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Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

Autor: Avagliano Trezza R; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Sonzogni M; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bossuyt SNV; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Zampeta FI; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Punt AM; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van den Berg M; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Rotaru DC; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Koene LMC; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Munshi ST; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Stedehouder J; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kros JM; Department of Pathology, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Williams M; Mater Research Institute, Faculty of Medicine, The University of Queensland, South Brisbane, Queensland, Australia., Heussler H; Mater Research Institute, Faculty of Medicine, The University of Queensland, South Brisbane, Queensland, Australia.; Child Development Program, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; Child Health Research Centre, The University of Queensland, South Brisbane, Queensland, Australia., de Vrij FMS; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Mientjes EJ; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., van Woerden GM; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Kushner SA; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Psychiatry, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Distel B; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. b.distel@amsterdamumc.nl.; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands. b.distel@amsterdamumc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. b.distel@amsterdamumc.nl., Elgersma Y; Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, The Netherlands. y.elgersma@erasmusmc.nl.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands. y.elgersma@erasmusmc.nl.

Publikováno v: Nature neuroscience [Nat Neurosci] 2019 Aug; Vol. 22 (8), pp. 1235-1247. Date of Electronic Publication: 2019 Jun 24.