{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T06:00:20Z","timestamp":1784786420877,"version":"3.55.0"},"reference-count":136,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Marie Sklodowska-Curie","award":["956185"],"award-info":[{"award-number":["956185"]}]},{"name":"Scientific and Technological Research Council of T\u00fcrkiye T\u00dcBITAK 2219 Program","award":["1059B192200422"],"award-info":[{"award-number":["1059B192200422"]}]},{"DOI":"10.13039\/100011724","name":"MDUK","doi-asserted-by":"publisher","award":["18GRO-PS48-0114"],"award-info":[{"award-number":["18GRO-PS48-0114"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"publisher","award":["SBF006\/1162"],"award-info":[{"award-number":["SBF006\/1162"]}],"id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH Office of Research Infrastructure Programs","award":["P40 OD010440"],"award-info":[{"award-number":["P40 OD010440"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by the reduction of survival of motor neuron (SMN) protein levels. Although three SMN-augmentation therapies are clinically approved that significantly slow down disease progression, they are unfortunately not cures. Thus, complementary SMN-independent therapies that can target key SMA pathologies and that can support the clinically approved SMN-dependent drugs are the forefront of therapeutic development. We have previously demonstrated that prednisolone, a synthetic glucocorticoid (GC) improved muscle health and survival in severe Smn\u2212\/\u2212;SMN2 and intermediate Smn2B\/\u2212 SMA mice. However, long-term administration of prednisolone can promote myopathy. We thus wanted to identify genes and pathways targeted by prednisolone in skeletal muscle to discover clinically approved drugs that are predicted to emulate prednisolone\u2019s activities. Using an RNA-sequencing, bioinformatics, and drug repositioning pipeline on skeletal muscle from symptomatic prednisolone-treated and untreated Smn\u2212\/\u2212; SMN2 SMA and Smn+\/\u2212; SMN2 healthy mice, we identified molecular targets linked to prednisolone\u2019s ameliorative effects and a list of 580 drug candidates with similar predicted activities. Two of these candidates, metformin and oxandrolone, were further investigated in SMA cellular and animal models, which highlighted that these compounds do not have the same ameliorative effects on SMA phenotypes as prednisolone; however, a number of other important drug targets remain. Overall, our work further supports the usefulness of prednisolone\u2019s potential as a second-generation therapy for SMA, identifies a list of potential SMA drug treatments and highlights improvements for future transcriptomic-based drug repositioning studies in SMA.<\/jats:p>","DOI":"10.1093\/hmg\/ddad192","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T09:36:07Z","timestamp":1699263367000},"page":"400-425","source":"Crossref","is-referenced-by-count":9,"title":["A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models"],"prefix":"10.1093","volume":"33","author":[{"given":"Joseph M","family":"Hoolachan","sequence":"first","affiliation":[{"name":"David Weatherall Building, Keele University School of Medicine, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve","family":"McCallion","sequence":"additional","affiliation":[{"name":"David Weatherall Building, Keele University School of Medicine, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma R","family":"Sutton","sequence":"additional","affiliation":[{"name":"David Weatherall Building, Keele University School of Medicine, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6zge","family":"\u00c7etin","sequence":"additional","affiliation":[{"name":"David Weatherall Building, Keele University School of Medicine, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"Pacheco-Torres","sequence":"additional","affiliation":[{"name":"University of Hertfordshire School of Life and Medical Sciences, , Hatfield, Hertfordshire, AL910 9AB , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Dimitriadi","sequence":"additional","affiliation":[{"name":"University of Hertfordshire School of Life and Medical Sciences, , Hatfield, Hertfordshire, AL910 9AB , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suat","family":"Sari","sequence":"additional","affiliation":[{"name":"Hacettepe University Department of Pharmaceutical Chemistry, , Ankara, 06100 , Turkey"},{"name":"Keele University School of Chemical and Physical Sciences, Lennard-Jones Building, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin J","family":"Miller","sequence":"additional","affiliation":[{"name":"Keele University School of Chemical and Physical Sciences, Lennard-Jones Building, , Staffordshire, ST5 5BG , United Kingdom"},{"name":"Keele University Centre for Glycoscience, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Okoh","sequence":"additional","affiliation":[{"name":"David Weatherall Building, Keele University School of Medicine, , Staffordshire, ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M","family":"Walter","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Stra\u00dfe 31, 30625, Hannover , Germany"},{"name":"Hannover Medical School Centre of Systems Neuroscience (ZSN), , B\u00fcnteweg 2, 30559, Hannover , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Claus","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Stra\u00dfe 31, 30625, Hannover , Germany"},{"name":"Hannover Medical School Centre of Systems Neuroscience (ZSN), , B\u00fcnteweg 2, 30559, Hannover , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew J A","family":"Wood","sequence":"additional","affiliation":[{"name":"University of Oxford Department of Paediatrics, , Level 2, Children's Hospital, John Radcliffe, Headington Oxford, OX3 9DU , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel P","family":"Tonge","sequence":"additional","affiliation":[{"name":"Keele University School of Life Sciences, Huxley Building, , Staffordshire ST5 5BG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Bowerman","sequence":"additional","affiliation":[{"name":"David Weatherall Building, Keele University School of Medicine, , Staffordshire, ST5 5BG , United Kingdom"},{"name":"RJAH Orthopaedic Hospital Wolfson Centre for Inherited Neuromuscular Disease, , Oswestry, SY10 7AG , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,11,8]]},"reference":[{"key":"2024022010051496300_ref1","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin"},{"key":"2024022010051496300_ref2","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1038\/s41372-019-0451-5","article-title":"Infant mortality: the contribution of genetic disorders","volume":"39","author":"Wojcik","year":"2019","journal-title":"J Perinatol"},{"key":"2024022010051496300_ref3","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":"2024022010051496300_ref4","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/hmg\/4.4.631","article-title":"Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy","volume":"4","author":"Rodrigues","year":"1995","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref5","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":"2024022010051496300_ref6","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/hmg\/ddy195","article-title":"Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy","volume":"27","author":"Groen","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref7","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.bbagrm.2016.12.008","article-title":"Diverse role of survival motor neuron protein","volume":"1860","author":"Singh","year":"2017","journal-title":"Biochim Biophys Acta"},{"key":"2024022010051496300_ref8","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\u2009embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc Natl Acad Sci"},{"key":"2024022010051496300_ref9","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/hmg\/9.3.333","article-title":"The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(\u2212\/\u2212) mice and results in a mouse with spinal muscular atrophy","volume":"9","author":"Monani","year":"2000","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref10","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s004390100473","article-title":"SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to homo sapiens","volume":"108","author":"Rochette","year":"2001","journal-title":"Hum Genet"},{"key":"2024022010051496300_ref11","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 U S A"},{"key":"2024022010051496300_ref12","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":"2024022010051496300_ref13","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":"2024022010051496300_ref14","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":"2024022010051496300_ref15","doi-asserted-by":"crossref","first-page":"e00447","DOI":"10.1002\/prp2.447","article-title":"Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs","volume":"6","author":"Poirier","year":"2018","journal-title":"Pharmacol Res Perspect"},{"key":"2024022010051496300_ref16","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.94.15_supplement.1302","article-title":"FIREFISH part 2: efficacy and safety of risdiplam (RG7916) in infants with type 1 spinal muscular atrophy (SMA) (1302)","volume":"94","author":"Servais","year":"2020","journal-title":"Neurology"},{"key":"2024022010051496300_ref17","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3233\/JND-190403","article-title":"AVXS-101 (Onasemnogene Abeparvovec) for SMA1: comparative study with a prospective natural history cohort","volume":"6","author":"Al-Zaidy","year":"2019","journal-title":"J Neuromuscul Dis"},{"key":"2024022010051496300_ref18","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":"2024022010051496300_ref19","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":"2024022010051496300_ref20","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.2147\/TCRM.S172291","article-title":"Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives","volume":"Volume 15","author":"Dangouloff","year":"2019","journal-title":"Ther Clin Risk Manag"},{"key":"2024022010051496300_ref21","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1242\/dmm.030148","article-title":"Therapeutic strategies for spinal muscular atrophy: SMN and beyond","volume":"10","author":"Bowerman","year":"2017","journal-title":"Dis Model Mech"},{"key":"2024022010051496300_ref22","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1097\/NEN.0000000000000078","article-title":"Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy","volume":"73","author":"Mart\u00ednez-Hern\u00e1ndez","year":"2014","journal-title":"J Neuropathol Exp Neurol"},{"key":"2024022010051496300_ref23","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ydbio.2012.05.037","article-title":"A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein","volume":"368","author":"Hayhurst","year":"2012","journal-title":"Dev