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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.

Autor: Duclaux-Loras R; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France., Lebreton C; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France., Berthelet J; Université Paris Cité, CEDC, UMR 7216, CNRS, Paris, France., Charbit-Henrion F; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France., Nicolle O; Université de Rennes, CNRS, Institut de Génétique et Développement de Rennes (IGDR)-UMR 6290, Rennes, France., Revenu des Courtils C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, Paris, France., Waich S; Universitätsklinik für Pädiatrie I and.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Valovka T; Universitätsklinik für Pädiatrie I and.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Khiat A; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France., Rabant M; Department of Pathology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, Paris, France., Racine C; 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 UMR 1231, Dijon, France., Guerrera IC; Proteomics Platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, United Kingdom.; Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Mahe MM; Université de Nantes, INSERM, TENS, The Enteric Nervous System in Gut and Brain Diseases, IMAD, Nantes, France., Hess MW; Institut für Histologie und Embryologie Medical University of Innsbruck, Innsbruck, Austria., Durel B; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Université Paris Cité, Paris, France., Lefort N; iPS Core Facility, Imagine Institute, INSERM U1163, Paris Descartes University, Paris, France., Banal C; iPS Core Facility, Imagine Institute, INSERM U1163, Paris Descartes University, Paris, France., Parisot M; 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., Talbotec C; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France., Lacaille F; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France., Ecochard-Dugelay E; Hopital Robert Debré, Assistance Publique Hôpitaux de Paris, Paris, France., Demir AM; Ankara Child Health and Diseases, Training and Research Hospital, Pediatric Gastroenterology, Ankara, Turkey., Vogel GF; Universitätsklinik für Pädiatrie I and.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Faivre L; Department of Pathology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, Paris, France., Rodrigues A; John Radcliffe Hospital, Oxford, United Kingdom., Fowler D; John Radcliffe Hospital, Oxford, United Kingdom., Janecke AR; Universitätsklinik für Pädiatrie I and., Müller T; Universitätsklinik für Pädiatrie I and., Huber LA; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., Rodrigues-Lima F; Université Paris Cité, BFA, UMR 8251, CNRS, Paris, France., Ruemmele FM; Department of Pediatric Gastroenterology, Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, F-75015, Paris, France., Uhlig HH; Translational Gastroenterology Unit and Department of Paediatrics, John Radcliffe Hospital, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, United Kingdom., Del Bene F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, Paris, France., Michaux G; Université de Rennes, CNRS, Institut de Génétique et Développement de Rennes (IGDR)-UMR 6290, Rennes, France., Cerf-Bensussan N; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France., Parlato M; Université Paris Cité, Imagine Institute, Laboratory of Intestinal Immunity, INSERM, UMR1163, Paris, France.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2022 May 16; Vol. 132 (10).