{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:24:52Z","timestamp":1769606692394,"version":"3.49.0"},"reference-count":222,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T00:00:00Z","timestamp":1628208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD060586"],"award-info":[{"award-number":["R01HD060586"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CureSMA","award":["BUR1617"],"award-info":[{"award-number":["BUR1617"]}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["603854"],"award-info":[{"award-number":["603854"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Proximal spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by motor neuron loss and subsequent atrophy of skeletal muscle. SMA is caused by deficiency of the essential survival motor neuron (SMN) protein, canonically responsible for the assembly of the spliceosomal small nuclear ribonucleoproteins (snRNPs). Therapeutics aimed at increasing SMN protein levels are efficacious in treating SMA. However, it remains unknown how deficiency of SMN results in motor neuron loss, resulting in many reported cellular functions of SMN and pathways affected in SMA. Herein is a perspective detailing what genetics and biochemistry have told us about SMA and SMN, from identifying the SMA determinant region of the genome, to the development of therapeutics. Furthermore, we will discuss how genetics and biochemistry have been used to understand SMN function and how we can determine which of these are critical to SMA moving forward.<\/jats:p>","DOI":"10.3390\/ijms22168494","type":"journal-article","created":{"date-parts":[[2021,8,8]],"date-time":"2021-08-08T21:49:41Z","timestamp":1628459381000},"page":"8494","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective"],"prefix":"10.3390","volume":"22","author":[{"suffix":"III","given":"Anton J.","family":"Blatnik","sequence":"first","affiliation":[{"name":"Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3979-9596","authenticated-orcid":false,"given":"Vicki L.","family":"McGovern","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9031-1555","authenticated-orcid":false,"given":"Arthur H. M.","family":"Burghes","sequence":"additional","affiliation":[{"name":"Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.15.6.409","article-title":"Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy","volume":"15","author":"Pearn","year":"1978","journal-title":"J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1136\/jmg.10.3.260","article-title":"The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England","volume":"10","author":"Pearn","year":"1973","journal-title":"J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of >72,400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_4","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_5","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1136\/adc.45.239.33","article-title":"The genetic component in child mortality","volume":"45","author":"Roberts","year":"1970","journal-title":"Arch. Dis. Child."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_7","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_8","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_9","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: Diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/ana.23995","article-title":"Spinal muscular atrophy: Development and implementation of potential treatments","volume":"74","author":"Arnold","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_11","first-page":"193","article-title":"Atrophia musculorum spinalis pseudomyopathica: Heriditare neurogenic proximale Amytrophie von Kugelberg und Welander","volume":"37","author":"Becker","year":"1964","journal-title":"Z. Menschl. Verbungsforsch. Konst."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/BF00212028","article-title":"Linkage mapping of the spinal muscular atrophy gene","volume":"93","author":"Burghes","year":"1994","journal-title":"Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1093\/brain\/87.4.707","article-title":"Infantile Muscular Atrophy. A Prospective Study with Particular Reference to a Slowly Progressive Variety","volume":"87","author":"Dubowitz","year":"1964","journal-title":"Brain A. J. Neurol."},{"key":"ref_14","first-page":"892","article-title":"Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q","volume":"50","author":"Muller","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/BF00438362","article-title":"Study of the clinical aspects of infantile spinal progressive muscular atrophy of the Werdnig-Hoffman type","volume":"81","author":"Schmid","year":"1958","journal-title":"Z Kinderheilkd"},{"key":"ref_16","first-page":"92","article-title":"Heritable spinal muscular atrophies","volume":"24","author":"Zellweger","year":"1969","journal-title":"Helv. Paediatr. Acta"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/345823a0","article-title":"Genetic homogeneity between acute and chronic forms of spinal muscular atrophy","volume":"345","author":"Gilliam","year":"1990","journal-title":"Nature"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990","journal-title":"Nature"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","article-title":"Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators","volume":"336","author":"Melki","year":"1990","journal-title":"Lancet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion? When it is converted","volume":"61","author":"Burghes","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00439-019-01983-0","article-title":"Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype","volume":"138","author":"Ruhno","year":"2019","journal-title":"Hum. Genet."