{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:03:29Z","timestamp":1762077809118,"version":"build-2065373602"},"reference-count":158,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T00:00:00Z","timestamp":1669939200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>While the U.S. Food and Drug Administration and the European Medicines Evaluation Agency have recently approved new drugs to treat spinal muscular atrophy 1 (SMA1) in young patients, they are mostly ineffective in older patients since many motor neurons have already been lost. Therefore, understanding nervous system (NS) physiology in SMA patients is essential. Consequently, studying neural stem cells (NSCs) from SMA patients is of significant interest in searching for new treatment targets that will enable researchers to identify new pharmacological approaches. However, studying NSCs in these patients is challenging since their isolation damages the NS, making it impossible with living patients. Nevertheless, it is possible to study NSCs from animal models or create them by differentiating induced pluripotent stem cells obtained from SMA patient peripheral tissues. On the other hand, therapeutic interventions such as NSCs transplantation could ameliorate SMA condition. This review summarizes current knowledge on the physiological properties of NSCs from animals and human cellular models with an SMA background converging on the molecular and neuronal circuit formation alterations of SMA fetuses and is not focused on the treatment of SMA. By understanding how SMA alters NSC physiology, we can identify new and promising interventions that could help support affected patients.<\/jats:p>","DOI":"10.3390\/ijms232315209","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T01:42:21Z","timestamp":1670204541000},"page":"15209","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["NSC Physiological Features in Spinal Muscular Atrophy: SMN Deficiency Effects on Neurogenesis"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9656-3219","authenticated-orcid":false,"given":"Raffaella","family":"Adami","sequence":"first","affiliation":[{"name":"Department of Pharmaceutical Sciences, Section of Pharmacology and Biosciences, University of Milan, Via Balzaretti 9, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7951-9512","authenticated-orcid":false,"given":"Daniele","family":"Bottai","sequence":"additional","affiliation":[{"name":"Department of Pharmaceutical Sciences, Section of Pharmacology and Biosciences, University of Milan, Via Balzaretti 9, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","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":"ref_2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.3389\/fcell.2014.00017","article-title":"Stem cell transplantation in neurological diseases: Improving effectiveness in animal models","volume":"2","author":"Adami","year":"2014","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Tyser, R.C.V., and Srinivas, S. (2022). Recent advances in understanding cell types during human gastrulation. Semin. Cell Dev. Biol.","DOI":"10.1016\/j.semcdb.2022.05.004"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/s41420-021-00414-2","article-title":"Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome","volume":"7","author":"Grazioli","year":"2021","journal-title":"Cell Death Discov."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1126\/science.1553558","article-title":"Generation of neurons and astrocytes from isolated cells of the adult mammalian central nervous system","volume":"255","author":"Reynolds","year":"1992","journal-title":"Science"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2074","DOI":"10.1073\/pnas.90.5.2074","article-title":"Proliferating subventricular zone cells in the adult mammalian forebrain can differentiate into neurons and glia","volume":"90","author":"Lois","year":"1993","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/cne.901240303","article-title":"Autoradiographic and histological evidence of postnatal hippocampal neurogenesis in rats","volume":"124","author":"Altman","year":"1965","journal-title":"J. Comp. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1634\/stemcells.18-4-295","article-title":"Isolation and characterization of neural stem cells from the adult human olfactory bulb","volume":"18","author":"Pagano","year":"2000","journal-title":"Stem Cells"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1126\/science.287.5460.2032","article-title":"Retinal stem cells in the adult mammalian eye","volume":"287","author":"Tropepe","year":"2000","journal-title":"Science"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/cne.903510106","article-title":"Embryonic (PSA) N-CAM reveals chains of migrating neuroblasts between the lateral ventricle and the olfactory bulb of adult mice","volume":"351","author":"Rousselot","year":"1995","journal-title":"J. Comp. