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 Portfolio
2019
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oai:doaj.org-article:1b9e1a31b828482da3a44f889f6271672021-12-02T15:35:56ZNeuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling10.1038/s41467-019-12947-32041-1723https://doaj.org/article/1b9e1a31b828482da3a44f889f6271672019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12947-3https://doaj.org/toc/2041-1723Kleefstra 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.Monica FregaKatrin LindaJason M. KellerGüvem Gümüş-AkayBritt MossinkJon-Ruben van RhijnMoritz NegwerTeun Klein GunnewiekKatharina ForemanNine KompierChantal SchoenmakerWillem van den AkkerIlse van der WerfAstrid OudakkerHuiqing ZhouTjitske KleefstraDirk SchubertHans van BokhovenNael Nadif KasriNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019) |
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DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q 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 |
| 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. |
| format |
article |
| 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 |
| 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 Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/1b9e1a31b828482da3a44f889f627167 |
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