},{"key":"ref_23","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_24","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1093\/hmg\/5.11.1727","article-title":"An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene","volume":"5","author":"Parsons","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_25","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_26","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_27","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_28","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1128\/MCB.01262-08","article-title":"Regulation of SMN protein stability","volume":"29","author":"Burnett","year":"2009","journal-title":"Mol. Cell Biol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.2353\/ajpath.2007.070399","article-title":"Refined characterization of the expression and stability of the SMN gene products","volume":"171","author":"Vitte","year":"2007","journal-title":"Am. J. Pathol."},{"key":"ref_30","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_31","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_32","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number","volume":"60","author":"McAndrew","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","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_34","doi-asserted-by":"crossref","unstructured":"Hua, Y., Vickers, T.A., Baker, B.F., Bennett, C.F., and Krainer, A.R. (2007). Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol., 5.","DOI":"10.1371\/journal.pbio.0050073"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1128\/MCB.26.4.1333-1346.2006","article-title":"Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron","volume":"26","author":"Singh","year":"2006","journal-title":"Mol. Cell Biol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"7","DOI":"10.4161\/rna.4.1.4535","article-title":"Evolving concepts on human SMN pre-mRNA splicing","volume":"4","author":"Singh","year":"2007","journal-title":"RNA Biol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2008.01.014","article-title":"Antisense masking of an hnRNP A1\/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice","volume":"82","author":"Hua","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_38","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_39","first-page":"72","article-title":"Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy","volume":"3","author":"Passini","year":"2011","journal-title":"Transl. Sci. Transl. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/ddr600","article-title":"A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse","volume":"21","author":"Porensky","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1126\/science.1250127","article-title":"Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy","volume":"345","author":"Naryshkin","year":"2014","journal-title":"Science"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1038\/s41589-019-0384-5","article-title":"Structural basis of a small molecule targeting RNA for a specific splicing correction","volume":"15","author":"Campagne","year":"2019","journal-title":"Nat. Chem. Biol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/nchembio.1837","article-title":"SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice","volume":"11","author":"Palacino","year":"2015","journal-title":"Nat. Chem. Biol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1038\/s41467-017-01559-4","article-title":"Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers","volume":"8","author":"Sivaramakrishnan","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/acn3.23","article-title":"Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept","volume":"1","author":"Arnold","year":"2014","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"6086","DOI":"10.1021\/acs.jmedchem.6b00459","article-title":"Specific Correction of Alternative Survival Motor Neuron 2 Splicing by Small Molecules: Discovery of a Potential Novel Medicine To Treat Spinal Muscular Atrophy","volume":"59","author":"Ratni","year":"2016","journal-title":"J. Med. Chem."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"Bertini","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddq514","article-title":"Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice","volume":"20","author":"Dominguez","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_50","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_51","first-page":"35","article-title":"Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy","volume":"2","author":"Valori","year":"2010","journal-title":"Transl. Sci. Transl. Med."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/mt.2014.210","article-title":"Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: A dose-response study in mice and nonhuman primates","volume":"23","author":"Meyer","year":"2015","journal-title":"Mol. Ther."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Strauss, K., Muntoni, F., Farrar, M., Saito, K., Mendell, J., Servais, L., McMillan, H., Swoboda, K., Kwon, J., and Zaidman, C. (2020, January 15\u201318). Onasemnogene abeparvovec gene therapy in presymptomatic spinal muscular atrophy (SMA): SPR1NT study update in children with 2 copies of SMN2. Proceedings of the Muscular Dystrophy Association Conference, Virtual Broadcast, Porto, Portugal. Available online: https:\/\/mdaconference.org\/node\/1158.","DOI":"10.1212\/WNL.96.15_supplement.4190"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Strauss, K., Muntoni, F., Farrar, M., Saito, K., Mendell, J., Servais, L., McMillan, H., Swoboda, K., Kwon, J., and Zaidman, C. (2021, January 5\u201318). Onasemnogene abeparvovec gene therapy in presymptomatic spinal muscular atrophy (SMA): SPR1NT study update in children with 3 copies of SMN2. Proceedings of the Muscular Dystrophy Association Conference, Virtual Broadcast, Porto, Portugal. Available online: https:\/\/mdaconference.org\/node\/1159.","DOI":"10.1212\/WNL.96.15_supplement.4190"},{"key":"ref_55","unstructured":"Novartis Gene Therapies (2021, July 27). Study of Intrathecal Administration of Onasemnogene Abeparvovec-Xioi for Spinanl Muscular Atrophy (STRONG). National Institutes of Health, U.S. National Library of Medicine, Available online: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT03381729."