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s11011-021-00864-8","article-title":"Adult human neurogenesis: Early studies clarify recent controversies and go further","volume":"37","author":"Nogueira","year":"2022","journal-title":"Metab. Brain Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/j.stem.2018.03.015","article-title":"Human Hippocampal Neurogenesis Persists throughout Aging","volume":"22","author":"Boldrini","year":"2018","journal-title":"Cell Stem Cell"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/j.stem.2019.05.003","article-title":"Human Hippocampal Neurogenesis Persists in Aged Adults and Alzheimer\u2019s Disease Patients","volume":"24","author":"Tobin","year":"2019","journal-title":"Cell Stem Cell"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/nature25975","article-title":"Human hippocampal neurogenesis drops sharply in children to undetectable levels in adults","volume":"555","author":"Sorrells","year":"2018","journal-title":"Nature"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/nature10487","article-title":"Corridors of migrating neurons in the human brain and their decline during infancy","volume":"478","author":"Sanai","year":"2011","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1089\/15258160360732687","article-title":"Neural Stem Cells in the Adult Nervous System","volume":"12","author":"Bottai","year":"2003","journal-title":"J. Hematotherapy Stem Cell Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"110","DOI":"10.2176\/nmc.ra.2015-0340","article-title":"History of Neural Stem Cell Research and Its Clinical Application","volume":"56","author":"Takagi","year":"2016","journal-title":"Neurol. Med. Chir."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.neuron.2021.10.036","article-title":"Transcriptomic taxonomy and neurogenic trajectories of adult human, macaque, and pig hippocampal and entorhinal cells","volume":"110","author":"Franjic","year":"2022","journal-title":"Neuron"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1093\/hmg\/ddy329","article-title":"Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation","volume":"28","author":"Bottai","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/978-1-0716-1783-0_2","article-title":"Isolation and Culture of Neural Stem\/Progenitor Cells from the Postnatal Periventricular Region","volume":"2389","author":"Ricca","year":"2022","journal-title":"Methods Mol. Biol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/978-1-0716-1783-0_12","article-title":"Identifying Neural Progenitor Cells in the Adult Human Brain","volume":"2389","author":"Park","year":"2022","journal-title":"Methods Mol. Biol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1242\/dev.125.12.2251","article-title":"In vivo clonal analyses reveal the properties of endogenous neural stem cell proliferation in the adult mammalian forebrain","volume":"125","author":"Morshead","year":"1998","journal-title":"Development"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.stem.2018.01.003","article-title":"Adult Neurogenesis Is Sustained by Symmetric Self-Renewal and Differentiation","volume":"22","author":"Obernier","year":"2018","journal-title":"Cell Stem Cell"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"336","DOI":"10.3389\/fnins.2018.00336","article-title":"Reduction of Movement in Neurological Diseases: Effects on Neural Stem Cells Characteristics","volume":"12","author":"Adami","year":"2018","journal-title":"Front. Neurosci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/S0896-6273(02)01133-9","article-title":"EGF converts transit-amplifying neurogenic precursors in the adult brain into multipotent stem cells","volume":"36","author":"Doetsch","year":"2002","journal-title":"Neuron"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Scesa, G., Adami, R., and Bottai, D. (2021). iPSC Preparation and Epigenetic Memory: Does the Tissue Origin Matter?. Cells, 10.","DOI":"10.3390\/cells10061470"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2618","DOI":"10.1093\/eurheartj\/ehs203","article-title":"Comparative study of human-induced pluripotent stem cells derived from bone marrow cells, hair keratinocytes, and skin fibroblasts","volume":"34","author":"Wolf","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"e109","DOI":"10.1182\/blood-2010-07-298331","article-title":"Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells","volume":"117","author":"Hu","year":"2011","journal-title":"Blood"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.cell.2008.03.028","article-title":"Direct reprogramming of terminally differentiated mature B lymphocytes to pluripotency","volume":"133","author":"Hanna","year":"2008","journal-title":"Cell"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/j.scr.2016.11.009","article-title":"Establishment of an induced pluripotent stem cell (iPSC) line from a patient with Clozapine-responder Schizophrenia","volume":"17","author":"Marcatili","year":"2016","journal-title":"Stem Cell Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.scr.2016.11.005","article-title":"Generation and characterization of an induced pluripotent stem cell (iPSC) line from a patient with clozapine-resistant Schizophrenia","volume":"17","author":"Marsoner","year":"2016","journal-title":"Stem Cell Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.jcyt.2020.06.001","article-title":"Induced pluripotent stem cells derived from the developing striatum as a potential donor source for cell replacement therapy for Huntington disease","volume":"23","author":"Choompoo","year":"2021","journal-title":"Cytotherapy"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1126\/science.1154884","article-title":"Generation of pluripotent stem cells from adult mouse liver and stomach cells","volume":"321","author":"Aoi","year":"2008","journal-title":"Science"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/cdd.2011.205","article-title":"Post-natal cardiomyocytes can generate iPS cells with an enhanced capacity toward cardiomyogenic re-differentation","volume":"19","author":"Rizzi","year":"2012","journal-title":"Cell Death Differ."