E. Mientjes

发表

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

Mariette Schrier, J. Holstege, B. Oostra, 2003, Human molecular genetics.

Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome

E. De Schutter, C. I. De Zeeuw, B. R. Dortland, 2005, Neuron.

Chapter 5 Ube 3 a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

S. Kushner, Y. Elgersma, B. Distel, 2017 .

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

S. Kushner, Y. Elgersma, B. Distel, 2015, The Journal of clinical investigation.

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

D. Nelson, B. Oostra, R. Willemsen, 2006, Neurobiology of Disease.

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

R. Baan, J. V. van Delft, P. Lohman, 1998, Environmental and molecular mutagenesis.

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

M. Cecchini, I. Tonazzini, Y. Elgersma, 2019, Molecular Autism.

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

S. Perrotta, B. Oostra, A. Bertoli-Avella, 2010, Journal of thrombosis and haemostasis : JTH.

A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets

R. Jagasia, S. Tyanova, Y. Elgersma, 2022, Molecular Psychiatry.

Formation and persistence of O6-ethylguanine in genomic and transgene DNA in liver and brain of λlacZ transgenic mice treated with N-ethyl-N-nitrosourea

R. Baan, J. V. van Delft, J. Thomale, 1996 .

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

Meghan T. Miller, Y. Elgersma, M. Hoener, 2021, JCI insight.

Angelman Syndrome: From Mouse Models to Therapy

D. Rotaru, Y. Elgersma, E. Mientjes, 2020, Neuroscience.

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

B. V. van Bon, S. Kushner, S. Küry, 2018, Human mutation.

The Acute Myeloid Leukemia-Associated Protein, Dek, Forms a Splicing-Dependent Interaction with Exon-Product Complexes

B. Blencowe, J. Greenblatt, R. Arnaout, 2000, The Journal of cell biology.

DAZL Limits Pluripotency, Differentiation, and Apoptosis in Developing Primordial Germ Cells

A. Krainer, Hsu-hsin Chen, A. Heck, 2014, Stem cell reports.

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

D. Nelson, B. Oostra, B. Bardoni, 2004, Human molecular genetics.

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

D. Nelson, C. Bagni, R. Kooy, 2015, Cell cycle.

Negative Regulation of the RelA/p65 Transactivation Function by the Product of the DEK Proto-oncogene*

Morgan A. Sammons, G. Grosveld, E. Mientjes, 2006, Journal of Biological Chemistry.

Improvement of ubiquitylation site detection by Orbitrap mass spectrometry.

Jeroen A. A. Demmers, E. Rijkers, Y. Elgersma, 2018, Journal of proteomics.

Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937

G. Grosveld, E. Mientjes, A. Kandilci, 2004, Leukemia.

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

Y. Elgersma, Peipei Zhai, G. V. van Woerden, 2020, Molecular Autism.

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

R. Jagasia, B. Bánfai, T. Dunkley, 2021, Cell reports. Medicine.

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

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

D. Nelson, B. Oostra, R. Willemsen, 2007, Experimental cell research.

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS)

R. Frank Kooy, Ben A. Oostra, Debby Van Dam, 2005, Behavioural Brain Research.

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

G. Grosveld, A. Hollenbach, C. McPherson, 2002, Journal of cell science.

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

B. Oostra, R. Willemsen, L. Severijnen, 2009, Journal of Experimental Biology.

Transposase A binding sites in the attachment sites of bacteriophage Mu that are essential for the activity of the enhancer and A binding sites that promote transposition towards Fpro-lac.

P. van de Putte, C. V. van Drunen, N. Goosen, 1994, Nucleic acids research.

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

Dan Cohen, M. Arfan Ikram, Meike W. Vernooij, 2018, Molecular Psychiatry.

UVB‐induced mutagenesis in hairless λlacZ‐transgenic mice

R. Baan, M. Steenwinkel, L. Roza, 1997 .

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

Alcino J. Silva, S. Kushner, A. Smit, 2015, Molecular Psychiatry.

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

Y. Elgersma, Yana van der Weegen, M. van den Berg, 2020, Scientific Reports.

Inhibition of bacteriophage Mu transposition by Mu repressor and Fis

N. Goosen, E. Mientjes, P. Putte, 1993, Molecular microbiology.

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

S. Kushner, D. Rotaru, Y. Elgersma, 2019, Nature Neuroscience.

An improved selection method for λlacZ− phages based on galactose sensitivity

J. V. Delft, R. Baan, J. Vijg, 2005, Transgenic Research.

FXTAS: A progressive neurologic syndrome associated with fragile X premutation

B. Oostra, R. Willemsen, E. Mientjes, 2005, Current neurology and neuroscience reports.

Synaptic ionotropic glutamate receptors and plasticity are developmentally altered in the CA1 field of Fmr1 knockout mice

A. Frick, P. Seeburg, B. Oostra, 2009, The Journal of physiology.

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

S. Kushner, D. Rotaru, Y. Elgersma, 2019, Nature Neuroscience.

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.

R. Baan, M. Steenwinkel, J. V. van Delft, 1996, Mutation research.

Angelman Syndrome: From Mouse Models to Therapy

D. Rotaru, Y. Elgersma, E. Mientjes, 2020, Neuroscience.