UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

por Groen, Ewout J.N., Gillingwater, Thomas H.
Publicado 2015

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

por Shorrock, Hannah K., Gillingwater, Thomas H., Groen, Ewout J. N.
Publicado 2018

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

por Shorrock, Hannah K., Gillingwater, Thomas H., Groen, Ewout J. N.
Publicado 2019

Innovating spinal muscular atrophy models in the therapeutic era

por Signoria, Ilaria, van der Pol, W. Ludo, Groen, Ewout J. N.
Publicado 2023

riboWaltz: Optimization of ribosome P-site positioning in ribosome profiling data

por Lauria, Fabio, Tebaldi, Toma, Bernabò, Paola, Groen, Ewout J. N., Gillingwater, Thomas H., Viero, Gabriella
Publicado 2018

Protein aggregation in amyotrophic lateral sclerosis

por Blokhuis, Anna M., Groen, Ewout J. N., Koppers, Max, van den Berg, Leonard H., Pasterkamp, R. Jeroen
Publicado 2013

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology

por Thompson, Luke W., Morrison, Kim D., Shirran, Sally L., Groen, Ewout J. N., Gillingwater, Thomas H., Botting, Catherine H., Sleeman, Judith E.
Publicado 2018

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

por Hunter, Gillian, Powis, Rachael A., Jones, Ross A., Groen, Ewout J.N., Shorrock, Hannah K., Lane, Fiona M., Zheng, Yinan, Sherman, Diane L., Brophy, Peter J., Gillingwater, Thomas H.
Publicado 2016

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

por Groen, Ewout J N, Perenthaler, Elena, Courtney, Natalie L, Jordan, Crispin Y, Shorrock, Hannah K, van der Hoorn, Dinja, Huang, Yu-Ting, Murray, Lyndsay M, Viero, Gabriella, Gillingwater, Thomas H
Publicado 2018

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

por Shorrock, Hannah K, van der Hoorn, Dinja, Boyd, Penelope J, Llavero Hurtado, Maica, Lamont, Douglas J, Wirth, Brunhilde, Sleigh, James N, Schiavo, Giampietro, Wishart, Thomas M, Groen, Ewout J N, Gillingwater, Thomas H
Publicado 2018

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

por Motyl, Anna A L, Faller, Kiterie M E, Groen, Ewout J N, Kline, Rachel A, Eaton, Samantha L, Ledahawsky, Leire M, Chaytow, Helena, Lamont, Douglas J, Wishart, Thomas M, Huang, Yu-Ting, Gillingwater, Thomas H
Publicado 2020

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

por Bernabò, Paola, Tebaldi, Toma, Groen, Ewout J.N., Lane, Fiona M., Perenthaler, Elena, Mattedi, Francesca, Newbery, Helen J., Zhou, Haiyan, Zuccotti, Paola, Potrich, Valentina, Shorrock, Hannah K., Muntoni, Francesco, Quattrone, Alessandro, Gillingwater, Thomas H., Viero, Gabriella
Publicado 2017

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis

por Bos, Jeroen W., Groen, Ewout J.N., Wadman, Renske I., Curial, Chantall A.D., Molleman, Naomi N., Zegers, Marinka, van Vught, Paul W.J., Snetselaar, Reinier, Vijzelaar, Raymon, van der Pol, W. Ludo, van den Berg, Leonard H.
Publicado 2021

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

por Powis, Rachael A., Karyka, Evangelia, Boyd, Penelope, Côme, Julien, Jones, Ross A., Zheng, Yinan, Szunyogova, Eva, Groen, Ewout J.N., Hunter, Gillian, Thomson, Derek, Wishart, Thomas M., Becker, Catherina G., Parson, Simon H., Martinat, Cécile, Azzouz, Mimoun, Gillingwater, Thomas H.
Publicado 2016

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

por Wadman, Renske I, Jansen, Marc D, Stam, Marloes, Wijngaarde, Camiel A, Curial, Chantall A D, Medic, Jelena, Sodaar, Peter, Schouten, Jan, Vijzelaar, Raymon, Lemmink, Henny H, van den Berg, Leonard H, Groen, Ewout J N, van der Pol, W Ludo
Publicado 2020

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study

por van Rheenen, Wouter, Diekstra, Frank P., Harschnitz, Oliver, Westeneng, Henk-Jan, van Eijk, Kristel R., Saris, Christiaan G. J., Groen, Ewout J. N., van Es, Michael A., Blauw, Hylke M., van Vught, Paul W. J., Veldink, Jan H., van den Berg, Leonard H.
Publicado 2018

The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo

por Ledahawsky, Leire M., Terzenidou, Maria Eirini, Edwards, Ruairidh, Kline, Rachel A., Graham, Laura C., Eaton, Samantha L., van der Hoorn, Dinja, Chaytow, Helena, Huang, Yu‐Ting, Groen, Ewout J. N., Motyl, Anna A. L., Lamont, Douglas J., Tokatlidis, Kostas, Wishart, Thomas M., Gillingwater, Thomas H.
Publicado 2022

Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study

por Scheijmans, Féline E V, Cuppen, Inge, van Eijk, Ruben P A, Wijngaarde, Camiel A, Schoenmakers, Marja A G C, van der Woude, Danny R, Bartels, Bart, Veldhoen, Esther S, Oude Lansink, Irene L B, Groen, Ewout J N, Asselman, Fay-Lynn, Wadman, Renske I, van der Pol, W Ludo
Publicado 2022

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

por Boyd, Penelope J., Tu, Wen-Yo, Shorrock, Hannah K., Groen, Ewout J. N., Carter, Roderick N., Powis, Rachael A., Thomson, Sophie R., Thomson, Derek, Graham, Laura C., Motyl, Anna A. L., Wishart, Thomas M., Highley, J. Robin, Morton, Nicholas M., Becker, Thomas, Becker, Catherina G., Heath, Paul R., Gillingwater, Thomas H.
Publicado 2017

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

por Wadman, Renske I., Jansen, Marc D., Curial, Chantall A.D., Groen, Ewout J.N., Stam, Marloes, Wijngaarde, Camiel A., Medic, Jelena, Sodaar, Peter, van Eijk, Kristel R., Huibers, Manon M.H., van Kuik, Joyce, Lemmink, Henny H., van Rheenen, Wouter, Veldink, Jan Herman, van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2019