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1089\/adt.2019.921","article-title":"Neural Progenitor Cell Derivation Methodologies for Drug Discovery Applications","volume":"18","author":"Porterfield","year":"2020","journal-title":"Assay Drug Dev. Technol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1007\/s00702-013-1042-9","article-title":"Induced neural stem cells (iNSCs) in neurodegenerative diseases","volume":"120","author":"Hermann","year":"2013","journal-title":"J. Neural. Transm."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/bpa.12071","article-title":"Spinal muscular atrophy: New findings for an old pathology","volume":"23","author":"Bottai","year":"2013","journal-title":"Brain Pathol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1001\/archneur.1971.00490030102014","article-title":"Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891","volume":"25","author":"Werdnig","year":"1971","journal-title":"Arch. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/gt.2017.52","article-title":"The clinical landscape for SMA in a new therapeutic era","volume":"24","author":"Talbot","year":"2017","journal-title":"Gene Ther."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: Controversies and challenges","volume":"11","author":"Mercuri","year":"2012","journal-title":"Lancet Neurol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","article-title":"Observational study of spinal muscular atrophy type I and implications for clinical trials","volume":"83","author":"Finkel","year":"2014","journal-title":"Neurology"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"L\u00f3pez-Cort\u00e9s, A., Echeverr\u00eda-Garc\u00e9s, G., and Ramos-Medina, M.J. (2022). Molecular Pathogenesis and New Therapeutic Dimensions for Spinal Muscular Atrophy. Biology, 11.","DOI":"10.3390\/biology11060894"},{"key":"ref_45","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 Gene Regul. Mech."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.4155\/fmc.14.63","article-title":"Advances in therapeutic development for spinal muscular atrophy","volume":"6","author":"Howell","year":"2014","journal-title":"Future Med. Chem."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2720","DOI":"10.1101\/gad.908401","article-title":"Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein","volume":"15","author":"Hebert","year":"2001","journal-title":"Genes Dev."},{"key":"ref_48","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_49","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/hmg\/9.1.47","article-title":"Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord","volume":"9","author":"Pagliardini","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1523\/JNEUROSCI.23-16-06627.2003","article-title":"Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization","volume":"23","author":"Zhang","year":"2003","journal-title":"J. Neurosci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_52","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":"ref_53","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 SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1101\/gad.1884910","article-title":"A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity","volume":"24","author":"Cho","year":"2010","journal-title":"Genes Dev."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/3030","article-title":"Differential SMN2 expression associated with SMA severity","volume":"20","author":"Gavrilov","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_56","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_57","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.ejpn.2011.07.007","article-title":"Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients","volume":"16","author":"Amara","year":"2012","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1093\/hmg\/ddr067","article-title":"Increased IGF-1 in muscle modulates the phenotype of severe SMA mice","volume":"20","author":"Wee","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_59","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_60","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_61","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1242\/dmm.007245","article-title":"The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy","volume":"4","author":"Sleigh","year":"2011","journal-title":"Dis. Model. Mech."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1073\/pnas.0610660104","article-title":"Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis","volume":"104","author":"Setola","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Singh, N.N., Seo, J., Rahn, S.J., and Singh, R.N. (2012). A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0049595"},{"key":"ref_64","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_65","doi-asserted-by":"crossref","first-page":"30778","DOI":"10.1038\/srep30778","article-title":"A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein","volume":"6","author":"Seo","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1038\/gt.2017.46","article-title":"Developmental regulation of SMN expression: Pathophysiological implications and perspectives for therapy development in spinal muscular atrophy","volume":"24","author":"Jablonka","year":"2017","journal-title":"Gene Ther."