Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy
Shorrock, Hannah K., Gillingwater, Thomas H., Groen, Ewout J. N.
Published in Drugs (New York, N.Y.) (01.03.2018)
Published in Drugs (New York, N.Y.) (01.03.2018)
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In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
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
Published in Cell reports (Cambridge) (24.10.2017)
Published in Cell reports (Cambridge) (24.10.2017)
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Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect
Zhou, Haiyan, Hong, Ying, Scoto, Mariacristina, Thomson, Alison, Pead, Emma, MacGillivray, Tom, Hernandez-Gerez, Elena, Catapano, Francesco, Meng, Jinhong, Zhang, Qiang, Hunter, Gillian, Shorrock, Hannah K, Ng, Thomas K, Hamida, Abedallah, Sanson, Mathilde, Baranello, Giovanni, Howell, Kevin, Gillingwater, Thomas H, Brogan, Paul, Thompson, Dorothy A, Parson, Simon H, Muntoni, Francesco
Published in The Journal of clinical investigation (01.11.2022)
Published in The Journal of clinical investigation (01.11.2022)
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Journal Article
Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA
Shorrock, Hannah K, Gillingwater, Thomas H, Groen, Ewout J N
Published in Frontiers in molecular neuroscience (04.03.2019)
Published in Frontiers in molecular neuroscience (04.03.2019)
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Journal Article
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Perez, Barbara A, Shorrock, Hannah K, Banez‐Coronel, Monica, Zu, Tao, Romano, Lisa EL, Laboissonniere, Lauren A, Reid, Tammy, Ikeda, Yoshio, Reddy, Kaalak, Gomez, Christopher M, Bird, Thomas, Ashizawa, Tetsuo, Schut, Lawrence J, Brusco, Alfredo, Berglund, J Andrew, Hasholt, Lis F, Nielsen, Jorgen E, Subramony, SH, Ranum, Laura PW
Published in EMBO molecular medicine (08.11.2021)
Published in EMBO molecular medicine (08.11.2021)
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Individual transcriptomic response to strength training for patients with myotonic dystrophy type 1
Davey, Emily E, Légaré, Cécilia, Planco, Lori, Shaughnessy, Sharon, Lennon, Claudia D, Roussel, Marie-Pier, Shorrock, Hannah K, Hung, Man, Cleary, John Douglas, Duchesne, Elise, Berglund, J Andrew
Published in JCI insight (24.07.2023)
Published in JCI insight (24.07.2023)
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Journal Article
Interventions Targeting Glucocorticoid-Krüppel-like Factor 15-Branched-Chain Amino Acid Signaling Improve Disease Phenotypes in Spinal Muscular Atrophy Mice
Walter, Lisa M., Deguise, Marc-Olivier, Meijboom, Katharina E., Betts, Corinne A., Ahlskog, Nina, van Westering, Tirsa L.E., Hazell, Gareth, McFall, Emily, Kordala, Anna, Hammond, Suzan M., Abendroth, Frank, Murray, Lyndsay M., Shorrock, Hannah K., Prosdocimo, Domenick A., Haldar, Saptarsi M., Jain, Mukesh K., Gillingwater, Thomas H., Claus, Peter, Kothary, Rashmi, Wood, Matthew J.A., Bowerman, Melissa
Published in EBioMedicine (01.05.2018)
Published in EBioMedicine (01.05.2018)
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Journal Article
Molecular characterization of myotonic dystrophy fibroblast cell lines for use in small molecule screening
Jenquin, Jana R., O’Brien, Alana P., Poukalov, Kiril, Lu, Yidan, Frias, Jesus A., Shorrock, Hannah K., Richardson, Jared I., Mazdiyasni, Hormoz, Yang, Hongfen, Huigens, Robert W., Boykin, David, Ranum, Laura P.W., Cleary, John Douglas, Wang, Eric T., Berglund, J. Andrew
Published in iScience (20.05.2022)
Published in iScience (20.05.2022)
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Journal Article
Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)
Šoltić, Darija, Bowerman, Melissa, Stock, Joanne, Shorrock, Hannah K, Gillingwater, Thomas H, Fuller, Heidi R
Published in Brain sciences (04.12.2018)
Published in Brain sciences (04.12.2018)
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Journal Article
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy
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
Published in PLoS genetics (20.04.2017)
Published in PLoS genetics (20.04.2017)
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Journal Article
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
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
Published in Human molecular genetics (15.08.2018)
Published in Human molecular genetics (15.08.2018)
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Journal Article
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias
Shorrock, Hannah K, Lennon, Claudia D, Aliyeva, Asmer, Davey, Emily E, DeMeo, Cristina C, Pritchard, Caroline E, Planco, Lori, Velez, Jose M, Mascorro-Huamancaja, Alexandra, Shin, Damian S, Cleary, John D, Berglund, J Andrew
Published in Brain (London, England : 1878) (01.02.2024)
Published in Brain (London, England : 1878) (01.02.2024)
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Journal Article
AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/− spinal muscular atrophy mice
Brown, Sharon J, Šoltić, Darija, Synowsky, Silvia A, Shirran, Sally L, Chilcott, Ellie, Shorrock, Hannah K, Gillingwater, Thomas H, Yáñez-Muñoz, Rafael J, Schneider, Bernard, Bowerman, Melissa, Fuller, Heidi R
Published in Human molecular genetics (04.10.2023)
Published in Human molecular genetics (04.10.2023)
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Journal Article
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F
Ayhan, Fatma, Perez, Barbara A, Shorrock, Hannah K, Zu, Tao, Banez‐Coronel, Monica, Reid, Tammy, Furuya, Hirokazu, Clark, H Brent, Troncoso, Juan C, Ross, Christopher A, Subramony, SH, Ashizawa, Tetsuo, Wang, Eric T, Yachnis, Anthony T, Ranum, Laura PW
Published in The EMBO journal (01.10.2018)
Published in The EMBO journal (01.10.2018)
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Journal Article
Survival of motor neurone protein is required for normal postnatal development of the spleen
Thomson, Alison K., Somers, Eilidh, Powis, Rachael A., Shorrock, Hannah K., Murphy, Kelley, Swoboda, Kathryn J., Gillingwater, Thomas H., Parson, Simon H.
Published in Journal of anatomy (01.02.2017)
Published in Journal of anatomy (01.02.2017)
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Journal Article
Disease-associated inosine misincorporation into RNA hinders translation
Schroader, Jacob H, Jones, Lindsey A, Meng, Ryan, Shorrock, Hannah K, Richardson, Jared I, Shaughnessy, Sharon M, Lin, Qishan, Begley, Thomas J, Berglund, J Andrew, Fuchs, Gabriele, Handley, Mark T, Reddy, Kaalak
Published in Nucleic acids research (09.09.2022)
Published in Nucleic acids research (09.09.2022)
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Journal Article
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
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
Published in Brain (London, England : 1878) (01.10.2018)
Published in Brain (London, England : 1878) (01.10.2018)
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Journal Article
Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy
Šoltić, Darija, Shorrock, Hannah K, Allardyce, Hazel, Wilson, Emma L, Holt, Ian, Synowsky, Silvia A, Shirran, Sally L, Parson, Simon H, Gillingwater, Thomas H, Fuller, Heidi R
Published in Human molecular genetics (01.11.2019)
Published in Human molecular genetics (01.11.2019)
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Journal Article
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy
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
Published in Human molecular genetics (01.07.2016)
Published in Human molecular genetics (01.07.2016)
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