{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:06:55Z","timestamp":1791558415213,"version":"4.3.4"},"reference-count":211,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2022,9,17]],"date-time":"2022-09-17T00:00:00Z","timestamp":1663372800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"German Research Foundation","award":["398410809"],"award-info":[{"award-number":["398410809"]}]},{"name":"German Research Foundation","award":["384170921"],"award-info":[{"award-number":["384170921"]}]},{"name":"German Research Foundation","award":["417989143"],"award-info":[{"award-number":["417989143"]}]},{"name":"German Research Foundation","award":["431549029\u2014A01"],"award-info":[{"award-number":["431549029\u2014A01"]}]},{"name":"German Research Foundation","award":["233886668"],"award-info":[{"award-number":["233886668"]}]},{"name":"German Research Foundation","award":["956185"],"award-info":[{"award-number":["956185"]}]},{"name":"German Research Foundation","award":["C18"],"award-info":[{"award-number":["C18"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["398410809"],"award-info":[{"award-number":["398410809"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["384170921"],"award-info":[{"award-number":["384170921"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["417989143"],"award-info":[{"award-number":["417989143"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["431549029\u2014A01"],"award-info":[{"award-number":["431549029\u2014A01"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["233886668"],"award-info":[{"award-number":["233886668"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["956185"],"award-info":[{"award-number":["956185"]}]},{"name":"the European Union\u2019s Horizon 2020 Marie Sk\u0142odowska-Curie","award":["C18"],"award-info":[{"award-number":["C18"]}]},{"name":"Center for Molecular Medicine Cologne","award":["398410809"],"award-info":[{"award-number":["398410809"]}]},{"name":"Center for Molecular Medicine Cologne","award":["384170921"],"award-info":[{"award-number":["384170921"]}]},{"name":"Center for Molecular Medicine Cologne","award":["417989143"],"award-info":[{"award-number":["417989143"]}]},{"name":"Center for Molecular Medicine Cologne","award":["431549029\u2014A01"],"award-info":[{"award-number":["431549029\u2014A01"]}]},{"name":"Center for Molecular Medicine Cologne","award":["233886668"],"award-info":[{"award-number":["233886668"]}]},{"name":"Center for Molecular Medicine Cologne","award":["956185"],"award-info":[{"award-number":["956185"]}]},{"name":"Center for Molecular Medicine Cologne","award":["C18"],"award-info":[{"award-number":["C18"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by recessive mutations in the SMN1 gene, globally affecting ~8\u201314 newborns per 100,000. The severity of the disease depends on the residual levels of functional survival of motor neuron protein, SMN. SMN is a ubiquitously expressed RNA binding protein involved in a plethora of cellular processes. In this review, we discuss the effects of SMN loss on mitochondrial functions in the neuronal and muscular systems that are the most affected in patients with spinal muscular atrophy. Our aim is to highlight how mitochondrial defects may contribute to disease progression and how restoring mitochondrial functionality may be a promising approach to develop new therapies. We also collected from previous studies a list of transcripts encoding mitochondrial proteins affected in various SMA models. Moreover, we speculate that in adulthood, when motor neurons require only very low SMN levels, the natural deterioration of mitochondria associated with aging may be a crucial triggering factor for adult spinal muscular atrophy, and this requires particular attention for therapeutic strategies.<\/jats:p>","DOI":"10.3390\/ijms231810878","type":"journal-article","created":{"date-parts":[[2022,9,18]],"date-time":"2022-09-18T23:39:22Z","timestamp":1663544362000},"page":"10878","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Mitochondrial Dysfunction in Spinal Muscular Atrophy"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4356-7675","authenticated-orcid":false,"given":"Eleonora","family":"Zilio","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Hospital of Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9539-561X","authenticated-orcid":false,"given":"Valentina","family":"Piano","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital of Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Institute for Genetics, University of Cologne, 50674 Cologne, Germany"},{"name":"Center for Rare Diseases, University Hospital of Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4051-5191","authenticated-orcid":false,"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital of Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany"},{"name":"Institute for Genetics, University of Cologne, 50674 Cologne, Germany"},{"name":"Center for Rare Diseases, University Hospital of Cologne, University of Cologne, 50931 Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","article-title":"Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next","volume":"21","author":"Wirth","year":"2020","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.pediatrneurol.2020.01.003","article-title":"Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease","volume":"109","author":"Yeo","year":"2020","journal-title":"Pediatr. Neurol."},{"key":"ref_5","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":"ref_6","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldkotter","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"3426","DOI":"10.1073\/pnas.0700343104","article-title":"An intronic element contributes to splicing repression in spinal muscular atrophy","volume":"104","author":"Kashima","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0598-63","article-title":"SMN oligomerization defect correlates with spinal muscular atrophy severity","volume":"19","author":"Lorson","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"4817","DOI":"10.1172\/JCI124120","article-title":"Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment","volume":"129","author":"Ramos","year":"2019","journal-title":"J. Clin. Invest."