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Items: 16


Angelman Syndrome: From Mouse Models to Therapy.

Rotaru DC, Mientjes EJ, Elgersma Y.

Neuroscience. 2020 Feb 21. pii: S0306-4522(20)30103-2. doi: 10.1016/j.neuroscience.2020.02.017. [Epub ahead of print] Review.


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.

Mol Autism. 2019 Nov 29;10:41. doi: 10.1186/s13229-019-0293-1. eCollection 2019.


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.

Nat Neurosci. 2019 Aug;22(8):1235-1247. doi: 10.1038/s41593-019-0425-0. Epub 2019 Jun 24.


A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

Punzo F, Mientjes EJ, Rohe CF, Scianguetta S, Amendola G, Oostra BA, Bertoli-Avella AM, Perrotta S.

J Thromb Haemost. 2010 Sep;8(9):2085-7. doi: 10.1111/j.1538-7836.2010.03979.x. No abstract available.


Reduction in fragile X related 1 protein causes cardiomyopathy and muscular dystrophy in zebrafish.

Van't Padje S, Chaudhry B, Severijnen LA, van der Linde HC, Mientjes EJ, Oostra BA, Willemsen R.

J Exp Biol. 2009 Aug;212(Pt 16):2564-70. doi: 10.1242/jeb.032532.


Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, Nelson DL, Oostra BA, Willemsen R.

Exp Cell Res. 2007 Jan 15;313(2):244-53. Epub 2006 Oct 13.


Negative regulation of the RelA/p65 transactivation function by the product of the DEK proto-oncogene.

Sammons M, Wan SS, Vogel NL, Mientjes EJ, Grosveld G, Ashburner BP.

J Biol Chem. 2006 Sep 15;281(37):26802-12. Epub 2006 Jul 7.


The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.

Mientjes EJ, Nieuwenhuizen I, Kirkpatrick L, Zu T, Hoogeveen-Westerveld M, Severijnen L, Rifé M, Willemsen R, Nelson DL, Oostra BA.

Neurobiol Dis. 2006 Mar;21(3):549-55. Epub 2005 Oct 26.


Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo.

Mientjes EJ, Willemsen R, Kirkpatrick LL, Nieuwenhuizen IM, Hoogeveen-Westerveld M, Verweij M, Reis S, Bardoni B, Hoogeveen AT, Oostra BA, Nelson DL.

Hum Mol Genet. 2004 Jul 1;13(13):1291-302. Epub 2004 May 5.


The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA.

Hum Mol Genet. 2003 May 1;12(9):949-59.


Daxx and histone deacetylase II associate with chromatin through an interaction with core histones and the chromatin-associated protein Dek.

Hollenbach AD, McPherson CJ, Mientjes EJ, Iyengar R, Grosveld G.

J Cell Sci. 2002 Aug 15;115(Pt 16):3319-30.


DNA adducts, mutant frequencies, and mutation spectra in various organs of lambda lacZ mice exposed to ethylating agents.

Mientjes EJ, Luiten-Schuite A, van der Wolf E, Borsboom Y, Bergmans A, Berends F, Lohman PH, Baan RA, van Delft JH.

Environ Mol Mutagen. 1998;31(1):18-31.


UVB-induced mutagenesis in hairless lambda lacZ-transgenic mice.

Frijhoff AF, Rebel H, Mientjes EJ, Kelders MC, Steenwinkel MJ, Baan RA, van Zeeland AA, Roza L.

Environ Mol Mutagen. 1997;29(2):136-42.


Formation and persistence of O6-ethylguanine in genomic and transgene DNA in liver and brain of lambda(lacZ) transgenic mice treated with N-ethyl-N-nitrosourea.

Mientjes EJ, Hochleitner K, Luiten-Schuite A, van Delft JH, Thomale J, Berends F, Rajewsky MF, Lohman PH, Baan RA.

Carcinogenesis. 1996 Nov;17(11):2449-54.


Comparison of the X-gal- and P-gal-based systems for screening of mutant lambda lacZ phages originating from the transgenic mouse strain 40.6.

Mientjes EJ, Steenwinkel MJ, van Delft JH, Lohman PH, Baan RA.

Mutat Res. 1996 Jun 10;360(2):101-6.


Inhibition of bacteriophage Mu transposition by Mu repressor and Fis.

van Drunen CM, van Zuylen C, Mientjes EJ, Goosen N, van de Putte P.

Mol Microbiol. 1993 Oct;10(2):293-8.


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