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Editorial

Moving towards treatments for spinal muscular atrophy: hopes and limits

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Federica Ricci, Martina Vacchetti, Chiara Brusa, Liliana Vercelli, Chiara Davico, Benedetto Vitiello & Tiziana Mongini. (2019) New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. Expert Review of Clinical Pharmacology 12:8, pages 757-770.
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Thomas H. Gillingwater. (2016) Counting the cost of spinal muscular atrophy. Journal of Medical Economics 19:8, pages 827-828.
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Bo Bao & Toshifumi Yokota. (2015) Potential of antisense therapy for facioscapulohumeral muscular dystrophy. Expert Opinion on Orphan Drugs 3:12, pages 1365-1374.
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Articles from other publishers (36)

Sepideh Saeb, Jeanne Van Assche, Thomas Loustau, Olivier Rohr, Clémentine Wallet & Christian Schwartz. (2022) Suicide gene therapy in cancer and HIV-1 infection: An alternative to conventional treatments. Biochemical Pharmacology 197, pages 114893.
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Sepideh Saeb, Mehrdad Ravanshad, Mahmoud Reza Pourkarim, Fadoua Daouad, Kazem Baesi, Olivier Rohr, Clémentine Wallet & Christian Schwartz. (2021) Brain HIV-1 latently-infected reservoirs targeted by the suicide gene strategy. Virology Journal 18:1.
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Fahad A. Bashiri, Mohamad-Hani Temsah, Khalid Hundallah, Fahad Alsohime & Yazed AlRuthia. (2021) 2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia. Frontiers in Pediatrics 9.
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Wiebke A. Rehorst, Maximilian P. Thelen, Hendrik Nolte, Clara Türk, Sebahattin Cirak, Jonathan M. Peterson, G. William Wong, Brunhilde Wirth, Marcus Krüger, Dominic Winter & Min Jeong Kye. (2019) Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy. Acta Neuropathologica Communications 7:1.
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Raymon Vijzelaar, Reinier Snetselaar, Martijn Clausen, Amanda G. Mason, Marrit Rinsma, Marinka Zegers, Naomi Molleman, Renske Boschloo, Rizkat Yilmaz, Romy Kuilboer, Sylvia Lens, Syamiroh Sulchan & Jan Schouten. (2019) The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent. PLOS ONE 14:7, pages e0220211.
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Sandra de la Fuente, Alba Sansa, Ambika Periyakaruppiah, Ana Garcera & Rosa M. Soler. (2018) Calpain Inhibition Increases SMN Protein in Spinal Cord Motoneurons and Ameliorates the Spinal Muscular Atrophy Phenotype in Mice. Molecular Neurobiology 56:6, pages 4414-4427.
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Scott L. Lipnick, Denis M. Agniel, Rahul Aggarwal, Nina R. Makhortova, Samuel G. Finlayson, Alexandra Brocato, Nathan Palmer, Basil T. Darras, Isaac Kohane & Lee L. Rubin. (2019) Systemic nature of spinal muscular atrophy revealed by studying insurance claims. PLOS ONE 14:3, pages e0213680.
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Luca Bors & Franciska Erdő. (2019) Overcoming the Blood–Brain Barrier. Challenges and Tricks for CNS Drug Delivery. Scientia Pharmaceutica 87:1, pages 6.
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Aaradhita Upadhyay, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Anna Kaczmarek, Laura Torres-Benito, Natalia Mendoza-Ferreira, Melina Overhoff, Roman Rombo, Vanessa Grysko, Min Jeong Kye, Natalia L. Kononenko & Brunhilde Wirth. (2019) Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological. Frontiers in Molecular Neuroscience 12.
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Eva Janzen, Natalia Mendoza-Ferreira, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Kristina Hupperich, Theresa Tschanz, Vanessa Grysko, Markus Riessland, Matthias Hammerschmidt, Frank Rigo, C Frank Bennett, Min Jeong Kye, Laura Torres-Benito & Brunhilde Wirth. (2018) CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain 141:8, pages 2343-2361.
