Nature Communications (Oct 2019)
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
- 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
Affiliations
- Monica Frega
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Katrin Linda
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Jason M. Keller
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Güvem Gümüş-Akay
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Britt Mossink
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Jon-Ruben van Rhijn
- Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour
- Moritz Negwer
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Teun Klein Gunnewiek
- Department of Anatomy, Radboudumc, Donders Institute for Brain, Cognition and Behaviour
- Katharina Foreman
- Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour
- Nine Kompier
- Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour
- Chantal Schoenmaker
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Willem van den Akker
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Ilse van der Werf
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Astrid Oudakker
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Huiqing Zhou
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Tjitske Kleefstra
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Dirk Schubert
- Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour
- Hans van Bokhoven
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- Nael Nadif Kasri
- Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour
- DOI
- https://doi.org/10.1038/s41467-019-12947-3
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 15
Abstract
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.
