UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

le Groen, Ewout J.N., Gillingwater, Thomas H.
Foilsithe in Trends Mol Med (2015)

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

le Shorrock, Hannah K., Gillingwater, Thomas H., Groen, Ewout J. N.
Foilsithe in Drugs (2018)

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

le Shorrock, Hannah K., Gillingwater, Thomas H., Groen, Ewout J. N.
Foilsithe in Front Mol Neurosci (2019)

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

le Lauria, Fabio, Tebaldi, Toma, Bernabò, Paola, Groen, Ewout J. N., Gillingwater, Thomas H., Viero, Gabriella
Foilsithe in PLoS Comput Biol (2018)

Protein aggregation in amyotrophic lateral sclerosis

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

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

le Thompson, Luke W., Morrison, Kim D., Shirran, Sally L., Groen, Ewout J. N., Gillingwater, Thomas H., Botting, Catherine H., Sleeman, Judith E.
Foilsithe in J Cell Sci (2018)

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

le 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.
Foilsithe in Hum Mol Genet (2016)

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

le 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
Foilsithe in Hum Mol Genet (2018)

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

le 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
Foilsithe in Brain (2018)

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

le 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
Foilsithe in Hum Mol Genet (2020)

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

le 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
Foilsithe in Cell Rep (2017)

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

le 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.
Foilsithe in Neurol Genet (2021)

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

le 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.
Foilsithe in JCI Insight (2016)

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

le 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
Foilsithe in Brain Commun (2020)

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

le 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.
Foilsithe in PLoS One (2018)

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

le 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.
Foilsithe in PLoS Genet (2017)

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

le 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
Foilsithe in Neurol Genet (2019)

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

le Blokhuis, Anna M., Koppers, Max, Groen, Ewout J. N., van den Heuvel, Dianne M. A., Dini Modigliani, Stefano, Anink, Jasper J., Fumoto, Katsumi, van Diggelen, Femke, Snelting, Anne, Sodaar, Peter, Verheijen, Bert M., Demmers, Jeroen A. A., Veldink, Jan H., Aronica, Eleonora, Bozzoni, Irene, den Hertog, Jeroen, van den Berg, Leonard H., Pasterkamp, R. Jeroen
Foilsithe in Acta Neuropathol (2016)

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

le Diekstra, Frank P., Saris, Christiaan G. J., van Rheenen, Wouter, Franke, Lude, Jansen, Ritsert C., van Es, Michael A., van Vught, Paul W. J., Blauw, Hylke M., Groen, Ewout J. N., Horvath, Steve, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Robberecht, Wim, Andersen, Peter M., Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E., Brown, Robert H., Shatunov, Aleksey, Shaw, Christopher E., Leigh, P. Nigel, Al-Chalabi, Ammar, Ophoff, Roel A., van den Berg, Leonard H., Veldink, Jan H.
Foilsithe 2012

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

le van Doormaal, Perry T.C., Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Chiò, Adriano, Calvo, Andrea, Mora, Gabriele, Restagno, Gabriella, Traynor, Bryan J., Birve, Anna, Lemmens, Robin, van Es, Michael A., Saris, Christiaan G.J., Blauw, Hylke M., van Vught, Paul W.J., Groen, Ewout J.N., Corrado, Lucia, Mazzini, Letizia, Bo, Roberto Del, Corti, Stefania, Waibel, Stefan, Meyer, Thomas, Ludolph, Albert C., Goris, An, van Damme, Philip, Robberecht, Wim, Shatunov, Aleksey, Fogh, Isabella, Andersen, Peter M., D’Alfonso, Sandra, Hardiman, Orla, Cronin, Simon, Rujescu, Dan, Al-Chalabi, Ammar, Landers, John E., Silani, Vincenzo, van den Berg, Leonard H., Veldink, Jan H.
Foilsithe in Neurobiol Aging (2014)