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hollizeck, Sebastian" sort="Hollizeck, Sebastian" uniqKey="Hollizeck S" first="Sebastian" last="Hollizeck">Sebastian Hollizeck</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Somekh, Ido" sort="Somekh, Ido" uniqKey="Somekh I" first="Ido" last="Somekh">Ido Somekh</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rohlfs, Meino" sort="Rohlfs, Meino" uniqKey="Rohlfs M" first="Meino" last="Rohlfs">Meino Rohlfs</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yilmaz, Tu Ba" sort="Yilmaz, Tu Ba" uniqKey="Yilmaz T" first="Tu Ba" last="Yilmaz">Tu Ba Yilmaz</name>
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<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>
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<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>
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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>
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<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>
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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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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="1"><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>
</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="1"><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>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature Communications</title>
<idno type="eISSN">2041-1723</idno>
<imprint><date when="2020">2020</date>
</imprint>
</series>
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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>
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<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Nat Commun</journal-id>
<journal-id journal-id-type="iso-abbrev">Nat Commun</journal-id>
<journal-title-group><journal-title>Nature Communications</journal-title>
</journal-title-group>
<issn pub-type="epub">2041-1723</issn>
<publisher><publisher-name>Nature Publishing Group UK</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">32098969</article-id>
<article-id pub-id-type="pmc">7042371</article-id>
<article-id pub-id-type="publisher-id">14809</article-id>
<article-id pub-id-type="doi">10.1038/s41467-020-14809-9</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes" equal-contrib="yes"><name><surname>Łyszkiewicz</surname>
<given-names>Marcin</given-names>
</name>
<address><email>Marcin.Lyszkiewicz@med.uni-muenchen.de</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff12">12</xref>
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<contrib contrib-type="author" equal-contrib="yes"><name><surname>Ziętara</surname>
<given-names>Natalia</given-names>
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<contrib contrib-type="author"><name><surname>Frey</surname>
<given-names>Laura</given-names>
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<xref ref-type="aff" rid="Aff1">1</xref>
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<contrib contrib-type="author"><name><surname>Pannicke</surname>
<given-names>Ulrich</given-names>
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<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-7692-6905</contrib-id>
<name><surname>Stern</surname>
<given-names>Marcel</given-names>
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</contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-2452-0970</contrib-id>
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<given-names>Yanshan</given-names>
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<xref ref-type="aff" rid="Aff1">1</xref>
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<given-names>Yanxin</given-names>
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<xref ref-type="aff" rid="Aff1">1</xref>
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<contrib contrib-type="author" deceased="yes"><name><surname>Puchałka</surname>
<given-names>Jacek</given-names>
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<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-9504-3497</contrib-id>
<name><surname>Hollizeck</surname>
<given-names>Sebastian</given-names>
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<xref ref-type="aff" rid="Aff1">1</xref>
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<contrib contrib-type="author"><name><surname>Somekh</surname>
<given-names>Ido</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rohlfs</surname>
<given-names>Meino</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Yilmaz</surname>
<given-names>Tuğba</given-names>
</name>
<xref ref-type="aff" rid="Aff4">4</xref>
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<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0002-2691-4826</contrib-id>
<name><surname>Ünal</surname>
<given-names>Ekrem</given-names>
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</contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0003-2015-3541</contrib-id>
<name><surname>Karakukcu</surname>
<given-names>Musa</given-names>
</name>
<xref ref-type="aff" rid="Aff4">4</xref>
</contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0003-2471-764X</contrib-id>
<name><surname>Patiroğlu</surname>
