Elgersma, Ype

Inhibitory Autophosphorylation of CaMKII Controls PSD Association, Plasticity, and Learning

Elgersma, Y., Fedorov, N. B., Ikonen, S., Choi, E. S., Elgersma, M., Carvalho, O. M., Giese, K. P., & Silva, A. J. (2002) · Neuron

Neuroscience and Neuropharmacology ResearchMemory and Neural Mechanisms

Cited by 290

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation

van Woerden, G. M., Harris, K. D., Hojjati, M. R., Gustin, R. M., Qiu, S., de Avila Freire, R., Jiang, Y.-H., Elgersma, Y., & Weeber, E. J. (2007) · Nature Neuroscience

Genetic Syndromes and ImprintingGenetics and Neurodevelopmental Disorders

Cited by 281

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

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

CaMKII Plays a Nonenzymatic Role in Hippocampal Synaptic Plasticity and Learning by Targeting CaMKII to Synapses

Borgesius, N. Z., van Woerden, G. M., Buitendijk, G. H. S., Keijzer, N., Jaarsma, D., Hoogenraad, C. C., & Elgersma, Y. (2011) · Journal of Neuroscience

Neuroscience and Neuropharmacology ResearchMemory and Neural Mechanisms

Cited by 124

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., et al. (2017) · Nature Communications

Genetics and Neurodevelopmental DisordersPI3K/AKT/mTOR signaling in cancer

Cited by 76

Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome

Rotaru, D. C., van Woerden, G. M., Wallaard, I., & Elgersma, Y. (2018) · The Journal of Neuroscience

Genetics and Neurodevelopmental DisordersGenetic Syndromes and Imprinting

Cited by 74

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

Temporal and Region-Specific Requirements of αCaMKII in Spatial and Contextual Learning

Achterberg, K. G., Buitendijk, G. H. S., Kool, M. J., Goorden, S. M. I., Post, L., Slump, D. E., Silva, A. J., van Woerden, G. M., Kushner, S. A., & Elgersma, Y. (2014) · The Journal of Neuroscience

Memory and Neural MechanismsNeuroscience and Neuropharmacology Research

Cited by 44

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

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 36

Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair-deficient mice

Birkisdóttir, M. B., Jaarsma, D., Brandt, R. M. C., Barnhoorn, S., van Vliet, N., Imholz, S., van Oostrom, C. T., Nagarajah, B., Portilla Fernández, E., Roks, A. J. M., et al. (2021) · Aging Cell

Genetics, Aging, and Longevity in Model OrganismsAutophagy in Disease and Therapy

Cited by 35

Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments

van der Vaart, T., Overwater, I. E., Oostenbrink, R., Moll, H. A., & Elgersma, Y. (2015) · JAMA Neurology

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 17

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

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 6

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 3