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. Angelman Syndrome: From Mouse Models to Therapy.

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

4. 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

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

in Nature neuroscience 2019

6. 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

7. 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

8. 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

9. HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.

Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, Gutmann DH, Levelt CN, Smit AB, Silva AJ, Kushner SA, Elgersma Y
in Molecular psychiatry 2015

10. The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.

Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF
in Cell cycle (Georgetown, Tex.) 2015
show more publications