Publications by authors named "Ben Distel"

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UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation.
Melanie Loix, Sam Vanherle, Laura Bolkaerts, Sanne G S Verberk, Mattijs Punt, Ben Distel

Nat Commun· August 2025

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Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
Annelot C M van Esbroeck, Rob F M Verhagen, Martina Biagioni, Matteo Fossati, Ben Distel

Hum Mol Genet· June 2025

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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Ben Distel

Genet Med· June 2024

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From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.
F Isabella Zampeta, Ben Distel, Ype Elgersma, Rik Iping

Hum Genet· December 2022

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The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
Eva M G Viho, A Mattijs Punt, Ben Distel, René Houtman, Jan Kroon

Int J Mol Sci· December 2022

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A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets.
Nikhil J Pandya, Sonja Meier, Stefka Tyanova, Marco Terrigno, Congwei Wang, Ben Distel

Mol Psychiatry· May 2022

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Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Nikhil J Pandya, Congwei Wang, Veronica Costa, Paul Lopatta, Sonja Meier, Ben Distel

Cell Rep Med· August 2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza

Hum Mutat· April 2021

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Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Stijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf, Janny van den Burg, Mark G Williams, Ben Distel

Hum Mol Genet· April 2021

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Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
Rossella Avagliano Trezza, A Mattijs Punt, Edwin Mientjes, Marlene van den Berg, F Isabella Zampeta, Ben Distel

Sci Rep· February 2021

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Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
F Isabella Zampeta, Monica Sonzogni, Eva Niggl, Bas Lendemeijer, Hilde Smeenk, Ben Distel

Hum Mol Genet· November 2020

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A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Amber Geerts-Haages, Stijn N V Bossuyt, Inge den Besten, Hennie Bruggenwirth, Ineke van der Burgt, Ben Distel

Mol Genet Genomic Med· November 2020

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Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Rossella Avagliano Trezza, Monica Sonzogni, Stijn N V Bossuyt, F Isabella Zampeta, A Mattijs Punt, Ben Distel

Nat Neurosci· August 2019

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Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
Femke M de Vrij, Christian G Bouwkamp, Nilhan Gunhanlar, Guy Shpak, Bas Lendemeijer, Ben Distel

Mol Psychiatry· May 2019

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Regulating the human HECT E3 ligases.
Jasper Sluimer, Ben Distel

Cell Mol Life Sci· September 2018

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A versatile plasmid system for reconstitution and analysis of mammalian ubiquitination cascades in yeast.
Rossella Avagliano Trezza, Janny van den Burg, Nico van den Oever, Ben Distel

Microb Cell· December 2017

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Sébastien Küry, Geeske M van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Ben Distel

Am J Hum Genet· November 2017

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LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Johanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, Marit B de Wissel, Marlene van den Berg, Ben Distel

Hum Mol Genet· June 2017

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Binding of a proline-independent hydrophobic motif by the Candida albicans Rvs167-3 SH3 domain.
Areti Gkourtsa, Janny van den Burg, Teja Avula, Frans Hochstenbach, Ben Distel

Microbiol Res· September 2016

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Evolution of the SH3 Domain Specificity Landscape in Yeasts.
Erik Verschueren, Matthias Spiess, Areti Gkourtsa, Teja Avula, Christiane Landgraf, Ben Distel

PLoS One· April 2016

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Contribution of Fdh3 and Glr1 to Glutathione Redox State, Stress Adaptation and Virulence in Candida albicans.
Anna T Tillmann, Karin Strijbis, Gary Cameron, Elahe Radmaneshfar, Marco Thiel, Ben Distel

PLoS One· February 2016

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The Deubiquitylase USP2 Regulates the LDLR Pathway by Counteracting the E3-Ubiquitin Ligase IDOL.
Jessica Kristine Nelson, Vincenzo Sorrentino, Rossella Avagliano Trezza, Claire Heride, Sylvie Urbe, Ben Distel

Circ Res· February 2016

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Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.
Sara Silva-Santos, Geeske M van Woerden, Caroline F Bruinsma, Edwin Mientjes, Mehrnoush Aghadavoud Jolfaei, Ben Distel

J Clin Invest· May 2015

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Identification and characterization of Rvs162/Rvs167-3, a novel N-BAR heterodimer in the human fungal pathogen Candida albicans.
Areti Gkourtsa, Janny van den Burg, Karin Strijbis, Teja Avula, Sietske Bijvoets, Ben Distel

Eukaryot Cell· February 2015

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A disulphide bond in the E2 enzyme Pex4p modulates ubiquitin-conjugating activity.
Chris Williams, Marlene van den Berg, Will A Stanley, Matthias Wilmanns, Ben Distel

Sci Rep· February 2014

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