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.tins.2020.11.009","article-title":"Spinal Muscular Atrophy: In the Challenge Lies a Solution","volume":"44","author":"Wirth","year":"2021","journal-title":"Trends Neurosci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","article-title":"Spinal muscular atrophy\u2014Insights and challenges in the treatment era","volume":"16","author":"Mercuri","year":"2020","journal-title":"Nat. Rev. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13023-021-01783-8","article-title":"Newborn screening for spinal muscular atrophy in Germany: Clinical results after 2 years","volume":"16","author":"Vill","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: A phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1056\/NEJMoa2009965","article-title":"Risdiplam in Type 1 Spinal Muscular Atrophy","volume":"384","author":"Baranello","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J. Med. Chem."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat. Biotechnol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/nature10485","article-title":"Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model","volume":"478","author":"Hua","year":"2011","journal-title":"Nature"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/hmg\/7.10.1531","article-title":"The role of the SMN gene in proximal spinal muscular atrophy","volume":"7","author":"Lefebvre","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/hmg\/6.8.1205","article-title":"The survival motor neuron protein in spinal muscular atrophy","volume":"6","author":"Coovert","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.bbagrm.2016.12.008","article-title":"Diverse role of survival motor neuron protein","volume":"1860","author":"Singh","year":"2017","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nrneurol.2018.4","article-title":"Advances in therapy for spinal muscular atrophy: Promises and challenges","volume":"14","author":"Groen","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.spen.2006.06.008","article-title":"Spinal muscular atrophy: From gene to therapy","volume":"13","author":"Wirth","year":"2006","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1007\/s00018-015-2084-y","article-title":"Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals","volume":"73","author":"Heesen","year":"2016","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ajhg.2017.01.005","article-title":"Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis","volume":"100","author":"Riessland","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"5275","DOI":"10.1007\/s00018-021-03843-5","article-title":"Plastin 3 in health and disease: A matter of balance","volume":"78","author":"Wolff","year":"2021","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1042\/bj3630599","article-title":"Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: Interaction with actin, clathrin and tubulin","volume":"363","author":"Ivings","year":"2002","journal-title":"Biochem. J."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ajhg.2016.07.014","article-title":"The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype","volume":"99","author":"Hosseinibarkooie","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Dimitriadi, M., Sleigh, J.N., Walker, A., Chang, H.C., Sen, A., Kalloo, G., Harris, J., Barsby, T., Walsh, M.B., and Satterlee, J.S. (2010). Conserved genes act as modifiers of invertebrate SMN loss of function defects. PLoS Genet., 6.","DOI":"10.1371\/journal.pgen.1001172"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Walsh, M.B., Janzen, E., Wingrove, E., Hosseinibarkooie, S., Muela, N.R., Davidow, L., Dimitriadi, M., Norabuena, E.M., Rubin, L.L., and Wirth, B. (2020). Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy. BMC Biol., 18.","DOI":"10.1186\/s12915-020-00845-w"},{"key":"ref_35","unstructured":"Paushkin, S., and Ko, C.-P. (2017). Spinal Muscular Atrophy Disease Modifiers A2. Spinal Muscular Atrophy, Academic Press. Chapter 12."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/humu.24181","article-title":"Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease","volume":"42","author":"Keller","year":"2021","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Jankovic, M., Novakovic, I., Gamil Anwar Dawod, P., Gamil Anwar Dawod, A., Drinic, A., Abdel Motaleb, F.I., Ducic, S., and Nikolic, D. (2021). Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22189832"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1007\/s13311-021-01099-2","article-title":"Axonal Charcot-Marie-Tooth Disease: From Common Pathogenic Mechanisms to Emerging Treatment Opportunities","volume":"18","author":"McCray","year":"2021","journal-title":"Neurotherapeutics"},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Canto-Santos, J., Grau-Junyent, J.M., and Garrabou, G. (2020). The Impact of Mitochondrial Deficiencies in Neuromuscular Diseases. Antioxidants, 9.","DOI":"10.3390\/antiox9100964"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1097\/00004647-200110000-00001","article-title":"An energy budget for signaling in the grey matter of the brain","volume":"21","author":"Attwell","year":"2001","journal-title":"J. Cereb. Blood Flow Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/nrn.2017.170","article-title":"Mitochondria at the neuronal presynapse in health and disease","volume":"19","author":"Devine","year":"2018","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.conb.2019.01.015","article-title":"Surveillance and transportation of mitochondria in neurons","volume":"57","author":"Vanhauwaert","year":"2019","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/dneu.22546","article-title":"The role of mitochondria in axon development and regeneration","volume":"78","author":"Smith","year":"2018","journal-title":"Dev. Neurobiol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"858340","DOI":"10.3389\/fnsyn.2022.858340","article-title":"Presynaptic Mitochondria Communicate With Release Sites for Spatio-Temporal Regulation of Exocytosis at the Motor Nerve Terminal","volume":"14","author":"Tabares","year":"2022","journal-title":"Front. Synaptic. Neurosci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.cell.2018.12.013","article-title":"Spatially Stable Mitochondrial Compartments Fuel Local Translation during Plasticity","volume":"176","author":"Rangaraju","year":"2019","journal-title":"Cell"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.cell.2016.05.029","article-title":"Dynamic Axonal Translation in Developing and Mature Visual Circuits","volume":"166","author":"Shigeoka","year":"2016","journal-title":"Cell"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.cell.2011.11.064","article-title":"Local