Výsledky vyhledávání - "Edwin J, Mientjes"

Akademický článek

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

Autor: Monica Sonzogni, Peipei Zhai, Edwin J. Mientjes, Geeske M. van Woerden, Ype Elgersma

Publikováno v: Molecular Autism, Vol 11, Iss 1, Pp 1-12 (2020)

Abstract Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In neurons, UBE3A expression is tightly regulated by a mechanism of imprinting which suppresses th

Externí odkaz: https://doaj.org/article/b539d1fa5dfd432a9e8a6071f4abe41b

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Akademický článek

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

Autor: Claudia Milazzo, Edwin J. Mientjes, Ilse Wallaard, Søren Vestergaard Rasmussen, Kamille Dumong Erichsen, Tejaswini Kakunuri, A.S. Elise van der Sman, Thomas Kremer, Meghan T. Miller, Marius C. Hoener, Ype Elgersma

Publikováno v: JCI Insight, Vol 6, Iss 15 (2021)

Angelman syndrome (AS) is a severe neurodevelopmental disorder for which only symptomatic treatment with limited benefits is available. AS is caused by mutations affecting the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene. Previous s

Externí odkaz: https://doaj.org/article/4d87e9763e67445f825996968575d00d

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Akademický článek

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

Autor: Ilaria Tonazzini, Geeske M. Van Woerden, Cecilia Masciullo, Edwin J. Mientjes, Ype Elgersma, Marco Cecchini

Publikováno v: Molecular Autism, Vol 10, Iss 1, Pp 1-18 (2019)

Abstract Background Although neuronal extracellular sensing is emerging as crucial for brain wiring and therefore plasticity, little is known about these processes in neurodevelopmental disorders. Ubiquitin protein ligase E3A (UBE3A) plays a key role

Externí odkaz: https://doaj.org/article/58db20dd5da042619a92265d2181039b

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

Autor: Rossella, Avagliano Trezza, Monica, Sonzogni, Stijn N V, Bossuyt, F Isabella, Zampeta, A Mattijs, Punt, Marlene, van den Berg, Diana C, Rotaru, Linda M C, Koene, Shashini T, Munshi, Jeffrey, Stedehouder, Johan M, Kros, Mark, Williams, Helen, Heussler, Femke M S, de Vrij, Edwin J, Mientjes, Geeske M, van Woerden, Steven A, Kushner, Ben, Distel, Ype, Elgersma

Publikováno v: Nature neuroscience. 22(8)

Mutations affecting the gene encoding the ubiquitin ligase UBE3A cause Angelman syndrome. Although most studies focus on the synaptic function of UBE3A, we show that UBE3A is highly enriched in the nucleus of mouse and human neurons. We found that th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb3e5ddef64686f72a3f404d7c534333
https://pubmed.ncbi.nlm.nih.gov/31235931

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

Autor: Gerard Grosveld, Edwin J. Mientjes, Rekha Iyengar, Craig J. McPherson, Andrew D. Hollenbach

Publikováno v: Journal of Cell Science. 115:3319-3330

Human Daxx is a protein that functions, in part, as a transcriptional co-repressor through its interaction with a growing number of nuclear,DNA-associated proteins. To determine the mechanism by which hDaxx represses transcription, we used convention

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aa2d68a08cdf43eed2b7907878b8d93
https://doi.org/10.1242/jcs.115.16.3319

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UVB-induced mutagenesis in hairless λlacZ-transgenic mice

Autor: Marie-José S. T. Steenwinkel, Robert A. Baan, Len Roza, Anita F.W. Frijhoff, Albert A. van Zeeland, Marco C. J. M. Kelders, Edwin J. Mientjes, Heggert Rebel

Publikováno v: Environmental and Molecular Mutagenesis. 29:136-142

UVB-induced mutagenesis was studied in hairless 40.6 transgenic mice (Muta{trademark}Mouse), which contain the {lambda}gt1OlacZ shuttle vector as a target for mutagenesis. Mice were exposed at the dorsal side to either single doses of 200, 500, 800,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::933e68da3d494a40c8414dc19e5d95f4
https://doi.org/10.1002/(sici)1098-2280(1997)29:2<136::aid-em4>3.0.co

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

Autor: Gerard Grosveld, Morgan A. Sammons, Nancy L. Vogel, Brian P. Ashburner, Edwin J. Mientjes, Shan Shan Wan

Publikováno v: The Journal of biological chemistry. 281(37)

NF-kappaB-mediated transcriptional activation is controlled at several levels including interaction with coregulatory proteins. To identify new proteins capable of modulating NF-kappaB-mediated activation, a cytoplasmic two-hybrid screen was performe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f65c4c9a2609efcca016e0c9b8ef019
https://pubmed.ncbi.nlm.nih.gov/16829531

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