Ilona de Graaf

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Ilona de Graaf (I)

  • Position: Research Assistant, Erasmus Medical University Center

Publications

1. 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
DOI: 10.1093/hmg/ddab050

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
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