Mientjes, Edwin

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

Silva-Santos, S., van Woerden, G. M., Bruinsma, C. F., Mientjes, E., Jolfaei, M. A., Distel, B., Kushner, S. A., & Elgersma, Y. (2015) · Journal of Clinical Investigation

Genetic Syndromes and ImprintingGenetics and Neurodevelopmental Disorders

Cited by 238

Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice

Pilpel, Y., Kolleker, A., Berberich, S., Ginger, M., Frick, A., Mientjes, E., Oostra, B. A., & Seeburg, P. H. (2009) · The Journal of Physiology

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 102

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

Pandya, N. J., Wang, C., Costa, V., Lopatta, P., Meier, S., Zampeta, F. I., Punt, A. M., Mientjes, E., Grossen, P., Distler, T., et al. (2021) · Cell Reports Medicine

Genetics and Neurodevelopmental DisordersGenetic Syndromes and Imprinting

Cited by 71

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

Proietti Onori, M., Koopal, B., Everman, D. B., Worthington, J. D., Jones, J. R., Ploeg, M. A., Mientjes, E., van Bon, B. W., Kleefstra, T., Schulman, H., et al. (2018) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 39

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

Avagliano Trezza, R., Punt, A. M., Mientjes, E., van den Berg, M., Zampeta, F. I., de Graaf, I. J., van der Weegen, Y., Demmers, J. A. A., Elgersma, Y., & Distel, B. (2021) · Scientific Reports

Ubiquitin and proteasome pathwaysCellular transport and secretion

Cited by 16