Biol"},{"key":"2024022010051496300_ref24","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/2044-5040-3-24","article-title":"Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy","volume":"3","author":"Boyer","year":"2013","journal-title":"Skelet Muscle"},{"key":"2024022010051496300_ref25","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/j.1365-2990.2008.00950.x","article-title":"Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions","volume":"34","author":"Stevens","year":"2008","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2024022010051496300_ref26","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1097\/NEN.0b013e3181a10ea1","article-title":"The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation","volume":"68","author":"Mart\u00ednez-Hern\u00e1ndez","year":"2009","journal-title":"J Neuropathol Exp Neurol"},{"key":"2024022010051496300_ref27","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ebiom.2018.04.024","article-title":"Interventions targeting glucocorticoid-Kr\u00fcppel-like factor 15-branched-chain amino acid Signaling improve disease phenotypes in spinal muscular atrophy mice","volume":"31","author":"Walter","year":"2018","journal-title":"EBioMedicine"},{"key":"2024022010051496300_ref28","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.94.15_supplement.4534","article-title":"A phase 2 study to evaluate the efficacy and safety of SRK-015 in patients with later-onset spinal muscular atrophy (TOPAZ): an introduction (4534)","volume":"94","author":"Place","year":"2020","journal-title":"Neurology"},{"key":"2024022010051496300_ref29","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1007\/s13311-020-01004-3","article-title":"Reldesemtiv in patients with spinal muscular atrophy: a phase 2 hypothesis-generating study","volume":"18","author":"Rudnicki","year":"2021","journal-title":"Neurotherapeutics"},{"key":"2024022010051496300_ref30","first-page":"172","article-title":"The cost of new drug discovery and development","volume":"4","author":"Dickson","year":"2004","journal-title":"Discov Med"},{"key":"2024022010051496300_ref31","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/s13023-021-01695-7","article-title":"Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments","volume":"16","author":"Dangouloff","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2024022010051496300_ref32","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1080\/17460441.2020.1704729","article-title":"Challenges and opportunities with drug repurposing: finding strategies to find alternative uses of therapeutics","volume":"15","author":"Talevi","year":"2020","journal-title":"Expert Opin Drug Discovery"},{"key":"2024022010051496300_ref33","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1159\/000362724","article-title":"One hormone, two actions: anti- and pro-inflammatory effects of glucocorticoids","volume":"22","author":"Cruz-Topete","year":"2015","journal-title":"Neuroimmunomodulation"},{"key":"2024022010051496300_ref34","article-title":"Corticosteroids for the treatment of Duchenne muscular dystrophy","volume":"2016","author":"Matthews","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"key":"2024022010051496300_ref35","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1136\/jnnp-2012-303902","article-title":"Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy","volume":"84","author":"Ricotti","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2024022010051496300_ref36","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1002\/mus.26490","article-title":"Intermittent glucocorticoid regimes for younger boys with duchenne muscular dystrophy: balancing efficacy with side effects","volume":"59","author":"McMillan","year":"2019","journal-title":"Muscle Nerve"},{"key":"2024022010051496300_ref37","doi-asserted-by":"crossref","first-page":"E6780","DOI":"10.1073\/pnas.1512968112","article-title":"Glucocorticoids enhance muscle endurance and ameliorate Duchenne muscular dystrophy through a defined metabolic program","volume":"112","author":"Morrison-Nozik","year":"2015","journal-title":"Proc Natl Acad Sci"},{"key":"2024022010051496300_ref38","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1073\/pnas.81.4.1189","article-title":"X chromosome-linked muscular dystrophy (mdx) in the mouse","volume":"81","author":"Bulfield","year":"1984","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024022010051496300_ref39","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1517\/14740338.2016.1140743","article-title":"Long-term side effects of glucocorticoids","volume":"15","author":"Oray","year":"2016","journal-title":"Expert Opin Drug Saf"},{"key":"2024022010051496300_ref40","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li","year":"2000","journal-title":"Nat Genet"},{"key":"2024022010051496300_ref41","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/hmg\/ddi078","article-title":"SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN","volume":"14","author":"Le","year":"2005","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref42","doi-asserted-by":"crossref","first-page":"149446","DOI":"10.1172\/jci.insight.149446","article-title":"Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy","volume":"6","author":"Meijboom","year":"2021","journal-title":"JCI