{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T13:17:14Z","timestamp":1770729434148,"version":"3.49.0"},"reference-count":73,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T00:00:00Z","timestamp":1714780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Deutsche Muskelstiftung"},{"name":"Philipp & Freunde\u2014SMA Deutschland"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal Muscular Atrophy is caused by partial loss of survival of motoneuron (SMN) protein expression. The numerous interaction partners and mechanisms influenced by SMN loss result in a complex disease. Current treatments restore SMN protein levels to a certain extent, but do not cure all symptoms. The prolonged survival of patients creates an increasing need for a better understanding of SMA. Although many SMN-protein interactions, dysregulated pathways, and organ phenotypes are known, the connections among them remain largely unexplored. Monogenic diseases are ideal examples for the exploration of cause-and-effect relationships to create a network describing the disease-context. Machine learning tools can utilize such knowledge to analyze similarities between disease-relevant molecules and molecules not described in the disease so far. We used an artificial intelligence-based algorithm to predict new genes of interest. The transcriptional regulation of 8 out of 13 molecules selected from the predicted set were successfully validated in an SMA mouse model. This bioinformatic approach, using the given experimental knowledge for relevance predictions, enhances efficient targeted research in SMA and potentially in other disease settings.<\/jats:p>","DOI":"10.1093\/hmg\/ddae076","type":"journal-article","created":{"date-parts":[[2024,5,5]],"date-time":"2024-05-05T12:27:21Z","timestamp":1714912041000},"page":"1367-1377","source":"Crossref","is-referenced-by-count":3,"title":["From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA)"],"prefix":"10.1093","volume":"33","author":[{"given":"Ines","family":"Tapken","sequence":"first","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Str. 31, Hannover 30625, Germany"},{"name":"Center for Systems Neuroscience (ZSN) , B\u00fcnteweg 2, Hannover 30559, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Kuhn","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Str. 31, Hannover 30625, Germany"},{"name":"Hannover Medical School , Department of Conservative Dentistry, , Carl-Neuberg-Str. 1, Hannover 30625, Germany"},{"name":"Periodontology and Preventive Dentistry , Department of Conservative Dentistry, , Carl-Neuberg-Str. 1, Hannover 30625, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nico","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Str. 31, Hannover 30625, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora T","family":"Detering","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Str. 31, Hannover 30625, Germany"},{"name":"Center for Systems Neuroscience (ZSN) , B\u00fcnteweg 2, Hannover 30559, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Sch\u00fcning","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Str. 31, Hannover 30625, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-No\u00ebl","family":"Billaud","sequence":"additional","affiliation":[{"name":"QIAGEN Digital Insights , 1001 Marshall Street,Redwood City, CA 94063, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart","family":"Tugendreich","sequence":"additional","affiliation":[{"name":"QIAGEN Digital Insights , 1001 Marshall Street,Redwood City, CA 94063, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Schl\u00fcter","sequence":"additional","affiliation":[{"name":"Hannover Medical School , Department of Conservative Dentistry, , Carl-Neuberg-Str. 1, Hannover 30625, Germany"},{"name":"Periodontology and Preventive Dentistry , Department of Conservative Dentistry, , Carl-Neuberg-Str. 1, Hannover 30625, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff","family":"Green","sequence":"additional","affiliation":[{"name":"QIAGEN Digital Insights , 1001 Marshall Street,Redwood City, CA 94063, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Kr\u00e4mer","sequence":"additional","affiliation":[{"name":"QIAGEN Digital Insights , 1001 Marshall Street,Redwood City, CA 94063, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Claus","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH \u2013 Non-Profit Biomedical Research Institute , Feodor-Lynen-Str. 31, Hannover 30625, Germany"},{"name":"Center for Systems Neuroscience (ZSN) , B\u00fcnteweg 2, Hannover 30559, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,5,4]]},"reference":[{"key":"2024072221202618700_ref1","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":"2024072221202618700_ref2","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF01668496","article-title":"Zu chronischer spinaler Muskelatrophie im Kindesalter, auf famili\u00e4rer basis. 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English: two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neuronal basis","volume":"22","author":"Werdnig","year":"1891","journal-title":"In Archiv Psych Nervenerkrankungen"},{"key":"2024072221202618700_ref4","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.nmd.2017.05.011","article-title":"Spinal muscular atrophy: a changing phenotype beyond the clinical trials","volume":"27","author":"Tizzano","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"2024072221202618700_ref5","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1089\/nat.2017.0665","article-title":"FDA approval of nusinersen for spinal muscular atrophy makes 2016 the year of splice modulating oligonucleotides","volume":"27","author":"Aartsma-Rus","year":"2017","journal-title":"Nucleic Acid Ther"},{"key":"2024072221202618700_ref6","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s40265-017-0711-7","article-title":"Nusinersen: 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