Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
Identifieur interne : 000143 ( an2020/Analysis ); 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
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000154
- to stream Pmc, to step Curation: 000154
- to stream Pmc, to step Checkpoint: 000134
- to stream Ncbi, to step Merge: 000F62
- to stream Ncbi, to step Curation: 000F62
- to stream Ncbi, to step Checkpoint: 000F62
- to stream Main, to step Merge: 000143
- to stream Main, to step Curation: 000143
- to stream Main, to step Exploration: 000143
- to stream an2020, to step Extraction: 000143
Links to Exploration step
PMC:7042371Le document en format XML
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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></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">32098969</idno><idno type="pmc">7042371</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042371</idno><idno type="RBID">PMC:7042371</idno><idno type="doi">10.1038/s41467-020-14809-9</idno><date when="2020">2020</date><idno type="wicri:Area/Pmc/Corpus">000154</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000154</idno><idno type="wicri:Area/Pmc/Curation">000154</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000154</idno><idno type="wicri:Area/Pmc/Checkpoint">000134</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000134</idno><idno type="wicri:Area/Ncbi/Merge">000F62</idno><idno type="wicri:Area/Ncbi/Curation">000F62</idno><idno type="wicri:Area/Ncbi/Checkpoint">000F62</idno><idno type="wicri:Area/Main/Merge">000143</idno><idno type="wicri:Area/Main/Curation">000143</idno><idno type="wicri:Area/Main/Exploration">000143</idno><idno type="wicri:Area/an2020/Extraction">000143</idno></publicationStmt><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><profileDesc><textClass></textClass></profileDesc></teiHeader><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></biblStruct><biblStruct><analytic><author><name sortKey="Pearse, B" uniqKey="Pearse B">B Pearse</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Robinson, Ms" uniqKey="Robinson M">MS Robinson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cocucci, E" uniqKey="Cocucci E">E Cocucci</name></author><author><name sortKey="Aguet, F" uniqKey="Aguet F">F Aguet</name></author><author><name sortKey="Boulant, S" uniqKey="Boulant S">S Boulant</name></author><author><name sortKey="Kirchhausen, T" uniqKey="Kirchhausen T">T 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uniqKey="Hoenig M" first="Manfred" last="Hoenig">Manfred Hoenig</name><name sortKey="Hollizeck, Sebastian" sort="Hollizeck, Sebastian" uniqKey="Hollizeck S" first="Sebastian" last="Hollizeck">Sebastian Hollizeck</name><name sortKey="Karasu, Ebru" sort="Karasu, Ebru" uniqKey="Karasu E" first="Ebru" last="Karasu">Ebru Karasu</name><name sortKey="Kellerer, Christina" sort="Kellerer, Christina" uniqKey="Kellerer C" first="Christina" last="Kellerer">Christina Kellerer</name><name sortKey="Keppler, Oliver T" sort="Keppler, Oliver T" uniqKey="Keppler O" first="Oliver T." last="Keppler">Oliver T. Keppler</name><name sortKey="Keppler, Oliver T" sort="Keppler, Oliver T" uniqKey="Keppler O" first="Oliver T." last="Keppler">Oliver T. Keppler</name><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><name sortKey="Liu, Yanshan" sort="Liu, Yanshan" uniqKey="Liu Y" first="Yanshan" last="Liu">Yanshan Liu</name><name sortKey="Lyszkiewicz, Marcin" sort="Lyszkiewicz, Marcin" uniqKey="Lyszkiewicz M" first="Marcin" last="Łyszkiewicz">Marcin Łyszkiewicz</name><name sortKey="Pannicke, Ulrich" sort="Pannicke, Ulrich" uniqKey="Pannicke U" first="Ulrich" last="Pannicke">Ulrich Pannicke</name><name sortKey="Puchalka, Jacek" sort="Puchalka, Jacek" uniqKey="Puchalka J" first="Jacek" last="Puchałka">Jacek Puchałka</name><name sortKey="Roesler, Joachim" sort="Roesler, Joachim" uniqKey="Roesler J" first="Joachim" last="Roesler">Joachim Roesler</name><name sortKey="Rohlfs, Meino" sort="Rohlfs, Meino" uniqKey="Rohlfs M" first="Meino" last="Rohlfs">Meino Rohlfs</name><name sortKey="Schwarz, Klaus" sort="Schwarz, Klaus" uniqKey="Schwarz K" first="Klaus" last="Schwarz">Klaus Schwarz</name><name sortKey="Schwarz, Klaus" sort="Schwarz, Klaus" uniqKey="Schwarz K" first="Klaus" last="Schwarz">Klaus Schwarz</name><name sortKey="Somekh, Ido" sort="Somekh, Ido" uniqKey="Somekh I" first="Ido" last="Somekh">Ido Somekh</name><name sortKey="Stern, Marcel" sort="Stern, Marcel" uniqKey="Stern M" first="Marcel" last="Stern">Marcel Stern</name><name sortKey="Sykora, Karl Walter" sort="Sykora, Karl Walter" uniqKey="Sykora K" first="Karl-Walter" last="Sykora">Karl-Walter Sykora</name><name sortKey="Zi Tara, Natalia" sort="Zi Tara, Natalia" uniqKey="Zi Tara N" first="Natalia" last="Zi Tara">Natalia Zi Tara</name><name sortKey="Zi Tara, Natalia" sort="Zi Tara, Natalia" uniqKey="Zi Tara N" first="Natalia" last="Zi Tara">Natalia Zi Tara</name></country><country name="Turquie"><noRegion><name sortKey="Yilmaz, Tu Ba" sort="Yilmaz, Tu Ba" uniqKey="Yilmaz T" first="Tu Ba" last="Yilmaz">Tu Ba Yilmaz</name></noRegion><name sortKey="Karakukcu, Musa" sort="Karakukcu, Musa" uniqKey="Karakukcu M" first="Musa" last="Karakukcu">Musa Karakukcu</name><name sortKey="Patiro Lu, Turkan" sort="Patiro Lu, Turkan" uniqKey="Patiro Lu T" first="Türkan" last="Patiro Lu">Türkan Patiro Lu</name><name sortKey="Patiro Lu, Turkan" sort="Patiro Lu, Turkan" uniqKey="Patiro Lu T" first="Türkan" last="Patiro Lu">Türkan Patiro Lu</name><name sortKey="Unal, Ekrem" sort="Unal, Ekrem" uniqKey="Unal E" first="Ekrem" last="Ünal">Ekrem Ünal</name></country><country name="Israël"><noRegion><name sortKey="Lev, Atar" sort="Lev, Atar" uniqKey="Lev A" first="Atar" last="Lev">Atar Lev</name></noRegion><name sortKey="Simon, Amos" sort="Simon, Amos" uniqKey="Simon A" first="Amos" last="Simon">Amos Simon</name><name sortKey="Somech, Raz" sort="Somech, Raz" uniqKey="Somech R" first="Raz" last="Somech">Raz Somech</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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