Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

Autor: Pandya, Nikhil J., Wang, Congwei, Costa, Veronica, Lopatta, Paul, Meier, Sonja, Zampeta, F. Isabella, Punt, A. Mattijs, Mientjes, Edwin, Grossen, Philip, Distler, Tania, Tzouros, Manuel, Martí, Yasmina, Banfai, Balazs, Patsch, Christoph, Rasmussen, Soren, Hoener, Marius, Berrera, Marco, Kremer, Thomas, Dunkley, Tom, Ebeling, Martin, Distel, Ben, Elgersma, Ype, Jagasia, Ravi

Publikováno v: In Cell Reports Medicine 17 August 2021 2(8)

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Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.

Autor: Avagliano Trezza, Rossella, Punt, A. Mattijs, Mientjes, Edwin, van den Berg, Marlene, Zampeta, F. Isabella, de Graaf, Ilona J., van der Weegen, Yana, Demmers, Jeroen A. A., Elgersma, Ype, Distel, Ben

Publikováno v: Scientific Reports; 2/4/2021, Vol. 11 Issue 1, p1-14, 14p

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.