translation of extranuclear lamin B promotes axon maintenance","volume":"148","author":"Yoon","year":"2012","journal-title":"Cell"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.cell.2018.11.030","article-title":"Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons","volume":"176","author":"Cioni","year":"2019","journal-title":"Cell"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1212\/WNL.0000000000200233","article-title":"What Is the Role of Mitochondrial Fission in Neurologic Disease?","volume":"98","author":"Benarroch","year":"2022","journal-title":"Neurology"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/cne.20682","article-title":"Mitochondria form a filamentous reticular network in hippocampal dendrites but are present as discrete bodies in axons: A three-dimensional ultrastructural study","volume":"492","author":"Popov","year":"2005","journal-title":"J. Comp. Neurol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"5008","DOI":"10.1038\/s41467-018-07416-2","article-title":"MFF-dependent mitochondrial fission regulates presynaptic release and axon branching by limiting axonal mitochondria size","volume":"9","author":"Lewis","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"654785","DOI":"10.3389\/fnins.2021.654785","article-title":"Mitochondrial Dynamics: A Key Role in Neurodegeneration and a Potential Target for Neurodegenerative Disease","volume":"15","author":"Yang","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s00401-007-0327-1","article-title":"Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy","volume":"115","author":"Simic","year":"2008","journal-title":"Acta Neuropathol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1097\/NEN.0000000000000144","article-title":"Spectrum of neuropathophysiology in spinal muscular atrophy type I","volume":"74","author":"Harding","year":"2015","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1440-1789.2008.00910.x","article-title":"An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)","volume":"29","author":"Kuru","year":"2009","journal-title":"Neuropathology"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/path.4080","article-title":"Synaptic defects in type I spinal muscular atrophy in human development","volume":"229","author":"Bernal","year":"2013","journal-title":"J. Pathol."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Custer, S.K., Gilson, T.D., Li, H., Todd, A.G., Astroski, J.W., Lin, H., Liu, Y., and Androphy, E.J. (2016). Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0163954"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"7907","DOI":"10.1038\/s41598-018-26347-y","article-title":"Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy","volume":"8","author":"Goncalves","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J. Cell Biol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1523\/JNEUROSCI.3631-10.2011","article-title":"The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons","volume":"31","author":"Fallini","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_61","doi-asserted-by":"crossref","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. Natl. Acad. Sci. USA"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1083\/jcb.200703187","article-title":"Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy","volume":"179","author":"Jablonka","year":"2007","journal-title":"J. Cell Biol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1523\/JNEUROSCI.2396-15.2016","article-title":"Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons","volume":"36","author":"Fallini","year":"2016","journal-title":"J. Neurosci."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/j.celrep.2017.10.010","article-title":"In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology","volume":"21","author":"Bernabo","year":"2017","journal-title":"Cell Rep."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"E4377","DOI":"10.1073\/pnas.1600015113","article-title":"Decreased function of survival motor neuron protein impairs endocytic pathways","volume":"113","author":"Dimitriadi","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1093\/hmg\/ddq058","article-title":"Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy","volume":"19","author":"Wen","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Torres-Benito, L., Neher, M.F., Cano, R., Ruiz, R., and Tabares, L. (2011). SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0026164"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1177\/1073858417705059","article-title":"The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?","volume":"24","author":"Hensel","year":"2018","journal-title":"Neuroscientist"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"3395","DOI":"10.1093\/hmg\/ddw262","article-title":"Motor neuron mitochondrial dysfunction in spinal muscular atrophy","volume":"25","author":"Miller","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.mcn.2015.11.007","article-title":"Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice","volume":"70","author":"Neve","year":"2016","journal-title":"Mol. Cell Neurosci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1007\/s00702-021-02353-9","article-title":"Ultrastructural characterization of peripheral denervation in a mouse model of Type III spinal muscular atrophy","volume":"128","author":"Fulceri","year":"2021","journal-title":"J. Neural Transm."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1093\/hmg\/ddn156","article-title":"Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy","volume":"17","author":"Kariya","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.nmd.2010.06.010","article-title":"Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing","volume":"20","author":"Voigt","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1242\/dmm.021766","article-title":"Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy","volume":"9","author":"Xu","year":"2016","journal-title":"Dis. Models Mech."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1186\/s40478-020-01101-6","article-title":"Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons","volume":"8","author":"Thelen","year":"2020","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"e201800268","DOI":"10.26508\/lsa.201800268","article-title":"Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology","volume":"2","author":"Wang","year":"2019","journal-title":"Life Sci. Alliance"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"26185","DOI":"10.1074\/jbc.M503062200","article-title":"Disruption of fusion results in mitochondrial heterogeneity and dysfunction","volume":"280","author":"Chen","year":"2005","journal-title":"J Biol. Chem."