Insight"},{"key":"2024022010051496300_ref43","doi-asserted-by":"crossref","first-page":"28846","DOI":"10.1038\/srep28846","article-title":"Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy","volume":"6","author":"Deguise","year":"2016","journal-title":"Sci Rep"},{"key":"2024022010051496300_ref44","doi-asserted-by":"crossref","first-page":"3767","DOI":"10.1016\/j.celrep.2017.12.003","article-title":"Converging mechanisms of p53 activation drive motor neuron degeneration in spinal muscular atrophy","volume":"21","author":"Simon","year":"2017","journal-title":"Cell Rep"},{"key":"2024022010051496300_ref45","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/s13311-015-0399-x","article-title":"Chronic treatment with the AMPK agonist AICAR prevents skeletal muscle pathology but fails to improve clinical outcome in a mouse model of severe spinal muscular atrophy","volume":"13","author":"Cerver\u00f3","year":"2016","journal-title":"Neurotherapeutics"},{"key":"2024022010051496300_ref46","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/jamaneurol.2015.0178","article-title":"Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy","volume":"72","author":"Ripolone","year":"2015","journal-title":"JAMA Neurol"},{"key":"2024022010051496300_ref47","doi-asserted-by":"crossref","first-page":"3582","DOI":"10.1093\/hmg\/ddy249","article-title":"Light modulation ameliorates expression of circadian genes and disease progression in spinal muscular atrophy mice","volume":"27","author":"Walter","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref48","doi-asserted-by":"crossref","first-page":"4757","DOI":"10.1113\/JP278454","article-title":"Mechanisms of exercise-induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy-like mice","volume":"597","author":"Ng","year":"2019","journal-title":"J Physiol"},{"key":"2024022010051496300_ref49","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s40478-021-01223-5","article-title":"Spinal muscular atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons","volume":"9","author":"Sansa","year":"2021","journal-title":"Acta Neuropathol Commun"},{"key":"2024022010051496300_ref50","doi-asserted-by":"crossref","first-page":"7.15.1","DOI":"10.1002\/cpbi.24","article-title":"Identifying significantly impacted pathways and putative mechanisms with iPathwayGuide","volume":"57","author":"Ahsan","year":"2017","journal-title":"Curr Protoc Bioinformatics"},{"key":"2024022010051496300_ref51","doi-asserted-by":"crossref","first-page":"D1068","DOI":"10.1093\/nar\/gkx1143","article-title":"DGIdb 3.0: a redesign and expansion of the drug\u2013gene interaction database","volume":"46","author":"Cotto","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2024022010051496300_ref52","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1097\/SPC.0000000000000382","article-title":"Preservation of muscle mass as a strategy to reduce the toxic effects of cancer chemotherapy on body composition","volume":"12","author":"Pin","year":"2018","journal-title":"Curr Opin Support Palliat Care"},{"key":"2024022010051496300_ref53","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":"2024022010051496300_ref54","doi-asserted-by":"crossref","first-page":"e115473","DOI":"10.1371\/journal.pone.0115473","article-title":"Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy","volume":"9","author":"Mack","year":"2014","journal-title":"PLoS One"},{"key":"2024022010051496300_ref55","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1758-5996-5-6","article-title":"Metformin: an old but still the best treatment for type 2 diabetes","volume":"5","author":"Rojas","year":"2013","journal-title":"Diabetol Metab Syndr"},{"key":"2024022010051496300_ref56","doi-asserted-by":"crossref","first-page":"725","DOI":"10.2165\/00003495-200464070-00004","article-title":"The anabolic androgenic steroid oxandrolone in the treatment of wasting and catabolic disorders: review of efficacy and safety","volume":"64","author":"Orr","year":"2004","journal-title":"Drugs"},{"key":"2024022010051496300_ref57","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1096\/fj.201700442R","article-title":"AMPK in skeletal muscle function and metabolism","volume":"32","author":"Kj\u00f8bsted","year":"2018","journal-title":"FASEB J"},{"key":"2024022010051496300_ref58","first-page":"e2020086","article-title":"The clinical application of metformin in children and adolescents: a short update","volume":"91","author":"Soliman","year":"2020","journal-title":"Acta Biomed"},{"key":"2024022010051496300_ref59","doi-asserted-by":"crossref","first-page":"e1914171","DOI":"10.1001\/jamanetworkopen.2019.14171","article-title":"Effect of combination l-Citrulline and metformin treatment on motor function in patients with Duchenne muscular dystrophy: a randomized clinical trial","volume":"2","author":"Hafner","year":"2019","journal-title":"JAMA Netw Open"},{"key":"2024022010051496300_ref60","doi-asserted-by":"crossref","first-page":"16302","DOI":"10.1038\/s41598-018-34362-2","article-title":"Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact study","volume":"8","author":"Fontes-Oliveira","year":"2018","journal-title":"Sci Rep"},{"key":"2024022010051496300_ref61","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1113\/jphysiol.2006.120972","article-title":"Predominant \u03b12\/\u03b22\/\u03b33 AMPK activation during exercise in human skeletal muscle","volume":"577","author":"Birk","year":"2006","journal-title":"J