Edwin  Mientjes

contact

  • e.mientjes@erasmusmc.nl
  • +31 010 70 43565
  • Room: Ee-1491
  • Dr. Molewaterplein 40, Faculty Building, Rotterdam, The Netherlands

Dr. Edwin Mientjes (E.)

Publications

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

2. Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model.

Milazzo C, Mientjes EJ, Wallaard I, Rasmussen SV, Erichsen KD, Kakunuri T, van der Sman ASE, Kremer T, Miller MT, Hoener MC, Elgersma Y
in JCI insight 2021

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

4. Angelman Syndrome: From Mouse Models to Therapy.

5. Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.

6. The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

Tonazzini I, Van Woerden GM, Mientjes EJ, Elgersma Y, Cecchini M
in Mol Autism 2019

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

in Nature neuroscience 2019

8. Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA
in Molecular psychiatry 2018

9. The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Küry S, Elgersma Y, van Woerden GM
in Hum Mutat 2018

10. Improvement of ubiquitylation site detection by Orbitrap mass spectrometry

van der Wal L, Bezstarosti K, Sap KA, Dekkers DHW, Rijkers E, Mientjes E, Elgersma Y, Demmers JAA
in J Proteomics 2018
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