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1038\/emboj.2008.35","article-title":"Dimer ribbons of ATP synthase shape the inner mitochondrial membrane","volume":"27","author":"Strauss","year":"2008","journal-title":"EMBO J."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/S1534-5807(01)00055-7","article-title":"The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis","volume":"1","author":"Frank","year":"2001","journal-title":"Dev. Cell"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1159\/000046874","article-title":"Structural changes of mitochondria related to apoptosis","volume":"10","author":"Wakabayashi","year":"2001","journal-title":"Biol. Signals Recept."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1093\/jnen\/59.5.398","article-title":"Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease","volume":"59","author":"Simic","year":"2000","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"3223","DOI":"10.1038\/s41419-017-0086-4","article-title":"Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy","volume":"8","author":"Piras","year":"2017","journal-title":"Cell Death Dis."},{"key":"ref_83","doi-asserted-by":"crossref","unstructured":"Sareen, D., Ebert, A.D., Heins, B.M., McGivern, J.V., Ornelas, L., and Svendsen, C.N. (2012). Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0039113"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"17038","DOI":"10.1038\/sigtrans.2017.38","article-title":"Phosphatase and tensin homologue: A therapeutic target for SMA","volume":"2","author":"Godena","year":"2017","journal-title":"Signal Transduct. Target. Ther."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ejphar.2017.08.005","article-title":"Edaravone is a candidate agent for spinal muscular atrophy: In vitro analysis using a human induced pluripotent stem cells-derived disease model","volume":"814","author":"Ando","year":"2017","journal-title":"Eur. J. Pharmacol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1523\/JNEUROSCI.4434-08.2009","article-title":"Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice","volume":"29","author":"Kong","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"3935","DOI":"10.1093\/hmg\/ddaa275","article-title":"Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy","volume":"29","author":"Bora","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/nature05292","article-title":"Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases","volume":"443","author":"Lin","year":"2006","journal-title":"Nature"},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Boyd, P.J., Tu, W.Y., Shorrock, H.K., Groen, E.J.N., Carter, R.N., Powis, R.A., Thomson, S.R., Thomson, D., Graham, L.C., and Motyl, A.A.L. (2017). Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. PLoS Genet., 13.","DOI":"10.1371\/journal.pgen.1006744"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"2748","DOI":"10.1002\/jnr.22106","article-title":"Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy","volume":"87","author":"Acsadi","year":"2009","journal-title":"J. Neurosci. Res."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.neuron.2016.12.020","article-title":"GLUT4 Mobilization Supports Energetic Demands of Active Synapses","volume":"93","author":"Ashrafi","year":"2017","journal-title":"Neuron"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1093\/hmg\/ddv489","article-title":"SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons","volume":"25","author":"Patitucci","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1196\/annals.1427.002","article-title":"Oxidative stress and energy crises in neuronal dysfunction","volume":"1147","author":"Nicholls","year":"2008","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/S0387-7604(02)00103-1","article-title":"Oxidative stress and disturbed glutamate transport in spinal muscular atrophy","volume":"24","author":"Hayashi","year":"2002","journal-title":"Brain Dev."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/cr.2012.166","article-title":"Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy","volume":"23","author":"Wang","year":"2013","journal-title":"Cell Res."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1016\/j.yjmcc.2012.01.005","article-title":"Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy","volume":"52","author":"Shababi","year":"2012","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1093\/hmg\/ddab065","article-title":"Calcium is reduced in presynaptic mitochondria of motor nerve terminals during neurotransmission in SMA mice","volume":"30","author":"Tejero","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"98","DOI":"10.2144\/000113610","article-title":"Mitochondrial membrane potential probes and the proton gradient: A practical usage guide","volume":"50","author":"Perry","year":"2011","journal-title":"Biotechniques"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.yjmcc.2014.09.023","article-title":"The mitochondrial permeability transition pore: Molecular nature and role as a target in cardioprotection","volume":"78","author":"Bernardi","year":"2015","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1152\/physrev.00013.2006","article-title":"Mitochondrial membrane permeabilization in cell death","volume":"87","author":"Kroemer","year":"2007","journal-title":"Physiol. Rev."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"e2749","DOI":"10.1038\/cddis.2017.139","article-title":"The suppression of apoptosis by alpha-herpesvirus","volume":"8","author":"You","year":"2017","journal-title":"Cell Death Dis."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF03033366","article-title":"Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy","volume":"13","author":"Parker","year":"2008","journal-title":"Neurotox. Res."