Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

by Darina Šikrová, Vlad A. Cadar, Yavuz Ariyurek, Jeroen F.J. Laros, Judit Balog, Silvère M. van der Maarel
Published 2021-09-01

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

by Qing Feng, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Robert K Bradley
Published 2015-01-01

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.

by Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini
Published 2020-01-01

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

by Amy E Campbell, Sean C Shadle, Sujatha Jagannathan, Jong-Won Lim, Rebecca Resnick, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott
Published 2018-03-01

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

by Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M. van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini, Alfred S Lewin
Published 2020-01-01

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

by Linde F. Bouwman, Bianca den Hamer, Elwin P. Verveer, Lente J. S. Lerink, Yvonne D. Krom, Silvère M. van der Maarel, Jessica C. de Greef
Published 2020-10-01

Correction: Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy.

by Seyed Yahya Anvar, Allan Tucker, Veronica Vinciotti, Andrea Venema, Gert-Jan B. van Ommen, Silvere M. van der Maarel, Vered Raz, Peter A. C. ‘t Hoen
Published 2011-11-01

Interspecies translation of disease networks increases robustness and predictive accuracy.

by Seyed Yahya Anvar, Allan Tucker, Veronica Vinciotti, Andrea Venema, Gert-Jan B van Ommen, Silvere M van der Maarel, Vered Raz, Peter A C 't Hoen
Published 2011-11-01

Meeting report: the 2020 FSHD International Research Congress

by Michael Kyba, Robert J. Bloch, Julie Dumonceaux, Scott Q. Harper, Silvère M. van der Maarel, Francis M. Sverdrup, Kathryn R. Wagner, Baziel van Engelen, Yi-Wen Chen
Published 2020-12-01

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

by Janet M Young, Jennifer L Whiddon, Zizhen Yao, Bhavatharini Kasinathan, Lauren Snider, Linda N Geng, Judit Balog, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott
Published 2013-11-01

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

by Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. Tapscott
Published 2019-11-01

DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy.

by Sean C Shadle, Jun Wen Zhong, Amy E Campbell, Melissa L Conerly, Sujatha Jagannathan, Chao-Jen Wong, Timothy D Morello, Silvère M van der Maarel, Stephen J Tapscott
Published 2017-03-01

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity.

by Antoine de Morrée, Paul J Hensbergen, Herman H H B M van Haagen, Irina Dragan, André M Deelder, Peter A C 't Hoen, Rune R Frants, Silvère M van der Maarel
Published 2010-01-01

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

by Gregory J Block, Lisa M Petek, Divya Narayanan, Amanda M Amell, James M Moore, Natalia A Rabaia, Ashlee Tyler, Silvere M van der Maarel, Rabi Tawil, Galina N Filippova, Daniel G Miller
Published 2012-01-01

In vivo detection of amyloid-β deposits using heavy chain antibody fragments in a transgenic mouse model for Alzheimer's disease.

by Rob J A Nabuurs, Kim S Rutgers, Mick M Welling, Athanasios Metaxas, Maaike E de Backer, Maarten Rotman, Brian J Bacskai, Mark A van Buchem, Silvère M van der Maarel, Louise van der Weerd
Published 2012-01-01

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

by Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B Ware, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller
Published 2010-10-01

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells

by Amy E. Campbell, Jonathan Oliva, Matthew P. Yates, Jun Wen Zhong, Sean C. Shadle, Lauren Snider, Nikita Singh, Shannon Tai, Yosuke Hiramuki, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott, Francis M. Sverdrup
Published 2017-09-01

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.

by Antoine de Morrée, David Lutje Hulsik, Antonietta Impagliazzo, Herman H H B M van Haagen, Paula de Galan, Alexandra van Remoortere, Peter A C 't Hoen, Gertjan B van Ommen, Rune R Frants, Silvère M van der Maarel
Published 2010-01-01

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

by Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel
Published 2017-06-01

Novel protein-protein interactions inferred from literature context.

by Herman H H B M van Haagen, Peter A C 't Hoen, Alessandro Botelho Bovo, Antoine de Morrée, Erik M van Mulligen, Christine Chichester, Jan A Kors, Johan T den Dunnen, Gert-Jan B van Ommen, Silvère M van der Maarel, Vinícius Medina Kern, Barend Mons, Martijn J Schuemie
Published 2009-11-01