CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Autor: Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA., Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands., Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland., Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland., Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland., Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy., Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada., Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Rommelaere S; Global Health Institute, School of Life Sciences and., Bocquete JP; Global Health Institute, School of Life Sciences and., Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands., Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands., Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands., Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Soli F; Medical Genetics Department, APSS Trento, Trento, Italy., Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy., Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China., Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland., López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain., Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom., Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom., Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran Mau-Them F; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA., Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada., Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA., Lemaitre B; Global Health Institute, School of Life Sciences and., Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan., Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada., Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland., De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland., Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland., D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and., Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2023 May 15; Vol. 133 (10). Date of Electronic Publication: 2023 May 15.