Concepedia
Statistics
Publications
9
Citations
341
H-Index
Active since
2019
Affiliations
Erasmus MC(Current)
Amsterdam University Medical Centers
University of Amsterdam
Erasmus University Rotterdam
Mater Research
A. Mattijs Punt is an author at Erasmus MC specializing in life sciences, neuroscience, and molecular neuroscience.
Publications per year
2019–2022
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome
Rossella Avagliano Trezza, Monica Sonzogni, Stijn N. V. Bossuyt et al. · Nature Neuroscience · 2019 · 100 citations · Full text
Medicine, Neurobiology, Neuroscience +11
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
Nikhil J. Pandya, Congwei Wang, Veronica Costa et al. · Cell Reports Medicine · 2021 · 67 citations · Full text
Life Sciences, Molecular Biology, Neuroscience +15
Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice
Matthew C. Judson, Charles Shyng, Jeremy M. Simon et al. · JCI Insight · 2021 · 45 citations · Full text
Life Sciences, Molecular Biology, Neuroscience +17
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations
Stijn N. V. Bossuyt, A. Mattijs Punt, Ilona J. de Graaf et al. · Human Molecular Genetics · 2021 · 35 citations · Full text
Life Sciences, Biochemistry, Genetics +17
A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets
Nikhil J. Pandya, Sonja Meier, Stefka Tyanova et al. · Molecular Psychiatry · 2022 · 28 citations · Full text
Life Sciences, Neurobiology, Neuroscience +16
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