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.brainres.2007.09.025","article-title":"Knockdown of SMN by RNA interference induces apoptosis in differentiated P19 neural stem cells","volume":"1183","author":"Trulzsch","year":"2007","journal-title":"Brain Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.stem.2015.08.003","article-title":"Genome-wide RNA-Seq of Human Motor Neurons Implicates Selective ER Stress Activation in Spinal Muscular Atrophy","volume":"17","author":"Ng","year":"2015","journal-title":"Cell Stem Cell"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/37144","article-title":"Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy","volume":"390","author":"Iwahashi","year":"1997","journal-title":"Nature"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1038\/sj.cdd.4400660","article-title":"Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product","volume":"7","author":"Sato","year":"2000","journal-title":"Cell Death Differ."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2852","DOI":"10.1074\/jbc.M108769200","article-title":"A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy","volume":"277","author":"Young","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","article-title":"The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy","volume":"80","author":"Roy","year":"1995","journal-title":"Cell"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1007\/s11064-019-02814-4","article-title":"The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model","volume":"44","author":"Ando","year":"2019","journal-title":"Neurochem. Res."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1261\/rna.047373.114","article-title":"Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation","volume":"20","author":"Saal","year":"2014","journal-title":"RNA"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/nature16469","article-title":"SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination","volume":"529","author":"Zhao","year":"2016","journal-title":"Nature"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/dneu.22111","article-title":"Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons","volume":"74","author":"Fallini","year":"2014","journal-title":"Dev. Neurobiol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/s41556-020-00577-7","article-title":"SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy","volume":"22","author":"Lauria","year":"2020","journal-title":"Nat. Cell Biol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1261\/rna.040204.113","article-title":"Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization","volume":"19","author":"Rage","year":"2013","journal-title":"RNA"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"5111","DOI":"10.1038\/s41467-018-07676-y","article-title":"Subcellular connectomic analyses of energy networks in striated muscle","volume":"9","author":"Bleck","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"757305","DOI":"10.3389\/fcell.2021.757305","article-title":"Subcellular Specialization of Mitochondrial Form and Function in Skeletal Muscle Cells","volume":"9","author":"Willingham","year":"2021","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.celrep.2019.03.051","article-title":"Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network","volume":"27","author":"Vincent","year":"2019","journal-title":"Cell Rep."},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Kuznetsov, A.V., Javadov, S., Margreiter, R., Hagenbuchner, J., and Ausserlechner, M.J. (2022). Analysis of Mitochondrial Function, Structure, and Intracellular Organization In Situ in Cardiomyocytes and Skeletal Muscles. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23042252"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"C913","DOI":"10.1152\/ajpcell.00065.2022","article-title":"Regulatory networks coordinating mitochondrial quality control in skeletal muscle","volume":"322","author":"Slavin","year":"2022","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_120","doi-asserted-by":"crossref","unstructured":"Leduc-Gaudet, J.P., Hussain, S.N.A., Barreiro, E., and Gouspillou, G. (2021). Mitochondrial Dynamics and Mitophagy in Skeletal Muscle Health and Aging. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22158179"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"C423","DOI":"10.1152\/ajpcell.2000.278.2.C423","article-title":"Ca(2+) activation of heart mitochondrial oxidative phosphorylation: Role of the F(0)\/F(1)-ATPase","volume":"278","author":"Territo","year":"2000","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_122","doi-asserted-by":"crossref","unstructured":"Michelucci, A., Liang, C., Protasi, F., and Dirksen, R.T. (2021). Altered Ca(2+) Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease. Metabolites, 11.","DOI":"10.3390\/metabo11070424"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"166063","DOI":"10.1016\/j.bbadis.2020.166063","article-title":"Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes","volume":"1867","author":"Singh","year":"2021","journal-title":"Biochim. Biophys. Acta-Mol. Basis Dis."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ydbio.2012.05.037","article-title":"A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein","volume":"368","author":"Hayhurst","year":"2012","journal-title":"Dev. Biol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13395-020-00232-7","article-title":"SMN-deficiency disrupts SERCA2 expression and intracellular Ca(2+) signaling in cardiomyocytes from SMA mice and patient-derived iPSCs","volume":"10","author":"Khayrullina","year":"2020","journal-title":"Skelet. Muscle"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/BF00339688","article-title":"CT muscle scanning in the evaluation of patients with spinal muscular atrophy (SMA)","volume":"30","author":"Sambrook","year":"1988","journal-title":"Neuroradiology"},{"key":"ref_127","doi-asserted-by":"crossref","unstructured":"Millino, C., Fanin, M., Vettori, A., Laveder, P., Mostacciuolo, M.L., Angelini, C., and Lanfranchi, G. (2009). Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy. BMC Med., 7.","DOI":"10.1186\/1741-7015-7-14"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/hmg\/ddr453","article-title":"Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy","volume":"21","author":"Ling","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.brainres.2011.12.056","article-title":"Motor neuron pathology and behavioral alterations at late stages in a SMA mouse model","volume":"1442","author":"Fulceri","year":"2012","journal-title":"Brain Res."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/ddi168","article-title":"Gemins modulate the expression and activity of the SMN complex","volume":"14","author":"Feng","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.yexcr.2005.08.019","article-title":"Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology","volume":"311","author":"Shafey","year":"2005","journal-title":"Exp. Cell Res."