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.cell.2020.05.037","article-title":"Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning","volume":"182","author":"Arbab","year":"2020","journal-title":"Cell"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/nature24644","article-title":"Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage","volume":"551","author":"Gaudelli","year":"2017","journal-title":"Nature"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/s41586-018-0686-x","article-title":"Predictable and precise template-free CRISPR editing of pathogenic variants","volume":"563","author":"Shen","year":"2018","journal-title":"Nature"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1093\/nsr\/nwz131","article-title":"Disruption of splicing-regulatory elements using CRISPR\/Cas9 rescues spinal muscular atrophy in human iPSCs and mice","volume":"7","author":"Li","year":"2020","journal-title":"Natl. Sci. Rev."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nrn2670","article-title":"Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?","volume":"10","author":"Burghes","year":"2009","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1086\/302160","article-title":"Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number","volume":"63","author":"Parsons","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_63","unstructured":"Vinette, K.M., Kirwin, S.M., Gonzalez, I.L., and Funanage, V.L. (2008, January 9). A Review of SMN1 mutations in a Molecular Diagnostics Laboratory. Proceedings of the 12th Annual International Spinal Muscular Atrophy Research Group Meeting, Boston, MA, USA."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/humu.20111","article-title":"Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy","volume":"25","author":"Sun","year":"2005","journal-title":"Hum. Mutat"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1007\/s00415-006-0410-x","article-title":"A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins","volume":"254","author":"Kotani","year":"2007","journal-title":"J. Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/humu.20092","article-title":"Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations","volume":"24","author":"Clermont","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1212\/01.WNL.0000132634.48815.13","article-title":"Detection of novel mutations in the SMN Tudor domain in type I SMA patients","volume":"63","author":"Cusco","year":"2004","journal-title":"Neurology"},{"key":"ref_68","unstructured":"Mihal, D.C., Bridgeman, S.J., Pryatt, R.E., and Prior, T.W. (2006, January 9\u201313). Sequence analysis of small SMNq mutations in SMA compound heterozygotes. Proceedings of the Annual Meeting of The American Society of Human Genetics, New Orleans, Louisiana. Available online: www.ashg.org\/genetics\/ashg06s\/index.shtml."},{"key":"ref_69","unstructured":"Prior, T.W. Personal Communication."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.nmd.2007.03.003","article-title":"Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy","volume":"17","author":"Zapletalova","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s100480050021","article-title":"Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7","volume":"1","author":"Rochette","year":"1997","journal-title":"Neurogenetics"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/hmg\/6.5.821","article-title":"Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)","volume":"6","author":"Hahnen","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s00439-008-0598-1","article-title":"Mutation update of spinal muscular atrophy in Spain: Molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene","volume":"125","author":"Alias","year":"2009","journal-title":"Hum. Genet."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s100480050040","article-title":"Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy","volume":"1","author":"Wang","year":"1998","journal-title":"Neurogenetics"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/6.3.497","article-title":"Missense mutation clustering in the survival motor neuron gene: A role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?","volume":"6","author":"Talbot","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"11014","DOI":"10.1523\/JNEUROSCI.1637-06.2006","article-title":"Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis","volume":"26","author":"Carrel","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"3477","DOI":"10.1093\/hmg\/ddaa229","article-title":"Conditional deletion of SMN in cell culture identifies functional SMN alleles","volume":"29","author":"Blatnik","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","article-title":"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/hmg\/9.5.849","article-title":"Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy","volume":"9","author":"Frugier","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1083\/jcb.200208079","article-title":"A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy","volume":"160","author":"Monani","year":"2003","journal-title":"J. Cell Biol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1093\/hmg\/ddp157","article-title":"A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice","volume":"18","author":"Workman","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"3404","DOI":"10.1093\/hmg\/ddy251","article-title":"Mild SMN missense alleles are only functional in the presence of SMN2 in mammals","volume":"27","author":"Iyer","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1093\/hmg\/ddaa235","article-title":"Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice","volume":"29","author":"McGovern","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0014-5793(00)02243-2","article-title":"Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila","volume":"486","author":"Chan","year":"2000","journal-title":"FEBS Lett."