Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

por Sonzogni, Monica, Zhai, Peipei, Mientjes, Edwin J., van Woerden, Geeske M., Elgersma, Ype
Publicado 2020

The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

por Tonazzini, Ilaria, Van Woerden, Geeske M., Masciullo, Cecilia, Mientjes, Edwin J., Elgersma, Ype, Cecchini, Marco
Publicado 2019

The Acute Myeloid Leukemia-Associated Protein, Dek, Forms a Splicing-Dependent Interaction with Exon-Product Complexes

por McGarvey, Tim, Rosonina, Emanuel, McCracken, Susan, Li, Qiyu, Arnaout, Ramy, Mientjes, Edwin, Nickerson, Jeffrey A., Awrey, Don, Greenblatt, Jack, Grosveld, Gerard, Blencowe, Benjamin J.
Publicado 2000

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

por Milazzo, Claudia, Mientjes, Edwin J., Wallaard, Ilse, Rasmussen, Søren Vestergaard, Erichsen, Kamille Dumong, Kakunuri, Tejaswini, van der Sman, A.S. Elise, Kremer, Thomas, Miller, Meghan T., Hoener, Marius C., Elgersma, Ype
Publicado 2021

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

DAZL Limits Pluripotency, Differentiation, and Apoptosis in Developing Primordial Germ Cells

por Chen, Hsu-Hsin, Welling, Maaike, Bloch, Donald B., Muñoz, Javier, Mientjes, Edwin, Chen, Xinjie, Tramp, Cody, Wu, Jie, Yabuuchi, Akiko, Chou, Yu-Fen, Buecker, Christa, Krainer, Adrian, Willemsen, Rob, Heck, Albert J., Geijsen, Niels
Publicado 2014

The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function

por Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.
Publicado 2018

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

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

por de Vrij, Femke M., Bouwkamp, Christian G., Gunhanlar, Nilhan, Shpak, Guy, Lendemeijer, Bas, Baghdadi, Maarouf, Gopalakrishna, Shreekara, Ghazvini, Mehrnaz, Li, Tracy M., Quadri, Marialuisa, Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Mientjes, Edwin, de Wit, Ton, Verheijen, Frans W., Beverloo, H. Berna, Cohen, Dan, Kok, Rob M., Bakker, P. Roberto, Nijburg, Aviva, Spijker, Annet T., Haffmans, P. M. Judith, Hoencamp, Erik, Bergink, Veerle, Vorstman, Jacob A., Wu, Timothy, Olde Loohuis, Loes M., Amin, Najaf, Langen, Carolyn D., Hofman, Albert, Hoogendijk, Witte J., van Duijn, Cornelia M., Ikram, M. Arfan, Vernooij, Meike W., Tiemeier, Henning, Uitterlinden, André G., Elgersma, Ype, Distel, Ben, Gribnau, Joost, White, Tonya, Bonifati, Vincenzo, Kushner, Steven A.
Publicado 2018