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"8622","DOI":"10.1523\/JNEUROSCI.3967-05.2006","article-title":"Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons","volume":"26","author":"Zhang","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"25782","DOI":"10.1074\/jbc.M112.362830","article-title":"Human axonal survival of motor neuron (a-SMN) protein stimulates axon growth, cell motility, C-C motif ligand 2 (CCL2), and insulin-like growth factor-1 (IGF1) production","volume":"287","author":"Locatelli","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Pletto, D., Capra, S., Finardi, A., Colciaghi, F., Nobili, P., Battaglia, G.S., Locatelli, D., and Cagnoli, C. (2018). Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0199105"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1006\/bbrc.1995.2135","article-title":"Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients","volume":"213","author":"Gennarelli","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1093\/jnen\/64.3.215","article-title":"Implication of fetal SMN2 expression in type I SMA pathogenesis: Protection or pathological gain of function?","volume":"64","author":"Caselles","year":"2005","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1093\/hmg\/dds474","article-title":"A novel function for the survival motoneuron protein as a translational regulator","volume":"22","author":"Sanchez","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"28476","DOI":"10.1074\/jbc.M414328200","article-title":"Tudor domains bind symmetrical dimethylated arginines","volume":"280","author":"Richard","year":"2005","journal-title":"J. Biol. Chem."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1038\/nsmb.2185","article-title":"Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins","volume":"18","author":"Tripsianes","year":"2011","journal-title":"Nat. Struct Mol. Biol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.molcel.2013.05.021","article-title":"Defining the RGG\/RG motif","volume":"50","author":"Thandapani","year":"2013","journal-title":"Mol. Cell"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1083\/jcb.147.6.1181","article-title":"Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems","volume":"147","author":"Charroux","year":"1999","journal-title":"J. Cell Biol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/35070059","article-title":"Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein","volume":"3","author":"Gangwani","year":"2001","journal-title":"Nat. Cell Biol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"14922","DOI":"10.1074\/jbc.M309218200","article-title":"Survival motor neuron (SMN) protein interacts with transcription corepressor mSin3A","volume":"279","author":"Zou","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/sj.embor.embor863","article-title":"Interaction between the small-nuclear-RNA cap hypermethylase and the spinal muscular atrophy protein, survival of motor neuron","volume":"4","author":"Mouaikel","year":"2003","journal-title":"EMBO Rep."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"8663","DOI":"10.1093\/nar\/gku580","article-title":"Hypermethylated-capped selenoprotein mRNAs in mammals","volume":"42","author":"Wurth","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1002\/jnr.21308","article-title":"QNQKE targeting motif for the SMN-Gemin multiprotein complexin neurons","volume":"85","author":"Zhang","year":"2007","journal-title":"J. Neurosci. Res."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.molcel.2006.11.019","article-title":"The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing","volume":"25","author":"Cheng","year":"2007","journal-title":"Mol. Cell"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1126\/science.1202663","article-title":"The C-terminal domain of RNA polymerase II is modified by site-specific methylation","volume":"332","author":"Sims","year":"2011","journal-title":"Science"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/nature18014","article-title":"AMPK-SKP2-CARM1 signalling cascade in transcriptional regulation of autophagy","volume":"534","author":"Shin","year":"2016","journal-title":"Nature"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"2661","DOI":"10.1093\/nar\/gkv1334","article-title":"A novel role for CARM1 in promoting nonsense-mediated mRNA decay: Potential implications for spinal muscular atrophy","volume":"44","author":"Sanchez","year":"2016","journal-title":"Nucleic. Acids Res."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"5059","DOI":"10.1093\/nar\/gkq271","article-title":"GEMIN2 promotes accumulation of RAD51 at double-strand breaks in homologous recombination","volume":"38","author":"Takizawa","year":"2010","journal-title":"Nucleic. Acids Res."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"4296","DOI":"10.1093\/nar\/gkp298","article-title":"Human PSF binds to RAD51 and modulates its homologous-pairing and strand-exchange activities","volume":"37","author":"Morozumi","year":"2009","journal-title":"Nucleic. Acids Res."