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1093\/hmg\/ddq459","article-title":"A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds","volume":"20","author":"Sleigh","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Praveen, K., Wen, Y., Gray, K.M., Noto, J.J., Patlolla, A.R., Van Duyne, G.D., and Matera, A.G. (2014). SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004489"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.15252\/embj.201490350","article-title":"Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organization","volume":"34","author":"Neuenkirchen","year":"2015","journal-title":"EMBO J."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"7207","DOI":"10.1093\/nar\/gkab158","article-title":"Identification and structural analysis of the Schizosaccharomyces pombe SMN complex","volume":"49","author":"Veepaschit","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"9063","DOI":"10.1073\/pnas.94.17.9063","article-title":"Human argininosuccinate lyase: A structural basis for intragenic complementation","volume":"94","author":"Turner","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1007\/PL00000646","article-title":"Intragenic complementation and the structure and function of argininosuccinate lyase","volume":"57","author":"Yu","year":"2000","journal-title":"Cell Mol. Life Sci"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"15581","DOI":"10.1021\/bi011526e","article-title":"Mechanisms for intragenic complementation at the human argininosuccinate lyase locus","volume":"40","author":"Yu","year":"2001","journal-title":"Biochemistry"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"E5527","DOI":"10.1073\/pnas.1411959111","article-title":"The N- and C-terminal autolytic fragments of CAPN3\/p94\/calpain-3 restore proteolytic activity by intermolecular complementation","volume":"111","author":"Ono","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1016\/j.str.2012.08.024","article-title":"The survival motor neuron protein forms soluble glycine zipper oligomers","volume":"20","author":"Martin","year":"2012","journal-title":"Structure"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"20185","DOI":"10.1074\/jbc.M115.667279","article-title":"Oligomeric Properties of Survival Motor Neuron.Gemin2 Complexes","volume":"290","author":"Gupta","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1093\/hmg\/10.20.2307","article-title":"SCA1 molecular genetics: A history of a 13 year collaboration against glutamines","volume":"10","author":"Orr","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.neuron.2010.08.022","article-title":"SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776","volume":"67","author":"Duvick","year":"2010","journal-title":"Neuron"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1126\/science.1212673","article-title":"Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua","volume":"334","author":"Fryer","year":"2011","journal-title":"Science"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1101\/gad.212068.112","article-title":"Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua","volume":"27","author":"Kim","year":"2013","journal-title":"Genes Dev."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.neuron.2018.02.013","article-title":"ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism","volume":"97","author":"Rousseaux","year":"2018","journal-title":"Neuron"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s12017-014-8295-9","article-title":"Rett syndrome and MeCP2","volume":"16","author":"Liyanage","year":"2014","journal-title":"Neuromolecular. Med."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1038\/ng.2714","article-title":"A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome","volume":"45","author":"Buchovecky","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1101\/gr.258400.119","article-title":"Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology","volume":"30","author":"Enikanolaiye","year":"2020","journal-title":"Genome Res."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1038\/ng.2738","article-title":"Cholesterol metabolism and Rett syndrome pathogenesis","volume":"45","author":"Nagy","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.neulet.2018.02.005","article-title":"Ion channel dysfunction in cerebellar ataxia","volume":"688","author":"Bushart","year":"2019","journal-title":"Neurosci. Lett."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"3249","DOI":"10.1093\/hmg\/ddaa212","article-title":"Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1","volume":"29","author":"Chopra","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1098\/rsob.170216","article-title":"Rett syndrome: A neurological disorder with metabolic components","volume":"8","author":"Kyle","year":"2018","journal-title":"Open Biol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"e27265","DOI":"10.4161\/rdis.27265","article-title":"A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets","volume":"1","author":"Justice","year":"2013","journal-title":"Rare Dis."