Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Kleefstra syndrome is a neurodevelopmental disorder associated with hapoinsufficiency of the histone methyltransferase EHMT1. Here the authors show using induced pluripotent cells-derived neurons from patients that network dysfunction occurs and is due to dysfunction of the NMDA receptor.
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Nature Publishing Group
2019-10-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-12947-3 |
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doaj-1b9e1a31b828482da3a44f889f6271672021-05-11T12:07:31ZengNature Publishing GroupNature Communications2041-17232019-10-0110111510.1038/s41467-019-12947-3Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signalingMonica Frega0Katrin Linda1Jason M. Keller2Güvem Gümüş-Akay3Britt Mossink4Jon-Ruben van Rhijn5Moritz Negwer6Teun Klein Gunnewiek7Katharina Foreman8Nine Kompier9Chantal Schoenmaker10Willem van den Akker11Ilse van der Werf12Astrid Oudakker13Huiqing Zhou14Tjitske Kleefstra15Dirk Schubert16Hans van Bokhoven17Nael Nadif Kasri18Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Anatomy, Radboudumc, Donders Institute for Brain, Cognition and BehaviourDepartment of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and BehaviourDepartment of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and BehaviourKleefstra syndrome is a neurodevelopmental disorder associated with hapoinsufficiency of the histone methyltransferase EHMT1. Here the authors show using induced pluripotent cells-derived neurons from patients that network dysfunction occurs and is due to dysfunction of the NMDA receptor.https://doi.org/10.1038/s41467-019-12947-3 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Monica Frega Katrin Linda Jason M. Keller Güvem Gümüş-Akay Britt Mossink Jon-Ruben van Rhijn Moritz Negwer Teun Klein Gunnewiek Katharina Foreman Nine Kompier Chantal Schoenmaker Willem van den Akker Ilse van der Werf Astrid Oudakker Huiqing Zhou Tjitske Kleefstra Dirk Schubert Hans van Bokhoven Nael Nadif Kasri |
| spellingShingle |
Monica Frega Katrin Linda Jason M. Keller Güvem Gümüş-Akay Britt Mossink Jon-Ruben van Rhijn Moritz Negwer Teun Klein Gunnewiek Katharina Foreman Nine Kompier Chantal Schoenmaker Willem van den Akker Ilse van der Werf Astrid Oudakker Huiqing Zhou Tjitske Kleefstra Dirk Schubert Hans van Bokhoven Nael Nadif Kasri Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling Nature Communications |
| author_facet |
Monica Frega Katrin Linda Jason M. Keller Güvem Gümüş-Akay Britt Mossink Jon-Ruben van Rhijn Moritz Negwer Teun Klein Gunnewiek Katharina Foreman Nine Kompier Chantal Schoenmaker Willem van den Akker Ilse van der Werf Astrid Oudakker Huiqing Zhou Tjitske Kleefstra Dirk Schubert Hans van Bokhoven Nael Nadif Kasri |
| author_sort |
Monica Frega |
| title |
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling |
| title_short |
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling |
| title_full |
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling |
| title_fullStr |
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling |
| title_full_unstemmed |
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling |
| title_sort |
neuronal network dysfunction in a model for kleefstra syndrome mediated by enhanced nmdar signaling |
| publisher |
Nature Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2019-10-01 |
| description |
Kleefstra syndrome is a neurodevelopmental disorder associated with hapoinsufficiency of the histone methyltransferase EHMT1. Here the authors show using induced pluripotent cells-derived neurons from patients that network dysfunction occurs and is due to dysfunction of the NMDA receptor. |
| url |
https://doi.org/10.1038/s41467-019-12947-3 |
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