Physiol"},{"key":"2024022010051496300_ref62","doi-asserted-by":"crossref","first-page":"143","DOI":"10.3892\/ijmm.2021.4976","article-title":"Role and mechanism underlying FoxO6 in skeletal muscle in vitro and in vivo","volume":"48","author":"Zhang","year":"2021","journal-title":"Int J Mol Med"},{"key":"2024022010051496300_ref63","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13395-022-00305-9","article-title":"Mouse models of SMA show divergent patterns of neuronal vulnerability and resilience","volume":"12","author":"Woschitz","year":"2022","journal-title":"Skelet Muscle"},{"key":"2024022010051496300_ref64","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1038\/s41598-017-01617-3","article-title":"Benchmarking of RNA-sequencing analysis workflows using whole-transcriptome RT-qPCR expression data","volume":"7","author":"Everaert","year":"2017","journal-title":"Sci Rep"},{"key":"2024022010051496300_ref65","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.yexcr.2005.08.019","article-title":"Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology","volume":"311","author":"Shafey","year":"2005","journal-title":"Exp Cell Res"},{"key":"2024022010051496300_ref66","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1741-7015-7-14","article-title":"Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy","volume":"7","author":"Millino","year":"2009","journal-title":"BMC Med"},{"key":"2024022010051496300_ref67","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1186\/1471-2164-9-630","article-title":"Meta-analysis of expression signatures of muscle atrophy: gene interaction networks in early and late stages","volume":"9","author":"Calura","year":"2008","journal-title":"BMC Genomics"},{"key":"2024022010051496300_ref68","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1002\/jcb.29327","article-title":"Effect of metformin on myotube BCAA catabolism","volume":"121","author":"Rivera","year":"2020","journal-title":"J Cell Biochem"},{"key":"2024022010051496300_ref69","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.nmd.2011.09.007","article-title":"A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology","volume":"22","author":"Bowerman","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"2024022010051496300_ref70","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.23582","article-title":"Glucose metabolism and pancreatic defects in spinal muscular atrophy","volume":"72","author":"Bowerman","year":"2012","journal-title":"Ann Neurol"},{"key":"2024022010051496300_ref71","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/acn3.50855","article-title":"Abnormal fatty acid metabolism is a core component of spinal muscular atrophy","volume":"6","author":"Deguise","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"2024022010051496300_ref72","doi-asserted-by":"crossref","first-page":"4249","DOI":"10.1093\/hmg\/ddu142","article-title":"Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy","volume":"23","author":"Boyer","year":"2014","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref73","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/S0140-6736(95)91439-0","article-title":"Hypoglycaemia in spinal muscular atrophy","volume":"346","author":"Bruce","year":"1995","journal-title":"Lancet"},{"key":"2024022010051496300_ref74","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.nmd.2021.02.002","article-title":"Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3","volume":"31","author":"Djordjevic","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"2024022010051496300_ref75","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/0092-8674(89)90968-9","article-title":"Identification of a novel gene encoding an insulin-responsive glucose transporter protein","volume":"57","author":"Birnbaum","year":"1989","journal-title":"Cell"},{"key":"2024022010051496300_ref76","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/s41467-017-02733-4","article-title":"Hexokinase-2 depletion inhibits glycolysis and induces oxidative phosphorylation in hepatocellular carcinoma and sensitizes to metformin","volume":"9","author":"DeWaal","year":"2018","journal-title":"Nat Commun"},{"key":"2024022010051496300_ref77","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1042\/bj3480607","article-title":"Evidence that metformin exerts its anti-diabetic effects through inhibition of complex 1 of the mitochondrial respiratory chain","volume":"348","author":"Owen","year":"2000","journal-title":"Biochem J"},{"key":"2024022010051496300_ref78","doi-asserted-by":"crossref","first-page":"81","DOI":"10.2165\/11534750-000000000-00000","article-title":"Clinical pharmacokinetics of metformin","volume":"50","author":"Graham","year":"2011","journal-title":"Clin Pharmacokinet"},{"key":"2024022010051496300_ref79","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/S1734-1140(10)70357-1","article-title":"Quantification of metformin by the HPLC method in brain regions, cerebrospinal fluid and plasma of rats treated with lipopolysaccharide","volume":"62","author":"\u0141abuzek","year":"2010","journal-title":"Pharmacol Rep"},{"key":"2024022010051496300_ref80","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/jnc.13562","article-title":"Metformin-induced mitochondrial function and ABCD2 up-regulation in X-linked adrenoleukodystrophy involves AMP-activated protein kinase","volume":"138","author":"Singh","year":"2016","journal-title":"J