A Novel Automated Approach for Improving Standardization of the Marble Burying Test Enables Quantification of Burying Bouts and Activity Characteristics

por Wahl, Lucas, Punt, A. Mattijs, Arbab, Tara, Willuhn, Ingo, Elgersma, Ype, Badura, Aleksandra
Publicado 2022

The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome

por Viho, Eva M. G., Punt, A. Mattijs, Distel, Ben, Houtman, René, Kroon, Jan, Elgersma, Ype, Meijer, Onno C.
Publicado 2022

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

por Bossuyt, Stijn N V, Punt, A Mattijs, de Graaf, Ilona J, van den Burg, Janny, Williams, Mark G, Heussler, Helen, Elgersma, Ype, Distel, Ben
Publicado 2021

A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets

por Pandya, Nikhil J., Meier, Sonja, Tyanova, Stefka, Terrigno, Marco, Wang, Congwei, Punt, A. Mattijs, Mientjes, E. J., Vautheny, Audrey, Distel, Ben, Kremer, Thomas, Elgersma, Ype, Jagasia, Ravi
Publicado 2022

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman...

por Geerts‐Haages, Amber, Bossuyt, Stijn N. V., den Besten, Inge, Bruggenwirth, Hennie, van der Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies
Publicado 2020

Ecosystem-based fisheries management forestalls climate-driven collapse

por Holsman, K. K., Haynie, A. C., Hollowed, A. B., Reum, J. C. P., Aydin, K., Hermann, A. J., Cheng, W., Faig, A., Ianelli, J. N., Kearney, K. A., Punt, A. E.
Publicado 2020

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

por 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
Publicado 2021

Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice

por Judson, Matthew C., Shyng, Charles, Simon, Jeremy M., Davis, Courtney R., Punt, A. Mattijs, Salmon, Mirabel T., Miller, Noah W., Ritola, Kimberly D., Elgersma, Ype, Amaral, David G., Gray, Steven J., Philpot, Benjamin D.
Publicado 2021

Molecular and behavioral consequences of Ube3a gene overdosage in mice

por Punt, A. Mattijs, Judson, Matthew C., Sidorov, Michael S., Williams, Brittany N., Johnson, Naomi S., Belder, Sabine, den Hertog, Dion, Davis, Courtney R., Feygin, Maximillian S., Lang, Patrick F., Jolfaei, Mehrnoush Aghadavoud, Curran, Patrick J., van IJcken, Wilfred F.J., Elgersma, Ype, Philpot, Benjamin D.
Publicado 2022

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

por 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
Publicado 2021

Next generation physiologically based kinetic (NG-PBK) models in support of regulatory decision making

por Paini, A., Leonard, J.A., Joossens, E., Bessems, J.G.M., Desalegn, A., Dorne, J.L., Gosling, J.P., Heringa, M.B., Klaric, M., Kliment, T., Kramer, N.I., Loizou, G., Louisse, J., Lumen, A., Madden, J.C., Patterson, E.A., Proença, S., Punt, A., Setzer, R.W., Suciu, N., Troutman, J., Yoon, M., Worth, A., Tan, Y.M.
Publicado 2019