Mientjes EJ - Search Results

1

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. Milazzo C, et al. Among authors: mientjes ej. JCI Insight. 2021 Aug 9;6(15):e145991. doi: 10.1172/jci.insight.145991. JCI Insight. 2021. PMID: 34369389 Free PMC article.

2

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y. Silva-Santos S, et al. J Clin Invest. 2015 May;125(5):2069-76. doi: 10.1172/JCI80554. Epub 2015 Apr 13. J Clin Invest. 2015. PMID: 25866966 Free PMC article.

3

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. Omrani A, et al. Mol Psychiatry. 2015 Nov;20(11):1311-21. doi: 10.1038/mp.2015.48. Epub 2015 Apr 28. Mol Psychiatry. 2015. PMID: 25917366 Free PMC article.

4

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. van der Wal L, et al. J Proteomics. 2018 Feb 10;172:49-56. doi: 10.1016/j.jprot.2017.10.014. Epub 2017 Nov 6. J Proteomics. 2018. PMID: 29122726 Free article.

5

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. Proietti Onori M, et al. Hum Mutat. 2018 Dec;39(12):2008-2024. doi: 10.1002/humu.23647. Epub 2018 Sep 19. Hum Mutat. 2018. PMID: 30184290 Free PMC article.

6

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. Avagliano Trezza R, et al. Among authors: mientjes ej. Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24. Nat Neurosci. 2019. PMID: 31235931

7

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

Tonazzini I, Van Woerden GM, Masciullo C, Mientjes EJ, Elgersma Y, Cecchini M. Tonazzini I, et al. Among authors: mientjes ej. Mol Autism. 2019 Nov 29;10:41. doi: 10.1186/s13229-019-0293-1. eCollection 2019. Mol Autism. 2019. PMID: 31798818 Free PMC article.

8

Angelman Syndrome: From Mouse Models to Therapy.

Rotaru DC, Mientjes EJ, Elgersma Y. Rotaru DC, et al. Among authors: mientjes ej. Neuroscience. 2020 Oct 1;445:172-189. doi: 10.1016/j.neuroscience.2020.02.017. Epub 2020 Feb 21. Neuroscience. 2020. PMID: 32088294 Free article. Review.

9

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

Sonzogni M, Zhai P, Mientjes EJ, van Woerden GM, Elgersma Y. Sonzogni M, et al. Among authors: mientjes ej. Mol Autism. 2020 Sep 18;11(1):70. doi: 10.1186/s13229-020-00376-9. Mol Autism. 2020. PMID: 32948244 Free PMC article.

10

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. Avagliano Trezza R, et al. Sci Rep. 2021 Feb 4;11(1):3007. doi: 10.1038/s41598-021-82319-9. Sci Rep. 2021. PMID: 33542309 Free PMC article.

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