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Jodie Stephenson, Erik Nutma, Paul van der Valk & Sandra Amor. (2018) Inflammation in CNS neurodegenerative diseases. Immunology 154:2, pages 204-219.
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Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M. McCormick, Amy Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xiaoyan Wang, John L. P. Thompson & Marni J. Falk. (2018) Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLOS ONE 13:5, pages e0197513.
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Tania F. Gendron & Leonard Petrucelli. (2018) Disease Mechanisms of C9ORF72 Repeat Expansions . Cold Spring Harbor Perspectives in Medicine 8:4, pages a024224.
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Jonathan B. RosenbergMichael G. KaplittBishnu P. DeAlvin ChenThomas FlagielloChristiana SalamiEduard PeyLingzhi ZhaoRodolfo J. Ricart ArbonaSebastien MonetteJonathan P. DykeDouglas J. BallonStephen M. KaminskyDolan SondhiGregory A. PetskoSteven M. PaulRonald G. Crystal. (2018) AAVrh.10-Mediated APOE2 Central Nervous System Gene Therapy for APOE4-Associated Alzheimer's Disease. Human Gene Therapy Clinical Development 29:1, pages 24-47.
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Kristin J. Krosschell, John T. Kissel, Elise L. Townsend, Sarah D. Simeone, Ren Zhe Zhang, Sandra P. Reyna, Thomas O. Crawford, Mary K. Schroth, Gyula Acsadi, Priya S. Kishnani, Jürgen-Christoph Von Kleist-Retzow, Barbara Hero, Guy D'Anjou, Edward C. Smith, Bakri Elsheikh, Louise R. Simard, Thomas W. Prior, Charles B. Scott, Bernard Lasalle, Ai Sakonju, Brunhilde Wirth & Kathryn J. Swoboda. (2018) Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I. Muscle & Nerve 57:2, pages 193-199.
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Claudia D. Wurster & Albert C. Ludolph. (2018) Nusinersen for spinal muscular atrophy. Therapeutic Advances in Neurological Disorders 11, pages 175628561875445.
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Elin Hjorth, Ulrika Kreicbergs, Thomas Sejersen & Malin Lövgren. (2018) Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. European Journal of Paediatric Neurology 22:1, pages 128-134.
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Phillip L. Price, Dmytro Morderer & Wilfried Rossoll. 2018. RNA Metabolism in Neurodegenerative Diseases. RNA Metabolism in Neurodegenerative Diseases 143 171 .
V Christie-Brown, J Mitchell & K Talbot. (2017) The SMA Trust: the role of a disease-focused research charity in developing treatments for SMA. Gene Therapy 24:9, pages 544-546.
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S Jablonka & M Sendtner. (2017) Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy. Gene Therapy 24:9, pages 506-513.
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Erkan Y. Osman, Charles W. Washington, Madeline E. Simon, Dalia Megiddo, Hagar Greif & Christian L. Lorson. (2017) Analysis of Azithromycin Monohydrate as a Single or a Combinatorial Therapy in a Mouse Model of Severe Spinal Muscular Atrophy. Journal of Neuromuscular Diseases 4:3, pages 237-249.
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Jean-Marie Cuisset, Amélie Hamain, Alexandra Binoche, Stéphanie Coopman, Louis Vallée & Sylvie N’Guyen. (2017) Intérêt des traitements pharmacologiques symptomatiques des maladies neuromusculaires de l’enfant. Les Cahiers de Myologie:15, pages 30-33.
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Penelope J. Boyd, Wen-Yo Tu, Hannah K. Shorrock, Ewout J. N. Groen, Roderick N. Carter, Rachael A. Powis, Sophie R. Thomson, Derek Thomson, Laura C. Graham, Anna A. L. Motyl, Thomas M. Wishart, J. Robin Highley, Nicholas M. Morton, Thomas Becker, Catherina G. Becker, Paul R. Heath & Thomas H. Gillingwater. (2017) Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLOS Genetics 13:4, pages e1006744.