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0092-8674(00)80368-2","article-title":"The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis","volume":"90","author":"Fischer","year":"1997","journal-title":"Cell"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1126\/science.1074962","article-title":"Essential role for the SMN complex in the specificity of snRNP assembly","volume":"298","author":"Pellizzoni","year":"2002","journal-title":"Science"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.yexcr.2004.03.022","article-title":"The SMN complex","volume":"296","author":"Gubitz","year":"2004","journal-title":"Exp. Cell Res."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.molcel.2006.05.036","article-title":"The Gemin5 protein of the SMN complex identifies snRNAs","volume":"23","author":"Battle","year":"2006","journal-title":"Mol. Cell"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1177\/0883073807305666","article-title":"Molecular functions of the SMN complex","volume":"22","author":"Kolb","year":"2007","journal-title":"J. Child. Neurol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.molcel.2008.06.004","article-title":"Inactivation of the SMN complex by oxidative stress","volume":"31","author":"Wan","year":"2008","journal-title":"Mol. Cell"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/j.cell.2011.06.043","article-title":"Structure of a key intermediate of the SMN complex reveals Gemin2\u2019s crucial function in snRNP assembly","volume":"146","author":"Zhang","year":"2011","journal-title":"Cell"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.semcdb.2014.04.026","article-title":"SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease","volume":"32","author":"Li","year":"2014","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/nsmb.3167","article-title":"A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange","volume":"23","author":"So","year":"2016","journal-title":"Nat. Struct Mol. Biol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"5470","DOI":"10.1093\/emboj\/20.19.5470","article-title":"Purified U7 snRNPs lack the Sm proteins D1 and D2 but contain Lsm10, a new 14 kDa Sm D1-like protein","volume":"20","author":"Pillai","year":"2001","journal-title":"EMBO J."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1101\/gad.274403","article-title":"Unique Sm core structure of U7 snRNPs: Assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing","volume":"17","author":"Pillai","year":"2003","journal-title":"Genes Dev."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1016\/j.celrep.2013.11.012","article-title":"SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3\u2019-end formation of histone mRNAs","volume":"5","author":"Tisdale","year":"2013","journal-title":"Cell Rep."},{"key":"ref_121","doi-asserted-by":"crossref","unstructured":"Mahmoudi, S., Henriksson, S., Weibrecht, I., Smith, S., Soderberg, O., Stromblad, S., Wiman, K.G., and Farnebo, M. (2010). WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. PLoS Biol., 8.","DOI":"10.1371\/journal.pbio.1000521"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/nature10924","article-title":"Telomerase RNA biogenesis involves sequential binding by Sm and Lsm complexes","volume":"484","author":"Tang","year":"2012","journal-title":"Nature"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1242\/bio.018804","article-title":"SMN and coilin negatively regulate dyskerin association with telomerase RNA","volume":"5","author":"Poole","year":"2016","journal-title":"Biol. Open"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1093\/nar\/gks1224","article-title":"Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle","volume":"41","author":"Piazzon","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_125","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_126","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_127","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_128","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_129","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1093\/hmg\/ddm327","article-title":"KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy","volume":"17","author":"Tadesse","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_130","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_131","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_132","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/hmg\/ddq500","article-title":"HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects","volume":"20","author":"Hubers","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_133","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_134","doi-asserted-by":"crossref","unstructured":"Dombert, B., Sivadasan, R., Simon, C.M., Jablonka, S., and Sendtner, M. (2014). Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0110846"},{"key":"ref_135","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_136","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_137","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_138","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(86)90072-3","article-title":"Cap trimethylation of U snRNA is cytoplasmic and dependent on U snRNP protein binding","volume":"46","author":"Mattaj","year":"1986","journal-title":"Cell"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1126\/science.2143847","article-title":"An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus","volume":"249","author":"Fischer","year":"1990","journal-title":"Science"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/0092-8674(90)90021-6","article-title":"The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal","volume":"62","author":"Hamm","year":"1990","journal-title":"Cell"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/j.1460-2075.1993.tb05689.x","article-title":"Nucleo-cytoplasmic transport of U snRNPs: Definition of a nuclear location signal in the Sm core domain that binds a transport receptor independently of the m3G cap","volume":"12","author":"Fischer","year":"1993","journal-title":"EMBO J."