},{"key":"ref_88","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_89","doi-asserted-by":"crossref","first-page":"2395","DOI":"10.1093\/hmg\/9.16.2395","article-title":"The DNA methyltransferases of mammals","volume":"9","author":"Bestor","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0092-8674(00)81656-6","article-title":"DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development","volume":"99","author":"Okano","year":"1999","journal-title":"Cell"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nrg2719","article-title":"Establishing, maintaining and modifying DNA methylation patterns in plants and animals","volume":"11","author":"Law","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0014-5793(00)01449-6","article-title":"The PWWP domain: A potential protein-protein interaction domain in nuclear proteins influencing differentiation?","volume":"473","author":"Stec","year":"2000","journal-title":"FEBS Lett."},{"key":"ref_93","first-page":"217","article-title":"The PWWP domain of mammalian DNA methyltransferase Dnmt3b defines a new family of DNA-binding folds","volume":"9","author":"Qiu","year":"2002","journal-title":"Nat. Struct. Biol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/nn.3607","article-title":"Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain","volume":"17","author":"Guo","year":"2014","journal-title":"Nat. Neurosci."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"1237905","DOI":"10.1126\/science.1237905","article-title":"Global epigenomic reconfiguration during mammalian brain development","volume":"341","author":"Lister","year":"2013","journal-title":"Science"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nature14319","article-title":"Disruption of DNA-methylation-dependent long gene repression in Rett syndrome","volume":"522","author":"Gabel","year":"2015","journal-title":"Nature"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.tig.2020.07.009","article-title":"Emerging Insights into the Distinctive Neuronal Methylome","volume":"36","author":"Clemens","year":"2020","journal-title":"Trends Genet."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.molcel.2019.10.033","article-title":"MeCP2 Represses Enhancers through Chromosome Topology-Associated DNA Methylation","volume":"77","author":"Clemens","year":"2020","journal-title":"Mol. Cell"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/j.cell.2017.09.047","article-title":"Early-Life Gene Expression in Neurons Modulates Lasting Epigenetic States","volume":"171","author":"Stroud","year":"2017","journal-title":"Cell"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"eaau6190","DOI":"10.1126\/sciadv.aau6190","article-title":"A unique role for DNA (hydroxy)methylation in epigenetic regulation of human inhibitory neurons","volume":"4","author":"Kozlenkov","year":"2018","journal-title":"Sci. Adv."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1016\/j.neuron.2015.05.018","article-title":"Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain","volume":"86","author":"Mo","year":"2015","journal-title":"Neuron"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1126\/science.aan3351","article-title":"Single-cell methylomes identify neuronal subtypes and regulatory elements in mammalian cortex","volume":"357","author":"Luo","year":"2017","journal-title":"Science"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/s41467-019-14266-z","article-title":"Dissecting transcriptomic signatures of neuronal differentiation and maturation using iPSCs","volume":"11","author":"Burke","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1093\/hmg\/ddn357","article-title":"Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition","volume":"18","author":"Hauke","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"537","DOI":"10.3389\/fphar.2020.00537","article-title":"Histone Deacetylases Inhibitors in Neurodegenerative Diseases, Neuroprotection and Neuronal Differentiation","volume":"11","author":"Shukla","year":"2020","journal-title":"Front. Pharmacol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"146109","DOI":"10.1016\/j.gene.2021.146109","article-title":"Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC","volume":"811","author":"Maretina","year":"2022","journal-title":"Gene"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"17063","DOI":"10.1074\/jbc.M309002200","article-title":"Epigenetic control of mouse Oct-4 gene expression in embryonic stem cells and trophoblast stem cells","volume":"279","author":"Hattori","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1038\/nature08752","article-title":"Reprogramming towards pluripotency requires AID-dependent DNA demethylation","volume":"463","author":"Bhutani","year":"2010","journal-title":"Nature"},{"key":"ref_109","doi-asserted-by":"crossref","unstructured":"Nishino, K., Toyoda, M., Yamazaki-Inoue, M., Fukawatase, Y., Chikazawa, E., Sakaguchi, H., Akutsu, H., and Umezawa, A. (2011). DNA methylation dynamics in human induced pluripotent stem cells over time. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002085"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"6626","DOI":"10.1038\/ncomms7626","article-title":"Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells","volume":"6","author":"Du","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/pbc.22679","article-title":"The dual role of HLXB9 in leukemia","volume":"56","author":"Ferguson","year":"2011","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"2351","DOI":"10.2147\/DDDT.S83275","article-title":"Critical appraisal of bevacizumab in the treatment of ovarian cancer","volume":"9","author":"Yoshida","year":"2015","journal-title":"Drug Des. Devel. Ther."