Isabella Zampeta

contact

  • f.zampeta@erasmusmc.nl
  • +31 010 70 43166
  • Room: Ee-1493
  • Dr. Molewaterplein 40, Faculty Building, Rotterdam, The Netherlands

Isabella Zampeta (F.I.)

Publications

1. From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.

Zampeta FI, Distel B, Elgersma Y, Iping R
in Human genetics 2022
DOI: 10.1007/s00439-022-02460-x

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

Avagliano Trezza R, Punt AM, Mientjes E, van den Berg M, Zampeta FI, de Graaf IJ, van der Weegen Y, Demmers JAA, Elgersma Y, Distel B
in Scientific reports 2021
DOI: 10.1038/s41598-021-82319-9

3. 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
DOI: 10.1016/j.xcrm.2021.100360

4. Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

Zampeta IF, Sonzogni M, Niggl E, Lendemeijer B, Smeenk H, de Vrij FMS, Kushner SA, Distel B, Elgersma Y
in Human molecular genetics 2020
DOI: 10.1093/hmg/ddaa194

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

Avagliano Trezza R, Sonzogni M, Bossuyt SNV, Zampeta FI, Punt AM, van den Berg M, Rotaru DC, Koene LMC, Munshi ST, Stedehouder J, Kros JM, Williams M, Heussler H, de Vrij FMS, Mientjes EJ, van Woerden GM, Kushner SA, Distel B, Elgersma Y
in Nature neuroscience 2019
DOI: 10.1038/s41593-019-0425-0
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