Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.

Frega, Monica; Linda, Katrin; Keller, Jason M; Gümüs-Akay, Güvem; Mossink, Britt; van Rhijn, Jon-Ruben; Negwer, Moritz; Klein Gunnewiek, Teun; Foreman, Katharina; Kompier, Nine; Schoenmaker, Chantal; van den Akker, Willem; van der Werf, Ilse; Oudakker, Astrid; Zhou, Huiqing; Kleefstra, Tjitske; Schubert, Dirk; van Bokhoven, Hans; Nadif Kasri, Nael

Frega, Monica; Linda, Katrin; Keller, Jason M; Gümüs-Akay, Güvem; Mossink, Britt; van Rhijn, Jon-Ruben; Negwer, Moritz; Klein Gunnewiek, Teun; Foreman, Katharina; Kompier, Nine; Schoenmaker, Chantal; van den Akker, Willem; van der Werf, Ilse; Oudakker, Astrid; Zhou, Huiqing; Kleefstra, Tjitske; Schubert, Dirk; van Bokhoven, Hans; Nadif Kasri, Nael.

Afiliação

Frega M; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Linda K; Department of Clinical neurophysiology, University of Twente, 7522, NB Enschede, Netherlands.
Keller JM; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Gümüs-Akay G; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Mossink B; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
van Rhijn JR; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Negwer M; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500, HB Nijmegen, Netherlands.
Klein Gunnewiek T; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Foreman K; Department of Anatomy, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500, HB Nijmegen, Netherlands.
Kompier N; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500, HB Nijmegen, Netherlands.
Schoenmaker C; Department of Cognitive Neuroscience, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, 6500, HB Nijmegen, Netherlands.
van den Akker W; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
van der Werf I; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Oudakker A; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Zhou H; Laboratory of Nanotechnology for Precision Medicine, Italian Institute of Technology, Genova, Italy.
Kleefstra T; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
Schubert D; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.
van Bokhoven H; Department of Molecular Developmental Biology, Faculty of Science, Radboud Institute for Molecular Life Sciences, Radboud University, 6500, HB Nijmegen, Netherlands.
Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, 6500, HB Nijmegen, Netherlands.

Nat Commun ; 10(1): 4928, 2019 10 30.

Article em En | MEDLINE | ID: mdl-31666522

Assuntos

Anormalidades Craniofaciais/genética; Cardiopatias Congênitas/genética; Histona-Lisina N-Metiltransferase/genética; Deficiência Intelectual/genética; Proteínas do Tecido Nervoso/genética; Neurônios/metabolismo; Receptores de N-Metil-D-Aspartato/genética; Animais; Córtex Cerebral/citologia; Deleção Cromossômica; Cromossomos Humanos Par 9/genética; Cromossomos Humanos Par 9/metabolismo; Anormalidades Craniofaciais/metabolismo; Modelos Animais de Doenças; Maleato de Dizocilpina/farmacologia; Antagonistas de Aminoácidos Excitatórios/farmacologia; Feminino; Cardiopatias Congênitas/metabolismo; Histona-Lisina N-Metiltransferase/metabolismo; Humanos; Células-Tronco Pluripotentes Induzidas; Deficiência Intelectual/metabolismo; Mutação com Perda de Função; Masculino; Camundongos; Proteínas do Tecido Nervoso/antagonistas & inibidores; Proteínas do Tecido Nervoso/metabolismo; Neurônios/efeitos dos fármacos; Cultura Primária de Células; Receptores de AMPA/metabolismo; Receptores de N-Metil-D-Aspartato/antagonistas & inibidores; Receptores de N-Metil-D-Aspartato/metabolismo; Regulação para Cima

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Receptores de N-Metil-D-Aspartato / Anormalidades Craniofaciais / Cardiopatias Congênitas / Deficiência Intelectual / Proteínas do Tecido Nervoso / Neurônios Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Commun Ano de publicação: 2019 Tipo de documento: Article

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