Mattijs  Punt

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Mattijs Punt (A.M.)

Publications

1. A novel automated approach for improving standardization of the marble burying test enables quantification of burying bouts and activity characteristics

Lucas Wahl, A. Mattijs Punt, Tara Arbab, Ingo Willuhn, Ype Elgersma, Aleksandra Badura
in eNeuro 2022

2. A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.

Pandya NJ, Meier S, Tyanova S, Terrigno M, Wang C, Punt AM, Mientjes EJ, Vautheny A, Distel B, Kremer T, Elgersma Y, Jagasia R
in Molecular psychiatry 2022

3. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Bossuyt SNV, Punt AM, de Graaf IJ, van den Burg J, Williams MG, Heussler H, Elgersma Y, Distel B
in Human molecular genetics 2021

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

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

Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martí Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R
in Cell reports. Medicine 2021

6. Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.

Judson MC, Shyng C, Simon JM, Davis CR, Punt AM, Salmon MT, Miller NW, Ritola KD, Elgersma Y, Amaral DG, Gray SJ, Philpot BD
in JCI insight 2021

7. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.

Geerts-Haages A, Bossuyt SNV, den Besten I, Bruggenwirth H, van der Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M
in Molecular genetics & genomic medicine 2020

8. Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.

in Nature neuroscience 2019
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