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Kevin A. Kaifer, Eric Villalón, Erkan Y. Osman, Jacqueline J. Glascock, Laura L. Arnold, D.D.W. Cornelison & Christian L. Lorson. (2017) Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy. JCI Insight 2:5.
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Ravindra N. Singh, Matthew D. Howell, Eric W. Ottesen & Natalia N. Singh. (2017) Diverse role of survival motor neuron protein. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 1860:3, pages 299-315.
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Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J. Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen, Alexander Hoischen, Gudrun Nürnberg, Peter Nürnberg, Michael Walter, Frank Rigo, C. Frank Bennett, Min Jeong Kye, Anne C. Hart, Matthias Hammerschmidt, Peter Kloppenburg & Brunhilde Wirth. (2017) Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. The American Journal of Human Genetics 100:2, pages 297-315.
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Steven F. Merkel, Allison M. Andrews, Evan M. Lutton, Dakai Mu, Eloise Hudry, Bradley T. Hyman, Casey A. Maguire & Servio H. Ramirez. (2017) Trafficking of adeno-associated virus vectors across a model of the blood-brain barrier; a comparative study of transcytosis and transduction using primary human brain endothelial cells. Journal of Neurochemistry 140:2, pages 216-230.
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Klaudia Kuranda & Federico Mingozzi. 2017. Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders. Safety and Efficacy of Gene-Based Therapeutics for Inherited Disorders 77 112 .
Philipp Odermatt, Judith Trüb, Lavinia Furrer, Roger Fricker, Andreas Marti & Daniel Schümperli. (2016) Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing. Molecular Therapy 24:10, pages 1797-1805.
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Rebecca R. Moultrie, Julia Kish‐Doto, Holly Peay & Megan A. Lewis. (2016) A Review on Spinal Muscular Atrophy: Awareness, Knowledge, and Attitudes. Journal of Genetic Counseling 25:5, pages 892-900.
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Heidi R. Fuller, Thomas H. Gillingwater & Thomas M. Wishart. (2016) Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscular Disorders 26:9, pages 560-569.
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Seyyedmohsen Hosseinibarkooie, Miriam Peters, Laura Torres-Benito, Raphael H. Rastetter, Kristina Hupperich, Andrea Hoffmann, Natalia Mendoza-Ferreira, Anna Kaczmarek, Eva Janzen, Janine Milbradt, Tobias Lamkemeyer, Frank Rigo, C. Frank Bennett, Christoph Guschlbauer, Ansgar Büschges, Matthias Hammerschmidt, Markus Riessland, Min Jeong Kye, Christoph S. Clemen & Brunhilde Wirth. (2016) The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. The American Journal of Human Genetics 99:3, pages 647-665.
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Rachael A. Powis, Evangelia Karyka, Penelope Boyd, Julien Côme, Ross A. Jones, Yinan Zheng, Eva Szunyogova, Ewout J.N. Groen, Gillian Hunter, Derek Thomson, Thomas M. Wishart, Catherina G. Becker, Simon H. Parson, Cécile Martinat, Mimoun Azzouz & Thomas H. Gillingwater. (2016) Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy. JCI Insight 1:11.
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Gillian Hunter, Rachael A. Powis, Ross A. Jones, Ewout J.N. Groen, Hannah K. Shorrock, Fiona M. Lane, Yinan Zheng, Diane L. Sherman, Peter J. Brophy & Thomas H. Gillingwater. (2016) Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy. Human Molecular Genetics, pages ddw141.
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Bo Bao, Rika Maruyama & Toshifumi Yokota. (2016) Targeting mRNA for the treatment of facioscapulohumeral muscular dystrophy. Intractable & Rare Diseases Research 5:3, pages 168-176.
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Delphine Bohl. (2016) Les cellules neuronales dérivées des cellules souches pluripotentes induites humaines : modélisation des maladies du motoneurone. Biologie Aujourd'hui 210:1, pages 27-36.
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