Neurochem"},{"key":"2024022010051496300_ref81","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1212\/WNL.48.5.1225","article-title":"A beneficial effect of oxandrolone in the treatment of Duchenne muscular dystrophy: a pilot study","volume":"48","author":"Fenichel","year":"1997","journal-title":"Neurology"},{"key":"2024022010051496300_ref82","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1097\/00000658-200104000-00012","article-title":"Anabolic effects of oxandrolone after severe burn","volume":"233","author":"Hart","year":"2001","journal-title":"Ann Surg"},{"key":"2024022010051496300_ref83","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1083\/jcb.200712110","article-title":"IGFBP-5 regulates muscle cell differentiation by binding to IGF-II and switching on the IGF-II auto-regulation loop","volume":"182","author":"Ren","year":"2008","journal-title":"J Cell Biol"},{"key":"2024022010051496300_ref84","doi-asserted-by":"crossref","first-page":"e60445","DOI":"10.7554\/eLife.60445","article-title":"Myogenin is an essential regulator of adult myofibre growth and muscle stem cell homeostasis","volume":"9","author":"Ganassi","year":"2020","journal-title":"elife"},{"key":"2024022010051496300_ref85","doi-asserted-by":"crossref","first-page":"25323","DOI":"10.1074\/jbc.M212430200","article-title":"Two new substrates in insulin signaling, IRS5\/DOK4 and IRS6\/DOK5","volume":"278","author":"Cai","year":"2003","journal-title":"J Biol Chem"},{"key":"2024022010051496300_ref86","doi-asserted-by":"crossref","first-page":"16523","DOI":"10.1038\/srep16523","article-title":"AKAP6 inhibition impairs myoblast differentiation and muscle regeneration: positive loop between AKAP6 and myogenin","volume":"5","author":"Lee","year":"2015","journal-title":"Sci Rep"},{"key":"2024022010051496300_ref87","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1210\/en.2009-0530","article-title":"REDD1 is a major target of testosterone action in preventing dexamethasone-induced muscle loss","volume":"151","author":"Wu","year":"2010","journal-title":"Endocrinology"},{"key":"2024022010051496300_ref88","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s13539-014-0139-9","article-title":"Attenuation of muscle wasting in murine C2C 12 myotubes by epigallocatechin-3-gallate","volume":"5","author":"Mirza","year":"2014","journal-title":"J Cachexia Sarcopenia Muscle"},{"key":"2024022010051496300_ref89","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1097\/WNR.0b013e32832c5cc2","article-title":"Improved functional recovery with oxandrolone after spinal cord injury in rats","volume":"20","author":"Zeman","year":"2009","journal-title":"Neuroreport"},{"key":"2024022010051496300_ref90","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.burns.2018.10.006","article-title":"Oxandrolone protects against the development of multiorgan failure, modulates the systemic inflammatory response and promotes wound healing during burn injury","volume":"45","author":"Ahmad","year":"2019","journal-title":"Burns"},{"key":"2024022010051496300_ref91","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1093\/hmg\/ddn320","article-title":"Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan","volume":"18","author":"Briese","year":"2009","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref92","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1093\/hmg\/8.5.775","article-title":"The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution","volume":"8","author":"Bertrandy","year":"1999","journal-title":"Hum Mol Genet"},{"key":"2024022010051496300_ref93","doi-asserted-by":"crossref","first-page":"E4377","DOI":"10.1073\/pnas.1600015113","article-title":"Decreased function of survival motor neuron protein impairs endocytic pathways","volume":"113","author":"Dimitriadi","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024022010051496300_ref94","doi-asserted-by":"crossref","first-page":"7244","DOI":"10.1074\/jbc.M510461200","article-title":"Opposite transcriptional regulation in skeletal muscle of AMP-activated protein kinase gamma3 R225Q transgenic versus knock-out mice","volume":"281","author":"Nilsson","year":"2006","journal-title":"J Biol Chem"},{"key":"2024022010051496300_ref95","doi-asserted-by":"crossref","first-page":"3484","DOI":"10.2337\/diabetes.54.12.3484","article-title":"Changes in exercise-induced gene expression in 5\u2019-AMP-activated protein kinase gamma3-null and gamma3 R225Q transgenic mice","volume":"54","author":"Barnes","year":"2005","journal-title":"Diabetes"},{"key":"2024022010051496300_ref96","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1528-1157.1990.tb05371.x","article-title":"Adenosinergic modulation of homocysteine-induced seizures in mice","volume":"31","author":"Marangos","year":"1990","journal-title":"Epilepsia"},{"key":"2024022010051496300_ref97","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1111\/j.1432-1033.1995.tb20498.x","article-title":"5-aminoimidazole-4-carboxamide ribonucleoside. A specific method for activating AMP-activated protein kinase in intact cells?","volume":"229","author":"Corton","year":"1995","journal-title":"Eur J Biochem"},{"key":"2024022010051496300_ref98","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1038\/nature06161","article-title":"Structural basis for AMP binding to mammalian AMP-activated protein