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"6783","DOI":"10.1093\/emboj\/16.22.6783","article-title":"Nuclear import of U snRNPs requires importin beta","volume":"16","author":"Palacios","year":"1997","journal-title":"EMBO J."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"4114","DOI":"10.1093\/emboj\/17.14.4114","article-title":"Snurportin1, an m3G-cap-specific nuclear import receptor with a novel domain structure","volume":"17","author":"Huber","year":"1998","journal-title":"EMBO J."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0092-8674(00)80550-4","article-title":"Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs","volume":"96","author":"Kambach","year":"1999","journal-title":"Cell"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1038\/ncb1101-945","article-title":"A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs","volume":"3","author":"Meister","year":"2001","journal-title":"Nat. Cell Biol."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1016\/S0960-9822(01)00592-9","article-title":"Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln","volume":"11","author":"Meister","year":"2001","journal-title":"Curr. Biol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"3192","DOI":"10.1091\/mbc.e02-04-0216","article-title":"The product of the survival of motor neuron (SMN) gene is a human telomerase-associated protein","volume":"13","author":"Bachand","year":"2002","journal-title":"Mol. Biol. Cell"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"6533","DOI":"10.1128\/MCB.22.18.6533-6541.2002","article-title":"The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway","volume":"22","author":"Massenet","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1093\/hmg\/11.15.1785","article-title":"SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta","volume":"11","author":"Narayanan","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/S0955-0674(02)00332-0","article-title":"The SMN complex, an assemblyosome of ribonucleoproteins","volume":"14","author":"Paushkin","year":"2002","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_151","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_152","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.molcel.2004.09.024","article-title":"Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein","volume":"16","author":"Narayanan","year":"2004","journal-title":"Mol. Cell"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.cell.2008.09.020","article-title":"An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs","volume":"135","author":"Chari","year":"2008","journal-title":"Cell"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.molcel.2010.03.014","article-title":"Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis","volume":"38","author":"Yong","year":"2010","journal-title":"Mol. Cell"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1002\/wrna.87","article-title":"Biogenesis of spliceosomal small nuclear ribonucleoproteins","volume":"2","author":"Fischer","year":"2011","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1093\/nar\/gkr1056","article-title":"Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs","volume":"40","author":"Makarov","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.nbd.2016.06.015","article-title":"Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy","volume":"94","author":"Borg","year":"2016","journal-title":"Neurobiol. Dis."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"5543","DOI":"10.1128\/MCB.25.13.5543-5551.2005","article-title":"The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy","volume":"25","author":"Wan","year":"2005","journal-title":"Mol. Cell Biol."},{"key":"ref_159","doi-asserted-by":"crossref","unstructured":"Gabanella, F., Butchbach, M.E., Saieva, L., Carissimi, C., Burghes, A.H., and Pellizzoni, L. (2007). Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0000921"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"5825","DOI":"10.1074\/jbc.M608528200","article-title":"A comprehensive interaction map of the human survival of motor neuron (SMN) complex","volume":"282","author":"Otter","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_161","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_162","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1083\/jcb.148.6.1177","article-title":"Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli","volume":"148","author":"Charroux","year":"2000","journal-title":"J. Cell Biol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"31957","DOI":"10.1074\/jbc.M203478200","article-title":"Identification and Characterization of Gemin7, a Novel Component of the Survival of Motor Neuron Complex","volume":"277","author":"Baccon","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"7540","DOI":"10.1074\/jbc.M110141200","article-title":"Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component","volume":"277","author":"Pellizzoni","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"3099","DOI":"10.1093\/hmg\/ddi343","article-title":"Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization","volume":"14","author":"Grimmler","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"8126","DOI":"10.1074\/jbc.M512243200","article-title":"Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly","volume":"281","author":"Carissimi","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"37009","DOI":"10.1074\/jbc.M607505200","article-title":"Gemin8 is required for the architecture and function of the survival motor neuron complex","volume":"281","author":"Carissimi","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0092-8674(00)80367-0","article-title":"The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins","volume":"90","author":"Liu","year":"1997","journal-title":"Cell"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/hmg\/7.8.1269","article-title":"The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding","volume":"7","author":"Lorson","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"11122","DOI":"10.1074\/jbc.M609297200","article-title":"Gemin2 plays an important role in stabilizing the survival of motor neuron complex","volume":"282","author":"Ogawa","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"I37","DOI":"10.1007\/s004150050555","article-title":"The role of SMN in spinal muscular atrophy","volume":"247","author":"Jablonka","year":"2000","journal-title":"J. Neurol."