<given-names>Türkan</given-names>
</name>
<xref ref-type="aff" rid="Aff4">4</xref>
<xref ref-type="aff" rid="Aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kellerer</surname>
<given-names>Christina</given-names>
</name>
<xref ref-type="aff" rid="Aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Karasu</surname>
<given-names>Ebru</given-names>
</name>
<xref ref-type="aff" rid="Aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sykora</surname>
<given-names>Karl-Walter</given-names>
</name>
<xref ref-type="aff" rid="Aff6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lev</surname>
<given-names>Atar</given-names>
</name>
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<contrib contrib-type="author"><name><surname>Simon</surname>
<given-names>Amos</given-names>
</name>
<xref ref-type="aff" rid="Aff7">7</xref>
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<contrib contrib-type="author"><name><surname>Somech</surname>
<given-names>Raz</given-names>
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<xref ref-type="aff" rid="Aff7">7</xref>
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<contrib contrib-type="author"><name><surname>Roesler</surname>
<given-names>Joachim</given-names>
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<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hoenig</surname>
<given-names>Manfred</given-names>
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<xref ref-type="aff" rid="Aff9">9</xref>
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<contrib contrib-type="author"><name><surname>Keppler</surname>
<given-names>Oliver T.</given-names>
</name>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schwarz</surname>
<given-names>Klaus</given-names>
</name>
<xref ref-type="aff" rid="Aff2">2</xref>
<xref ref-type="aff" rid="Aff11">11</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0003-0956-0445</contrib-id>
<name><surname>Klein</surname>
<given-names>Christoph</given-names>
</name>
<address><email>Christoph.Klein@med.uni-muenchen.de</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<aff id="Aff1"><label>1</label>
Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany</aff>
<aff id="Aff2"><label>2</label>
<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</aff>
<aff id="Aff3"><label>3</label>
<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</aff>
<aff id="Aff4"><label>4</label>
<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</aff>
<aff id="Aff5"><label>5</label>
<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</aff>
<aff id="Aff6"><label>6</label>
<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</aff>
<aff id="Aff7"><label>7</label>
<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</aff>
<aff id="Aff8"><label>8</label>
<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</aff>
<aff id="Aff9"><label>9</label>
Department of Pediatrics, University Medical Centre Ulm, Ulm, Germany</aff>
<aff id="Aff10"><label>10</label>
<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</aff>
<aff id="Aff11"><label>11</label>
<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</aff>
<aff id="Aff12"><label>12</label>
<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</aff>
</contrib-group>
<pub-date pub-type="epub"><day>25</day>
<month>2</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>25</day>
<month>2</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="collection"><year>2020</year>
</pub-date>
<volume>11</volume>
<elocation-id>1031</elocation-id>
<history><date date-type="received"><day>14</day>
<month>1</month>
<year>2019</year>
</date>
<date date-type="accepted"><day>23</day>
<month>1</month>
<year>2020</year>
</date>
</history>
<permissions><copyright-statement>© The Author(s) 2020</copyright-statement>
<license license-type="OpenAccess"><license-p><bold>Open Access</bold>
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>
.</license-p>
</license>
</permissions>
<abstract id="Abs1"><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>
</abstract>
<abstract id="Abs2" abstract-type="web-summary"><p id="Par2">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.</p>
</abstract>
<kwd-group kwd-group-type="npg-subject"><title>Subject terms</title>
<kwd>Endocytosis</kwd>
<kwd>Disease genetics</kwd>
<kwd>T cells</kwd>
<kwd>Primary immunodeficiency disorders</kwd>
</kwd-group>
<funding-group><award-group><funding-source><institution>The studies were supported by the Bundesministerium für Bildung und Forschung (BMBF) (German PID-NET, grants to KS, MH, JR, and CK), the DAAD (Rare disorders of the immune system), the Else-Kröner-Fresenius Stiftung, DFG (Gottfried Wilhelm Leibniz program and SFB914 (to CK), German Research Foundation (DFG LY150/1-1) (to M.Ł), grants KE742/5-1 and KE742/7-1 (to OTK)) and the Care-for-Rare Foundation.</institution>
</funding-source>
</award-group>
</funding-group>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2020</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
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{{Explor lien |wiki= Sante |area= ChloroquineV1 |flux= Pmc |étape= Curation |type= RBID |clé= PMC:7042371 |texte= Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells }}
Pour générer des pages wiki
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