kinase","volume":"449","author":"Xiao","year":"2007","journal-title":"Nature"},{"key":"2024022010051496300_ref99","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1186\/s40478-020-01101-6","article-title":"Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons","volume":"8","author":"Thelen","year":"2020","journal-title":"Acta Neuropathol Commun"},{"key":"2024022010051496300_ref100","doi-asserted-by":"crossref","first-page":"167","DOI":"10.18388\/abp.2014_883","article-title":"Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report","volume":"62","author":"Borkowska","year":"2015","journal-title":"Acta Biochim Pol"},{"key":"2024022010051496300_ref101","doi-asserted-by":"crossref","first-page":"MON-154","DOI":"10.1210\/js.2019-MON-154","article-title":"MON-154 abnormal glucose homeostasis in spinal muscular atrophy (SMA) leading to a transient episode of diabetic ketoacidosis (DKA)","volume":"3","author":"Hossain","year":"2019","journal-title":"J Endocr Soc"},{"key":"2024022010051496300_ref102","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3233\/JND-230011","article-title":"Sex difference in spinal muscular atrophy patients \u2013 are males more vulnerable?","volume":"10","author":"Sun","year":"2023","journal-title":"J Neuromuscul Dis"},{"key":"2024022010051496300_ref103","doi-asserted-by":"crossref","first-page":"2676","DOI":"10.1096\/fj.08-105726","article-title":"Impaired skeletal muscle development and function in male, but not female, genomic androgen receptor knockout mice","volume":"22","author":"MacLean","year":"2008","journal-title":"FASEB. J"},{"key":"2024022010051496300_ref104","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2018.01373","article-title":"Muscle androgen receptor content but not systemic hormones is associated with resistance training-induced skeletal muscle hypertrophy in healthy, young men","volume":"9","author":"Morton","year":"2018","journal-title":"Front Physiol"},{"key":"2024022010051496300_ref105","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2016.03.014","article-title":"On the dependency of cellular protein levels on mRNA abundance","volume":"165","author":"Liu","year":"2016","journal-title":"Cell"},{"key":"2024022010051496300_ref106","doi-asserted-by":"crossref","first-page":"29","DOI":"10.32607\/20758251-2009-1-3-29-51","article-title":"Chemical and functional aspects of posttranslational modification of proteins","volume":"1","author":"Knorre","year":"2009","journal-title":"Acta Nat"},{"key":"2024022010051496300_ref107","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1111\/jnc.14953","article-title":"Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy","volume":"153","author":"Kessler","year":"2020","journal-title":"J Neurochem"},{"key":"2024022010051496300_ref108","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/978-1-4939-9488-5_22","article-title":"Metabolomics analyses of muscle atrophy induced by hind limb unloading","volume":"1996","author":"Gardell","year":"2019","journal-title":"Methods Mol Biol"},{"key":"2024022010051496300_ref109","doi-asserted-by":"crossref","first-page":"e35462","DOI":"10.1371\/journal.pone.0035462","article-title":"Candidate proteins, metabolites and transcripts in the biomarkers for spinal muscular atrophy (BforSMA) clinical study","volume":"7","author":"Finkel","year":"2012","journal-title":"PLoS One"},{"key":"2024022010051496300_ref110","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13395-020-00236-3","article-title":"A reference single-cell transcriptomic atlas of human skeletal muscle tissue reveals bifurcated muscle stem cell populations","volume":"10","author":"De Micheli","year":"2020","journal-title":"Skelet Muscle"},{"key":"2024022010051496300_ref111","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.835099","article-title":"Heterogeneous skeletal muscle cell and nucleus populations identified by single-cell and single-nucleus resolution transcriptome assays","volume":"13","author":"Williams","year":"2022","journal-title":"Front Genet"},{"key":"2024022010051496300_ref112","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1093\/brain\/awab411","article-title":"Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy","volume":"145","author":"Habets","year":"2022","journal-title":"Brain"},{"key":"2024022010051496300_ref113","doi-asserted-by":"crossref","first-page":"105415","DOI":"10.1016\/j.isci.2022.105415","article-title":"Single cell sequencing maps skeletal muscle cellular diversity as disease severity increases in dystrophic mouse models","volume":"25","author":"Saleh","year":"2022","journal-title":"iScience"},{"key":"2024022010051496300_ref114","doi-asserted-by":"crossref","first-page":"29691","DOI":"10.1073\/pnas.2018391117","article-title":"Degenerative and regenerative pathways underlying Duchenne muscular dystrophy revealed by single-nucleus RNA sequencing","volume":"117","author":"Chemello","year":"2020","journal-title":"Proc Natl Acad Sci"},{"key":"2024022010051496300_ref115","first-page":"55261","article-title":"Neurodevelopmental reflex testing in neonatal rat pups","volume":"122","author":"Nguyen","year":"2017","journal-title":"J Vis Exp"},{"key":"2024022010051496300_ref116","doi-asserted-by":"crossref","first-page":"W537","DOI":"10.1093\/nar\/gky379","article-title":"The galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update","volume":"46","author":"Afgan","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"2024022010051496300_ref117","volume-title":"FastQC A Quality Control tool for