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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras, Rémi; Lebreton, Corinne; Berthelet, Jérémy; Charbit-Henrion, Fabienne; Nicolle, Ophelie; Revenu des Courtils, Céline; Waich, Stephanie; Valovka, Taras; Khiat, Anis; Rabant, Marion; Racine, Caroline; Guerrera, Ida Chiara; Baptista, Júlia; Mahe, Maxime M; Hess, Michael W; Durel, Béatrice; Lefort, Nathalie; Banal, Céline; Parisot, Mélanie; Talbotec, Cecile; Lacaille, Florence; Ecochard-Dugelay, Emmanuelle; Demir, Arzu Meltem; Vogel, Georg F; Faivre, Laurence; Rodrigues, Astor; Fowler, Darren; Janecke, Andreas R; Müller, Thomas; Huber, Lukas A; Rodrigues-Lima, Fernando; Ruemmele, Frank M; Uhlig, Holm H; Del Bene, Filippo; Michaux, Grégoire; Cerf-Bensussan, Nadine; Parlato, Marianna.
Afiliación
  • Duclaux-Loras R; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.
  • Lebreton C; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France.
  • Berthelet J; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.
  • Charbit-Henrion F; Université Paris Cité, CEDC, UMR 7216, CNRS, Paris, France.
  • Nicolle O; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.
  • Revenu des Courtils C; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France.
  • Waich S; Université de Rennes, CNRS, Institut de Génétique et Développement de Rennes (IGDR)-UMR 6290, Rennes, France.
  • Valovka T; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
  • Khiat A; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, Paris, France.
  • Rabant M; Universitätsklinik für Pädiatrie I and.
  • Racine C; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.
  • Guerrera IC; Universitätsklinik für Pädiatrie I and.
  • Baptista J; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.
  • Mahe MM; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.
  • Hess MW; Department of Pathology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, Paris, France.
  • Durel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire, and Equipe GAD, Université de Bourgogne Franche-Comté, Faculté de Médecine, INSERM LNC UM
  • Lefort N; Proteomics Platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.
  • Banal C; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, United Kingdom.
  • Parisot M; Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Talbotec C; Université de Nantes, INSERM, TENS, The Enteric Nervous System in Gut and Brain Diseases, IMAD, Nantes, France.
  • Lacaille F; Institut für Histologie und Embryologie Medical University of Innsbruck, Innsbruck, Austria.
  • Ecochard-Dugelay E; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Université Paris Cité, Paris, France.
  • Demir AM; iPS Core Facility, Imagine Institute, INSERM U1163, Paris Descartes University, Paris, France.
  • Vogel GF; iPS Core Facility, Imagine Institute, INSERM U1163, Paris Descartes University, Paris, France.
  • Faivre L; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UMS3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.
  • Rodrigues A; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France.
  • Fowler D; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France.
  • Janecke AR; Hopital Robert Debré, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Müller T; Ankara Child Health and Diseases, Training and Research Hospital, Pediatric Gastroenterology, Ankara, Turkey.
  • Huber LA; Universitätsklinik für Pädiatrie I and.
  • Rodrigues-Lima F; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.
  • Ruemmele FM; Department of Pathology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, Paris, France.
  • Uhlig HH; John Radcliffe Hospital, Oxford, United Kingdom.
  • Del Bene F; John Radcliffe Hospital, Oxford, United Kingdom.
  • Michaux G; Universitätsklinik für Pädiatrie I and.
  • Cerf-Bensussan N; Universitätsklinik für Pädiatrie I and.
  • Parlato M; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria.
J Clin Invest ; 132(10)2022 05 16.
Article en En | MEDLINE | ID: mdl-35575086
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miosina Tipo V / Diarrea Infantil / Síndromes de Malabsorción / Mucolipidosis Tipo de estudio: Etiology_studies Límite: Animals / Humans / Infant Idioma: En Revista: J Clin Invest Año: 2022 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miosina Tipo V / Diarrea Infantil / Síndromes de Malabsorción / Mucolipidosis Tipo de estudio: Etiology_studies Límite: Animals / Humans / Infant Idioma: En Revista: J Clin Invest Año: 2022 Tipo del documento: Article País de afiliación: Francia