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"101730","DOI":"10.1016\/j.jchemneu.2019.101730","article-title":"Neuroprotective effects of human neural stem cells over-expressing choline acetyltransferase in a middle cerebral artery occlusion model","volume":"103","author":"Kim","year":"2020","journal-title":"J. Chem. Neuroanat."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1007\/s12012-019-09532-x","article-title":"The Use of iPSC-Derived Cardiomyocytes and Optical Mapping for Erythromycin Arrhythmogenicity Testing","volume":"19","author":"Podgurskaya","year":"2019","journal-title":"Cardiovasc. Toxicol."},{"key":"ref_115","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_116","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1111\/j.1745-7254.2005.00145.x","article-title":"Plastins: Versatile modulators of actin organization in (patho) physiological cellular processes","volume":"26","author":"Delanote","year":"2005","journal-title":"Acta Pharmacol. Sin."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1634\/stemcells.2007-0884","article-title":"Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator","volume":"26","author":"Osumi","year":"2008","journal-title":"Stem Cells"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.mcn.2008.05.010","article-title":"Pax6 promotes neurogenesis in human neural stem cells","volume":"38","author":"Kallur","year":"2008","journal-title":"Mol. Cell Neurosci."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.mcn.2004.07.006","article-title":"MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions","volume":"27","author":"Kishi","year":"2004","journal-title":"Mol. Cell Neurosci."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.molcel.2010.01.030","article-title":"Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state","volume":"37","author":"Skene","year":"2010","journal-title":"Mol. Cell"},{"key":"ref_121","first-page":"1181","article-title":"The Molecular Basis of MeCP2 Function in the Brain","volume":"147","author":"Tillotson","year":"2019","journal-title":"J. Mol. Biol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1093\/hmg\/ddab350","article-title":"Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model","volume":"31","author":"Wang","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/S1097-2765(01)00244-1","article-title":"SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets","volume":"7","author":"Friesen","year":"2001","journal-title":"Mol. Cell"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/S0022-2836(03)00148-7","article-title":"High-resolution X-ray and NMR structures of the SMN Tudor domain: Conformational variation in the binding site for symmetrically dimethylated arginine residues","volume":"327","author":"Sprangers","year":"2003","journal-title":"J. Mol. Biol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"2839","DOI":"10.1002\/jnr.21743","article-title":"Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN-depleted mice","volume":"86","author":"Shafey","year":"2008","journal-title":"J. Neurosci. Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/cm.970140211","article-title":"Characterization of renatured profilin purified by urea elution from poly-L-proline agarose columns","volume":"14","author":"Kaiser","year":"1989","journal-title":"Cell Motil. Cytoskeleton."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"4865","DOI":"10.1093\/hmg\/ddr425","article-title":"The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin","volume":"20","author":"Zeug","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_128","first-page":"131","article-title":"The profile of profilins","volume":"159","author":"Jockusch","year":"2007","journal-title":"Rev. Physiol. Biochem. Pharmacol."},{"key":"ref_129","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_130","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1006\/jmbi.1999.3318","article-title":"X-ray structure determination of human profilin II: A comparative structural analysis of human profilins","volume":"294","author":"Nodelman","year":"1999","journal-title":"J. Mol. Biol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1083\/jcb.200304021","article-title":"RhoA\/ROCK regulation of neuritogenesis via profilin IIa-mediated control of actin stability","volume":"162","author":"Medina","year":"2003","journal-title":"J. Cell Biol."},{"key":"ref_132","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_133","doi-asserted-by":"crossref","first-page":"11696","DOI":"10.1038\/srep11696","article-title":"Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons","volume":"5","author":"Bernal","year":"2015","journal-title":"Sci. Rep."