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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Smigiel, Robert; López-González, Vanesa; Armengol, Lluís.
Afiliação
  • 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.
  • Capolupo L; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.
  • Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
  • Adeyemi AM; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
  • Gerkes EH; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.
  • Stegmann AP; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.
  • López-Martín E; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands.
  • 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 Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.
  • Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Popp B; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Strehlow V; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Gräfe D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Knerr I; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany.
  • Jones ER; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Zamuner S; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany.
  • Abriata LA; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.
  • Kunnathully V; UCD School of Medicine, Dublin, Ireland.
  • Moeller BE; Genuity Science, Cherrywood Business Park, Dublin, Ireland.
  • Vocat A; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland.
  • Rommelaere S; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland.
  • Bocquete JP; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.
  • Ruchti E; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.
  • Limoni G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.
  • Van Campenhoudt M; Global Health Institute, School of Life Sciences and.
  • Bourgeat S; Global Health Institute, School of Life Sciences and.
  • Henklein P; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.
  • Gilissen C; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.
  • van Bon BW; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.
  • Pfundt R; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.
  • Willemsen MH; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Schieving JH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.
  • Leonardi E; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.
  • Soli F; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.
  • Murgia A; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.
  • Guo H; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.
  • Zhang Q; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.
  • Xia K; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands.
  • Fagerberg CR; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.
  • Beier CP; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
  • Larsen MJ; Medical Genetics Department, APSS Trento, Trento, Italy.
  • Valenzuela I; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.
  • Fernández-Álvarez P; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Xiong S; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Smigiel R; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • López-González V; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Armengol L; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
J Clin Invest ; 133(10)2023 05 15.
Article em En | MEDLINE | ID: mdl-36976648
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Ceramidas Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Esfingolipídeos / Ceramidas Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article