Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
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ABSTRACT:
SUBMITTER: Frega M
PROVIDER: S-EPMC6821803 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Publications
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Frega Monica M Linda Katrin K Keller Jason M JM Gümüş-Akay Güvem G Mossink Britt B van Rhijn Jon-Ruben JR Negwer Moritz M Klein Gunnewiek Teun T Foreman Katharina K Kompier Nine N Schoenmaker Chantal C van den Akker Willem W van der Werf Ilse I Oudakker Astrid A Zhou Huiqing H Kleefstra Tjitske T Schubert Dirk D van Bokhoven Hans H Nadif Kasri Nael N
Nature communications 20191030 1
Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediate ...[more]
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