{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T16:09:34Z","timestamp":1788797374328,"version":"build-2803163510"},"reference-count":90,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:00Z","timestamp":1770336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100020796","name":"SMA Europe","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020796","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016394","name":"ANR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100016394","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA) is due to a deficit in SMN, a ubiquitously expressed protein encoded by the Survival of Motor Neuron 1 (SMN1) gene. Recently, SMN-targeted disease-modifying treatments have greatly improved the clinical outcomes of this neuromuscular disease. However, uncertainties remain regarding their long-term efficacy and non-neuronal tissue involvement in disease progression. Skeletal muscle tissue and the muscle stem cells (MuSC) that sustain its postnatal growth and regenerative capacity are affected by SMN deficit. While a direct contribution of muscle tissue in the disease progression has been demonstrated, the extent to which MuSC are involved in this process remains to be established.<\/jats:p>\n                  <jats:p>Using SMA type II patient muscle biopsies and several mutant mouse models, we performed an accurate study of SMN role in MuSC function during postnatal growth and adulthood.<\/jats:p>\n                  <jats:p>We found that SMA type II patient muscles display a reduced number of quiescent PAX7+ MuSC. In SMA mice, we showed that SMN is an important regulator of myogenic progenitor fate during early postnatal growth, and that SMN deficit compromises MuSC reservoir establishment. In Pax7 Cre-driven conditional knockout mouse models, we demonstrated that deletion of a single Smn allele is sufficient to induce quiescent MuSC apoptosis in adult muscle, showing that high levels of SMN are required for the maintenance of the quiescent MuSC reservoir. We further established that depletion of MuSC yielded neuromuscular junction remodelling followed by a non-cell autonomous loss of part of the alpha motor neurons (MN) in the long term.<\/jats:p>\n                  <jats:p>Overall, our findings demonstrate an interdependence between quiescent MuSC and the MN reservoirs, supporting that MuSC may be important therapeutic targets for the long-term treatment of SMA. Moreover, we provide important insights into the specific SMN requirements of MuSC, which could be valuable for to the development of next-generation combinatorial therapies.<\/jats:p>","DOI":"10.1093\/brain\/awag045","type":"journal-article","created":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T12:38:51Z","timestamp":1770295131000},"page":"3182-3196","source":"Crossref","is-referenced-by-count":4,"title":["Targeted knockdown of\n                    <i>Smn<\/i>\n                    in muscle stem cells induces non-cell autonomous loss of motor neurons"],"prefix":"10.1093","volume":"149","author":[{"given":"Jordan","family":"Mecca","sequence":"first","affiliation":[{"name":"Center for Research in Myology, Sorbonne University, INSERM, UMRS974 , Paris F-75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Mignot","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Gervais","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teoman","family":"Ozturk","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Astord","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne University, INSERM, UMRS974 , Paris F-75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Berthier","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Bauch\u00e9","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne University, INSERM, UMRS974 , Paris F-75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Mess\u00e9ant","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne University, INSERM, UMRS974 , Paris F-75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria G","family":"Biferi","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne University, INSERM, UMRS974 , Paris F-75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Rouard","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]},{"name":"AP-HP, Mondor Hospital, Histology Service , Creteil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Barkats","sequence":"additional","affiliation":[{"name":"Center for Research in Myology, Sorbonne University, INSERM, UMRS974 , Paris F-75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Relaix","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]},{"name":"AP-HP, Mondor Hospital, Histology Service , Creteil F-94010 ,","place":["France"]},{"name":"EnvA, IMRB , Maisons-Alfort F-94700 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4144-7581","authenticated-orcid":false,"given":"Nathalie","family":"Didier","sequence":"additional","affiliation":[{"name":"INSERM, Univ Paris Est Creteil, EFS, IMRB , Creteil F-94010 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,2,6]]},"reference":[{"key":"2026090711271560800_awag045-B1","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin"},{"key":"2026090711271560800_awag045-B2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"2026090711271560800_awag045-B3","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene 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phenotype","volume":"61","author":"Campbell","year":"1997","journal-title":"Am J Hum Genet."},{"key":"2026090711271560800_awag045-B7","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord."},{"key":"2026090711271560800_awag045-B8","first-page":"S3","article-title":"Gene therapy for spinal muscular atrophy: An emerging treatment option for a devastating disease","volume":"24","author":"Rao","year":"2018","journal-title":"J Manag Care Spec Pharm"},{"key":"2026090711271560800_awag045-B9","doi-asserted-by":"crossref","first-page":"72ra18","DOI":"10.1126\/scitranslmed.3001777","article-title":"Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular 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