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"4249","DOI":"10.1093\/hmg\/ddu142","article-title":"Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy","volume":"23","author":"Boyer","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"4745","DOI":"10.1093\/hmg\/ddu189","article-title":"Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics","volume":"23","author":"Bricceno","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1172\/JCI131989","article-title":"Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models","volume":"130","author":"Kim","year":"2020","journal-title":"J. Clin. Investig."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/ddm379","article-title":"Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect","volume":"17","author":"Gavrilina","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: Going beyond the motor neuron","volume":"19","author":"Hamilton","year":"2013","journal-title":"Trends Mol. Med."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.cbd.2013.06.002","article-title":"Molecular evolution of the moonlighting protein SMN in metazoans","volume":"8","author":"Stump","year":"2013","journal-title":"Comp. Biochem. Physiol. Part D Genomics Proteomics"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"9472","DOI":"10.1038\/s41598-019-45822-8","article-title":"Functional characterization of SMN evolution in mouse models of SMA","volume":"9","author":"Osman","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1136\/jnnp.43.6.546","article-title":"Mitochondrial functions in chronic spinal muscular atrophy","volume":"43","author":"Gobernado","year":"1980","journal-title":"J. Neurol. Neurosurg. Psychiatry."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/S0387-7604(12)80315-9","article-title":"Secondarily reduced cytochrome c oxidase activity in various neuromuscular disorders","volume":"12","author":"Ohtaki","year":"1990","journal-title":"Brain Dev."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/0887-8994(96)00118-X","article-title":"Mitochondrial myopathy simulating spinal muscular atrophy","volume":"15","author":"Pons","year":"1996","journal-title":"Pediatr. Neurol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1023\/A:1006880529195","article-title":"High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders","volume":"174","author":"Sperl","year":"1997","journal-title":"Mol. Cell Biochem."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0022-510X(99)00236-1","article-title":"Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis","volume":"169","author":"Vielhaber","year":"1999","journal-title":"J. Neurol. Sci."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.jocn.2004.06.014","article-title":"Mitochondrial respiratory chain dysfunction in various neuromuscular diseases","volume":"12","author":"Jongpiputvanich","year":"2005","journal-title":"J. Clin. Neurosci."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/jamaneurol.2015.0178","article-title":"Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy","volume":"72","author":"Ripolone","year":"2015","journal-title":"JAMA Neurol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s00401-002-0638-1","article-title":"Severe depletion of mitochondrial DNA in spinal muscular atrophy","volume":"105","author":"Berger","year":"2003","journal-title":"Acta Neuropathol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddq300","article-title":"Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery","volume":"19","author":"Bevan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1093\/hmg\/ddx418","article-title":"Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model","volume":"27","author":"Sheng","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1146\/annurev-pathmechdis-012419-032711","article-title":"Mitochondrial Dynamics and Its Involvement in Disease","volume":"15","author":"Chan","year":"2020","journal-title":"Annu. Rev. Pathol."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.mcn.2009.05.009","article-title":"SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis","volume":"42","author":"Bowerman","year":"2009","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"37908","DOI":"10.1074\/jbc.274.53.37908","article-title":"A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems","volume":"274","author":"Giesemann","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/11.14.1605","article-title":"Survival motor neuron (SMN) protein: Role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development","volume":"11","author":"Fan","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1242\/dev.152025","article-title":"The secreted MSP domain of C. elegans VAPB homolog VPR-1 patterns the adult striated muscle mitochondrial reticulum via SMN-1","volume":"144","author":"Schultz","year":"2017","journal-title":"Development"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1371\/journal.pbio.0030383","article-title":"Mechanism of filament nucleation and branch stability revealed by the structure of the Arp2\/3 complex at actin branch junctions","volume":"3","author":"Egile","year":"2005","journal-title":"PLoS Biol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"12886","DOI":"10.1038\/ncomms12886","article-title":"Dynamic actin cycling through mitochondrial subpopulations locally regulates the fission-fusion balance within mitochondrial networks","volume":"7","author":"Moore","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1242\/jcs.01698","article-title":"Actin-filament cross-linking protein T-plastin increases Arp2\/3-mediated actin-based movement","volume":"118","author":"Giganti","year":"2005","journal-title":"J. Cell Sci."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1083\/jcb.200610053","article-title":"A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle","volume":"176","author":"Rajendra","year":"2007","journal-title":"J. Cell Biol."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"3399","DOI":"10.1093\/hmg\/ddn234","article-title":"SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain","volume":"17","author":"Walker","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s00441-020-03236-3","article-title":"Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere","volume":"381","author":"Berciano","year":"2020","journal-title":"Cell Tissue Res."