High Throughput Sequence Data","author":"Babraham Bioinformatics"},{"key":"2024022010051496300_ref118","volume":"30"},{"key":"2024022010051496300_ref119","author":"FASTX-Toolkit"},{"key":"2024022010051496300_ref120","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/s41587-019-0201-4","article-title":"Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype","volume":"37","author":"Kim","year":"2019","journal-title":"Nat Biotechnol"},{"key":"2024022010051496300_ref121","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","article-title":"featureCounts: an efficient general purpose program for assigning sequence reads to genomic features","volume":"30","author":"Liao","year":"2014","journal-title":"Bioinformatics"},{"key":"2024022010051496300_ref122","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1093\/bioinformatics\/btw354","article-title":"MultiQC: summarize analysis results for multiple tools and samples in a single report","volume":"32","author":"Ewels","year":"2016","journal-title":"Bioinformatics"},{"key":"2024022010051496300_ref123","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol"},{"key":"2024022010051496300_ref124","doi-asserted-by":"crossref","first-page":"D353","DOI":"10.1093\/nar\/gkw1092","article-title":"KEGG: new perspectives on genomes, pathways, diseases and drugs","volume":"45","author":"Kanehisa","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"2024022010051496300_ref125","first-page":"98","article-title":"Global functional profiling of gene expression","volume":"81","author":"Draghici","year":"2003","journal-title":"Genomics"},{"key":"2024022010051496300_ref126","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1186\/1756-0500-4-267","article-title":"GO trimming: systematically reducing redundancy in large gene ontology datasets","volume":"4","author":"Jantzen","year":"2011","journal-title":"BMC Res Notes"},{"key":"2024022010051496300_ref127","doi-asserted-by":"crossref","first-page":"D330","DOI":"10.1093\/nar\/gky1055","article-title":"The gene ontology resource: 20 years and still going strong","volume":"47","author":"The Gene Ontology Consortium","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2024022010051496300_ref128","doi-asserted-by":"crossref","first-page":"4291","DOI":"10.1021\/acs.jctc.1c00302","article-title":"OPLS4: improving force field accuracy on challenging regimes of chemical space","volume":"17","author":"Lu","year":"2021","journal-title":"J Chem Theory Comput"},{"key":"2024022010051496300_ref129","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/nar\/28.1.235","article-title":"The protein data bank","volume":"28","author":"Berman","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"2024022010051496300_ref130","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s10822-013-9644-8","article-title":"Protein and ligand preparation: parameters, protocols, and influence on virtual screening enrichments","volume":"27","author":"Sastry","year":"2013","journal-title":"J Comput Aided Mol Des"},{"key":"2024022010051496300_ref131","doi-asserted-by":"crossref","first-page":"6177","DOI":"10.1021\/jm051256o","article-title":"Extra precision glide: docking and scoring incorporating a model of hydrophobic enclosure for protein-ligand complexes","volume":"49","author":"Friesner","year":"2006","journal-title":"J Med Chem"},{"key":"2024022010051496300_ref132","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/270725a0","article-title":"Serial passaging and differentiation of myogenic cells isolated from dystrophic mouse muscle","volume":"270","author":"Yaffe","year":"1977","journal-title":"Nature"},{"key":"2024022010051496300_ref133","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"2024022010051496300_ref134","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1016\/j.bbrc.2003.11.177","article-title":"Guideline to reference gene selection for quantitative real-time PCR","volume":"313","author":"Radoni\u0107","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"key":"2024022010051496300_ref135","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1186\/s12859-021-04306-1","article-title":"Web-based LinRegPCR: application for the visualization and analysis of (RT)-qPCR amplification and melting data","volume":"22","author":"Untergasser","year":"2021","journal-title":"BMC Bioinformatics"},{"key":"2024022010051496300_ref136","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/genetics\/77.1.71","article-title":"The genetics of Caenorhabditis elegans","volume":"77","author":"Brenner","year":"1974","journal-title":"Genetics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddad192\/53687910\/ddad192.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/5\/400\/56698538\/ddad192.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/33\/5\/400\/56698538\/ddad192.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T05:09:59Z","timestamp":1708405799000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/33\/5\/400\/7382155"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,8]]},"references-count":136,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,11,8]]},"published-print":{"date-parts":[[2024,2,18]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddad192","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.06.14.544899","asserted-by":"object"}]},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,3,1]]},"published":{"date-parts":[[2023,11,8]]}}}