},{"key":"ref_172","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_173","doi-asserted-by":"crossref","first-page":"5598","DOI":"10.1074\/jbc.M707304200","article-title":"In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein","volume":"283","author":"Piazzon","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_174","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_175","doi-asserted-by":"crossref","first-page":"27953","DOI":"10.1074\/jbc.M702317200","article-title":"SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate","volume":"282","author":"Battle","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_176","doi-asserted-by":"crossref","unstructured":"Martinez-Salas, E., Embarc-Buh, A., and Francisco-Velilla, R. (2020). Emerging Roles of Gemin5: From snRNPs Assembly to Translation Control. Int. J. Mol. Sci, 21.","DOI":"10.3390\/ijms21113868"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1146\/annurev.biochem.70.1.755","article-title":"The signal recognition particle","volume":"70","author":"Keenan","year":"2001","journal-title":"Annu. Rev. Biochem."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/nrm2657","article-title":"Delivering proteins for export from the cytosol","volume":"10","author":"Cross","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1600-0854.2011.01171.x","article-title":"Molecular mechanism of co-translational protein targeting by the signal recognition particle","volume":"12","author":"Saraogi","year":"2011","journal-title":"Traffic"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1093\/hmg\/ddr046","article-title":"The COPI vesicle complex binds and moves with survival motor neuron within axons","volume":"20","author":"Peter","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_181","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_182","doi-asserted-by":"crossref","first-page":"4043","DOI":"10.1093\/hmg\/ddt254","article-title":"Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein alpha-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy","volume":"22","author":"Custer","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"7295","DOI":"10.1093\/hmg\/ddv428","article-title":"alpha-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth","volume":"24","author":"Li","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.bbrc.2019.04.176","article-title":"Interaction between alpha-COP and SMN ameliorates disease phenotype in a mouse model of spinal muscular atrophy","volume":"514","author":"Custer","year":"2019","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_185","first-page":"812","article-title":"Time-resolved quantitative proteomics implicates the core snRNP protein SmB together with SMN in neural trafficking","volume":"127","author":"Prescott","year":"2014","journal-title":"J. Cell Sci."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"11559","DOI":"10.1523\/JNEUROSCI.1528-17.2017","article-title":"HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation","volume":"37","author":"Hao","year":"2017","journal-title":"J. Neurosci."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"9599","DOI":"10.1074\/jbc.M009162200","article-title":"A cell system with targeted disruption of the SMN gene: Functional conservation of the SMN protein and dependence of Gemin2 on SMN","volume":"276","author":"Wang","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Li, D.K., Tisdale, S., Espinoza-Derout, J., Saieva, L., Lotti, F., and Pellizzoni, L. (2013). A cell system for phenotypic screening of modifiers of SMN2 gene expression and function. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0071965"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1093\/nar\/gkn979","article-title":"A novel role for Gemin5 in mRNA translation","volume":"37","author":"Pacheco","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"15662","DOI":"10.1074\/jbc.M115.646257","article-title":"Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression","volume":"290","author":"Workman","year":"2015","journal-title":"J. Biol. Chem."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"8335","DOI":"10.1093\/nar\/gkw702","article-title":"The RNA-binding protein Gemin5 binds directly to the ribosome and regulates global translation","volume":"44","author":"Ramajo","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.cell.2017.05.022","article-title":"The Mammalian Ribo-interactome Reveals Ribosome Functional Diversity and Heterogeneity","volume":"169","author":"Simsek","year":"2017","journal-title":"Cell"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"7339","DOI":"10.1093\/nar\/gky361","article-title":"The landscape of the non-canonical RNA-binding site of Gemin5 unveils a feedback loop counteracting the negative effect on translation","volume":"46","author":"Dotu","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1073\/pnas.2007785118","article-title":"Impairment of the neurotrophic signaling hub B-Raf contributes to motoneuron degeneration in spinal muscular atrophy","volume":"118","author":"Hensel","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1038\/83960","article-title":"Specific function of B-Raf in mediating survival of embryonic motoneurons and sensory neurons","volume":"4","author":"Wiese","year":"2001","journal-title":"Nat. Neurosci."