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"35375","DOI":"10.1021\/acsomega.1c04688","article-title":"Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation","volume":"6","author":"Verheijen","year":"2021","journal-title":"ACS Omega"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"4216","DOI":"10.1093\/hmg\/ddq340","article-title":"SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy","volume":"19","author":"Wishart","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2516865718820946","DOI":"10.1177\/2516865718820946","article-title":"Impact of Metabolic Pathways and Epigenetics on Neural Stem Cells","volume":"11","author":"Fawal","year":"2018","journal-title":"Epigenet Insights"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.stem.2016.04.015","article-title":"Mitochondrial Dynamics Impacts Stem Cell Identity and Fate Decisions by Regulating a Nuclear Transcriptional Program","volume":"19","author":"Khacho","year":"2016","journal-title":"Cell Stem Cell"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.conb.2016.11.006","article-title":"Metabolism and neurogenesis","volume":"42","author":"Knobloch","year":"2017","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1089\/scd.2015.0076","article-title":"Differentiation of Human Neural Stem Cells into Motor Neurons Stimulates Mitochondrial Biogenesis and Decreases Glycolytic Flux","volume":"24","author":"Keeney","year":"2015","journal-title":"Stem Cells Dev."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/j.stem.2016.12.013","article-title":"Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders","volume":"20","author":"Lorenz","year":"2017","journal-title":"Cell Stem Cell"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/nature11689","article-title":"Metabolic control of adult neural stem cell activity by Fasn-dependent lipogenesis","volume":"493","author":"Knobloch","year":"2013","journal-title":"Nature"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1016\/j.neuron.2017.03.008","article-title":"Role of Mitochondrial Metabolism in the Control of Early Lineage Progression and Aging Phenotypes in Adult Hippocampal Neurogenesis","volume":"93","author":"Beckervordersandforth","year":"2017","journal-title":"Neuron"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/nchembio.364","article-title":"Metabolic oxidation regulates embryonic stem cell differentiation","volume":"6","author":"Yanes","year":"2010","journal-title":"Nat. Chem. Biol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"4025","DOI":"10.1242\/jcs.016972","article-title":"Mitochondrial DNA replication during differentiation of murine embryonic stem cells","volume":"120","author":"Alderson","year":"2007","journal-title":"J. Cell Sci."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1002\/stem.404","article-title":"The senescence-related mitochondrial\/oxidative stress pathway is repressed in human induced pluripotent stem cells","volume":"28","author":"Prigione","year":"2010","journal-title":"Stem Cells"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/dvdy.24538","article-title":"Mitochondrial dynamics in the regulation of neurogenesis: From development to the adult brain","volume":"247","author":"Khacho","year":"2018","journal-title":"Dev. Dyn."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"4860","DOI":"10.1038\/emboj.2011.401","article-title":"UCP2 regulates energy metabolism and differentiation potential of human pluripotent stem cells","volume":"30","author":"Zhang","year":"2011","journal-title":"EMBO J."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/10.5.497","article-title":"Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy","volume":"10","author":"Jablonka","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_149","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_150","doi-asserted-by":"crossref","unstructured":"Xu, H., Somers, Z.B., Robinson, M.L., and Hebert, M.D. (2005). Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis. BMC Cell Biol., 6.","DOI":"10.1186\/1471-2121-6-29"},{"key":"ref_151","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_152","doi-asserted-by":"crossref","first-page":"4785","DOI":"10.1007\/s00018-021-03819-5","article-title":"Revisiting the role of mitochondria in spinal muscular atrophy","volume":"78","author":"James","year":"2021","journal-title":"Cell Mol. Life Sci."},{"key":"ref_153","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_154","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. Model. Mech."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"3316","DOI":"10.1172\/JCI35432","article-title":"Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy","volume":"118","author":"Corti","year":"2008","journal-title":"J. Clin. Investig."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"101376","DOI":"10.1016\/j.scr.2018.101376","article-title":"Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines","volume":"34","author":"Valetdinova","year":"2019","journal-title":"Stem Cell Res."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1089\/hum.2017.255","article-title":"Seamless Genetic Conversion of SMN2 to SMN1 via CRISPR\/Cpf1 and Single-Stranded Oligodeoxynucleotides in Spinal Muscular Atrophy Patient-Specific Induced Pluripotent Stem Cells","volume":"29","author":"Zhou","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"165ra162","DOI":"10.1126\/scitranslmed.3004108","article-title":"Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy","volume":"4","author":"Corti","year":"2012","journal-title":"Sci. Transl. Med."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/23\/15209\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:33:04Z","timestamp":1760146384000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/23\/15209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,2]]},"references-count":158,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["ijms232315209"],"URL":"https:\/\/doi.org\/10.3390\/ijms232315209","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2022,12,2]]}}}