Ype Elgersma
0000-0002-3758-1297
Erasmus MC
9 papers found
Refreshing results…
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome
A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets
Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function
Unlike dietary restriction, rapamycin fails to extend lifespan and reduce transcription stress in progeroid DNA repair‐deficient mice
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome
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