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"19348","DOI":"10.1073\/pnas.1319280110","article-title":"Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy","volume":"110","author":"Zhang","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1101\/gr.265017.120","article-title":"LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy","volume":"30","author":"Nichterwitz","year":"2020","journal-title":"Genome Res."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1093\/brain\/awy330","article-title":"Key role of SMN\/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons","volume":"142","author":"Rizzo","year":"2019","journal-title":"Brain"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1136\/jmg.2010.079004","article-title":"The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor","volume":"47","author":"Bernal","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"E1110","DOI":"10.1002\/humu.21173","article-title":"A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy","volume":"31","author":"Vezain","year":"2010","journal-title":"Hum. Mutat"},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","article-title":"A positive modifier of spinal muscular atrophy in the SMN2 gene","volume":"85","author":"Prior","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/ddx166","article-title":"A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy","volume":"26","author":"Wu","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_203","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/ana.410410214","article-title":"Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?","volume":"41","author":"Ingraham","year":"1997","journal-title":"Ann. Neurol."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s00415-005-0912-y","article-title":"SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings","volume":"253","author":"Cusco","year":"2006","journal-title":"J. Neurol."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/ejhg.2008.41","article-title":"Unaffected patients with a homozygous absence of the SMN1 gene","volume":"16","author":"Jedrzejowska","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_207","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_208","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/j.nmd.2017.06.559","article-title":"Longitudinal assessments in discordant twins with SMA","volume":"27","author":"Pane","year":"2017","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.nmd.2011.03.009","article-title":"Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings","volume":"21","author":"Bernal","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1093\/hmg\/dds540","article-title":"Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality","volume":"22","author":"Ackermann","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_211","doi-asserted-by":"crossref","unstructured":"McGovern, V.L., Massoni-Laporte, A., Wang, X., Le, T.T., Le, H.T., Beattie, C.E., Rich, M.M., and Burghes, A.H. (2015). Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the 7 SMA Mouse. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0132364"},{"key":"ref_212","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 Pharm. Sin."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1146\/annurev.cellbio.19.111401.093127","article-title":"Actin assembly and endocytosis: From yeast to mammals","volume":"19","author":"Drubin","year":"2003","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/nbt.3779","article-title":"Cellular uptake and trafficking of antisense oligonucleotides","volume":"35","author":"Crooke","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1007\/s13277-013-0754-7","article-title":"A common gene variant in PLS3 predicts colon cancer recurrence in women","volume":"34","author":"Szkandera","year":"2013","journal-title":"Tumour. Biol."},{"key":"ref_216","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_217","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_218","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1039\/C8IB00091C","article-title":"Automated screening of C. elegans neurodegeneration mutants enabled by microfluidics and image analysis algorithms","volume":"10","author":"Porto","year":"2018","journal-title":"Integr. Biol."},{"key":"ref_219","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_220","doi-asserted-by":"crossref","first-page":"3159","DOI":"10.1093\/hmg\/ddq226","article-title":"PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons","volume":"19","author":"Ning","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"E2371","DOI":"10.1073\/pnas.1301738110","article-title":"Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy","volume":"110","author":"Sen","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1038\/ejhg.2011.85","article-title":"A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites","volume":"19","author":"Chong","year":"2011","journal-title":"Eur. J. Hum. Genet."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/16\/8494\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:42:02Z","timestamp":1760164922000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/16\/8494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,6]]},"references-count":222,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["ijms22168494"],"URL":"https:\/\/doi.org\/10.3390\/ijms22168494","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,6]]}}}