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.3389\/fphys.2019.01258","article-title":"Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy","volume":"10","author":"Houdebine","year":"2019","journal-title":"Front. Physiol."},{"key":"ref_161","doi-asserted-by":"crossref","unstructured":"Hellbach, N., Peterson, S., Haehnke, D., Shankar, A., LaBarge, S., Pivaroff, C., Saenger, S., Thomas, C., McCarthy, K., and Ebeling, M. (2018). Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0205589"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/978-1-0716-1091-6_15","article-title":"Oxygen Consumption Evaluation: An Important Indicator of Metabolic State, Cellular Function, and Cell Fate Along Neural Deregulation","volume":"2240","author":"Brito","year":"2021","journal-title":"Methods Mol. Biol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.jcmgh.2021.01.019","article-title":"SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease","volume":"12","author":"Deguise","year":"2021","journal-title":"Cell. Mol. Gastroenterol. Hepatol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/0140-6736(90)93426-P","article-title":"Secondary metabolic defects in spinal muscular atrophy type II","volume":"336","author":"Harpey","year":"1990","journal-title":"Lancet"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/0887-8994(94)00100-G","article-title":"Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: Primary or secondary defect(s)?","volume":"12","author":"Tein","year":"1995","journal-title":"Pediatr. Neurol."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.nmd.2021.02.002","article-title":"Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3","volume":"31","author":"Djordjevic","year":"2021","journal-title":"Neuromuscul. Disord."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.nmd.2009.03.009","article-title":"Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy","volume":"19","author":"Sproule","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1016\/j.jpeds.2015.09.023","article-title":"Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II","volume":"167","author":"Davis","year":"2015","journal-title":"J. Pediatrics"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"3432","DOI":"10.1093\/hmg\/ddu052","article-title":"Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology","volume":"23","author":"Bowerman","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.23582","article-title":"Glucose metabolism and pancreatic defects in spinal muscular atrophy","volume":"72","author":"Bowerman","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"4059","DOI":"10.1093\/hmg\/ddq329","article-title":"Cardiac defects contribute to the pathology of spinal muscular atrophy models","volume":"19","author":"Shababi","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"H1426","DOI":"10.1152\/ajpheart.00772.2018","article-title":"Mitochondrial angiotensin receptors and cardioprotective pathways","volume":"316","author":"Escobales","year":"2019","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"982794","DOI":"10.1155\/2012\/982794","article-title":"Reactive oxygen species in skeletal muscle signaling","volume":"2012","author":"Barbieri","year":"2012","journal-title":"J. Signal Transduct."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1111\/j.1749-6632.2002.tb02086.x","article-title":"The role of apoptosis in the normal aging brain, skeletal muscle, and heart","volume":"959","author":"Pollack","year":"2002","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1097\/MCO.0b013e3283368188","article-title":"Oxidative stress and muscle homeostasis","volume":"13","author":"Musaro","year":"2010","journal-title":"Curr. Opin. Clin. Nutr. Metab. Care"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/febs.14186","article-title":"Bax, Bak and beyond\u2014Mitochondrial performance in apoptosis","volume":"285","year":"2018","journal-title":"FEBS J."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1111\/1440-1681.13369","article-title":"Survival motor neuron protein protects H9c2 cardiomyocytes from hypoxia-induced cell injury by reducing apoptosis","volume":"47","author":"Zhong","year":"2020","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"key":"ref_178","doi-asserted-by":"crossref","unstructured":"Seo, J., Singh, N.N., Ottesen, E.W., Sivanesan, S., Shishimorova, M., and Singh, R.N. (2016). Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0154390"},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/s13023-017-0613-5","article-title":"Cardiac pathology in spinal muscular atrophy: A systematic review","volume":"12","author":"Wijngaarde","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"42030","DOI":"10.18632\/oncotarget.14925","article-title":"Modeling the differential phenotypes of spinal muscular atrophy with high-yield generation of motor neurons from human induced pluripotent stem cells","volume":"8","author":"Lin","year":"2017","journal-title":"Oncotarget"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1212\/WNL.52.2.383","article-title":"Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency","volume":"52","author":"Smeitink","year":"1999","journal-title":"Neurology"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/B978-0-12-385883-2.00005-9","article-title":"Biology of mitochondria in neurodegenerative diseases","volume":"107","author":"Martin","year":"2012","journal-title":"Prog. Mol. Biol. Transl. Sci."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1113\/JP278853","article-title":"Exercise and mitochondrial health","volume":"599","author":"Memme","year":"2021","journal-title":"J. Physiol."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/mus.24568","article-title":"Resistance strength training exercise in children with spinal muscular atrophy","volume":"52","author":"Lewelt","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_185","first-page":"215","article-title":"Exercise therapy for muscle and lower motor neuron diseases","volume":"38","author":"Sheikh","year":"2019","journal-title":"Acta Myol."},{"key":"ref_186","first-page":"CD012120","article-title":"Physical exercise training for type 3 spinal muscular atrophy","volume":"3","author":"Bartels","year":"2019","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1177\/0883073817750500","article-title":"Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study","volume":"33","author":"Bora","year":"2018","journal-title":"J. Child Neurol."