{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T14:44:12Z","timestamp":1791384252062,"version":"4.3.3"},"reference-count":155,"publisher":"The Company of Biologists","issue":"9","license":[{"start":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:00:00Z","timestamp":1696291200000},"content-version":"vor","delay-in-days":32,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100013428","name":"Stichting Spieren voor Spieren","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100013428","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100010665","name":"H2020 Marie Sk\u0142odowska-Curie Actions","doi-asserted-by":"crossref","award":["956185"],"award-info":[{"award-number":["956185"]}],"id":[{"id":"10.13039\/100010665","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"crossref","award":["W.OB21-01"],"award-info":[{"award-number":["W.OB21-01"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA) is a severe, monogenetic, neuromuscular disease. A thorough understanding of its genetic cause and the availability of robust models has led to the development and approval of three gene-targeting therapies. This is a unique and exciting development for the field of neuromuscular diseases, many of which remain untreatable. The development of therapies for SMA not only opens the door to future therapeutic possibilities for other genetic neuromuscular diseases, but also informs us about the limitations of such treatments. For example, treatment response varies widely and, for many patients, significant disability remains. Currently available SMA models best recapitulate the severe types of SMA, and these models are genetically and phenotypically more homogeneous than patients. Furthermore, treating patients is leading to a shift in phenotypes with increased variability in SMA clinical presentation. Therefore, there is a need to generate model systems that better reflect these developments. Here, we will first discuss current animal models of SMA and their limitations. Next, we will discuss the characteristics required to future-proof models to assist the field in the development of additional, novel therapies for SMA.<\/jats:p>","DOI":"10.1242\/dmm.050352","type":"journal-article","created":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:02:07Z","timestamp":1696323727000},"source":"Crossref","is-referenced-by-count":14,"title":["Innovating spinal muscular atrophy models in the therapeutic era"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8314-651X","authenticated-orcid":false,"given":"Ilaria","family":"Signoria","sequence":"first","affiliation":[{"name":"UMC Utrecht Brain Center, University Medical Center Utrecht Department of Neurology and Neurosurgery , , 3584 CX Utrecht , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8970-2740","authenticated-orcid":false,"given":"W. Ludo","family":"van der Pol","sequence":"additional","affiliation":[{"name":"UMC Utrecht Brain Center, University Medical Center Utrecht Department of Neurology and Neurosurgery , , 3584 CX Utrecht , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2330-9444","authenticated-orcid":false,"given":"Ewout J. N.","family":"Groen","sequence":"additional","affiliation":[{"name":"UMC Utrecht Brain Center, University Medical Center Utrecht Department of Neurology and Neurosurgery , , 3584 CX Utrecht , the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,10,3]]},"reference":[{"key":"2023100313014826400_DMM050352C1","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1007\/s12015-019-09910-6","article-title":"Spinal muscular atrophy modeling and treatment advances by induced pluripotent stem cells studies","volume":"15","author":"Adami","year":"2019","journal-title":"Stem. Cell Rev. Rep."},{"key":"2023100313014826400_DMM050352C2","doi-asserted-by":"publisher","first-page":"10337","DOI":"10.1073\/pnas.1104928108","article-title":"Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits","volume":"108","author":"Akten","year":"2011","journal-title":"Proc. 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