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"4757","DOI":"10.1113\/JP278454","article-title":"Mechanisms of exercise-induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy-like mice","volume":"597","author":"Ng","year":"2019","journal-title":"J. Physiol."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"3415","DOI":"10.1093\/hmg\/ddt191","article-title":"Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation","volume":"22","author":"Farooq","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/acn3.50855","article-title":"Abnormal fatty acid metabolism is a core component of spinal muscular atrophy","volume":"6","author":"Deguise","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_191","doi-asserted-by":"crossref","unstructured":"Deguise, M.O., Chehade, L., and Kothary, R. (2021). Metabolic Dysfunction in Spinal Muscular Atrophy. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22115913"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.cmet.2018.06.011","article-title":"Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles","volume":"28","author":"Wang","year":"2018","journal-title":"Cell Metab."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"e87908","DOI":"10.1172\/jci.insight.87908","article-title":"Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy","volume":"1","author":"Powis","year":"2016","journal-title":"JCI Insight"},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1083\/jcb.201708191","article-title":"Pgam5 released from damaged mitochondria induces mitochondrial biogenesis via Wnt signaling","volume":"217","author":"Bernkopf","year":"2018","journal-title":"J. Cell Biol."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ejcb.2016.04.004","article-title":"Coronin 1C-free primary mouse fibroblasts exhibit robust rearrangements in the orientation of actin filaments, microtubules and intermediate filaments","volume":"95","author":"Behrens","year":"2016","journal-title":"Eur. J. Cell Biol."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"3885","DOI":"10.1016\/j.celrep.2019.11.058","article-title":"Stasimon Contributes to the Loss of Sensory Synapses and Motor Neuron Death in a Mouse Model of Spinal Muscular Atrophy","volume":"29","author":"Simon","year":"2019","journal-title":"Cell Rep."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.bbrc.2018.10.073","article-title":"Stasimon\/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development","volume":"506","author":"Lotti","year":"2018","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/hmg\/dds102","article-title":"The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy","volume":"21","author":"Ahmad","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_199","doi-asserted-by":"crossref","unstructured":"Chang, H.C., Dimlich, D.N., Yokokura, T., Mukherjee, A., Kankel, M.W., Sen, A., Sridhar, V., Fulga, T.A., Hart, A.C., and Van Vactor, D. (2008). Modeling spinal muscular atrophy in Drosophila. PLoS ONE, 3.","DOI":"10.1371\/journal.pone.0003209"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"109125","DOI":"10.1016\/j.celrep.2021.109125","article-title":"A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein","volume":"35","author":"McCormack","year":"2021","journal-title":"Cell Rep."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"345","DOI":"10.3390\/ph3020345","article-title":"Olesoxime (TRO19622): A Novel Mitochondrial-Targeted Neuroprotective Compound","volume":"3","author":"Bordet","year":"2010","journal-title":"Pharmaceuticals"},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.nmd.2020.10.008","article-title":"Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial","volume":"30","author":"Muntoni","year":"2020","journal-title":"Neuromuscul. Disord."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1016\/j.apsb.2022.03.001","article-title":"Mitochondria targeting drugs for neurodegenerative diseases-Design, mechanism and application","volume":"12","author":"Xu","year":"2022","journal-title":"Acta Pharm. Sin. B"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1016\/S0140-6736(95)91835-3","article-title":"Genetic basis of adult-onset spinal muscular atrophy","volume":"346","author":"Zerres","year":"1995","journal-title":"Lancet"},{"key":"ref_205","unstructured":"Van Alstyne, M., Tattoli, I., Delestree, N., Recinos, Y., Workman, E., Shihabuddin, L.S., Zhang, C., Mentis, G.Z., and Pellizzoni, L. (2020, January 11\u201314). Gain of toxic function by long-term SMN overexpression in the mouse motor circuit. Proceedings of the Cure SMA Meeting 2020, Orlando, FL, USA."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.nmd.2004.08.009","article-title":"Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit","volume":"14","author":"Anderson","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1179\/016164107X159243","article-title":"Histologic and transcriptional assessment of a mild SMA model","volume":"29","author":"Balabanian","year":"2007","journal-title":"Neurol. Res."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.ygeno.2015.01.007","article-title":"Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7","volume":"105","author":"Staropoli","year":"2015","journal-title":"Genomics"},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/hmg\/ddt567","article-title":"SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy","volume":"23","author":"See","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"410","DOI":"10.3389\/fgene.2019.00410","article-title":"Defective Expression of Mitochondrial, Vacuolar H(+)-ATPase and Histone Genes in a C. elegans Model of SMA","volume":"10","author":"Gao","year":"2019","journal-title":"Front. Genet."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1080\/15476286.2014.996494","article-title":"Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins","volume":"11","author":"Huo","year":"2014","journal-title":"RNA Biol."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/18\/10878\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:33:29Z","timestamp":1760142809000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/18\/10878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,17]]},"references-count":211,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2022,9]]}},"alternative-id":["ijms231810878"],"URL":"https:\/\/doi.org\/10.3390\/ijms231810878","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,17]]}}}