{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:26:25Z","timestamp":1789424785416,"version":"build-2803163510"},"reference-count":83,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T00:00:00Z","timestamp":1724630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Deutsche Muskelstiftung"},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["956185"],"award-info":[{"award-number":["956185"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["#23692"],"award-info":[{"award-number":["#23692"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["GGP19115"],"award-info":[{"award-number":["GGP19115"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["GMR23T1048"],"award-info":[{"award-number":["GMR23T1048"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["CN00000041"],"award-info":[{"award-number":["CN00000041"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["GER-SPN-19-11493"],"award-info":[{"award-number":["GER-SPN-19-11493"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["1DH2011115"],"award-info":[{"award-number":["1DH2011115"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Monogenic diseases are well-suited paradigms for the causal analysis of disease-driving molecular patterns. Spinal muscular atrophy (SMA) is one such monogenic model, caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. Although several functions of the SMN protein have been studied, single functions and pathways alone do not allow the identification of crucial disease-driving molecules.<\/jats:p>\n               <jats:p>Here, we analysed the systemic characteristics of SMA, using proteomics, phosphoproteomics, translatomics and interactomics, from two mouse models with different disease severities and genetics.<\/jats:p>\n               <jats:p>This systems approach revealed subnetworks and proteins characterizing commonalities and differences of both models. To link the identified molecular networks with the disease-causing SMN protein, we combined SMN-interactome data with both proteomes, creating a comprehensive representation of SMA. By this approach, disease hubs and bottlenecks between SMN and downstream pathways could be identified.<\/jats:p>\n               <jats:p>Linking a disease-causing molecule with widespread molecular dysregulations via multiomics is a concept for analyses of monogenic diseases.<\/jats:p>","DOI":"10.1093\/brain\/awae272","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T02:06:11Z","timestamp":1724637971000},"page":"580-596","source":"Crossref","is-referenced-by-count":12,"title":["The systemic complexity of a monogenic disease: the molecular network of spinal muscular atrophy"],"prefix":"10.1093","volume":"148","author":[{"given":"Ines","family":"Tapken","sequence":"first","affiliation":[{"name":"SMATHERIA gGmbH\u2014Non-Profit Biomedical Research Institute , Hannover 30625 ,","place":["Germany"]},{"name":"Center for Systems Neuroscience (ZSN) , Hannover 30559 ,","place":["Germany"]},{"name":"Research Core Unit Proteomics, Hannover Medical School (MHH) , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Schweitzer","sequence":"additional","affiliation":[{"name":"Research Core Unit Proteomics, Hannover Medical School (MHH) , Hannover 30625 ,","place":["Germany"]},{"name":"Institute of Toxicology, Hannover Medical School (MHH) , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Paganin","sequence":"additional","affiliation":[{"name":"CNR Unit, Institute of Biophysics , Trento 38123 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Sch\u00fcning","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH\u2014Non-Profit Biomedical Research Institute , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora T","family":"Detering","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH\u2014Non-Profit Biomedical Research Institute , Hannover 30625 ,","place":["Germany"]},{"name":"Center for Systems Neuroscience (ZSN) , Hannover 30559 ,","place":["Germany"]},{"name":"Research Core Unit Proteomics, Hannover Medical School (MHH) , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaurav","family":"Sharma","sequence":"additional","affiliation":[{"name":"CNR Unit, Institute of Biophysics , Trento 38123 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moritz","family":"Niesert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Heidelberg University , Heidelberg 69120 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4119-7519","authenticated-orcid":false,"given":"Afshin","family":"Saffari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Heidelberg University , Heidelberg 69120 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Kuhn","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH\u2014Non-Profit Biomedical Research Institute , Hannover 30625 ,","place":["Germany"]},{"name":"Department of Conservative Dentistry, Periodontology and Preventive Dentistry, Hannover Medical School , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Glynn","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH\u2014Non-Profit Biomedical Research Institute , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Cieri","sequence":"additional","affiliation":[{"name":"CNR, Institute of Biosciences and Bioresources (IBBR) , Naples 80131 ,","place":["Italy"]},{"name":"Department of Biology, University of Naples Federico II , Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4094-9996","authenticated-orcid":false,"given":"Pamela","family":"Santonicola","sequence":"additional","affiliation":[{"name":"CNR, Institute of Biosciences and Bioresources (IBBR) , Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Cannet","sequence":"additional","affiliation":[{"name":"Bruker Biospin GmbH , Ettlingen 76275 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Gerstner","sequence":"additional","affiliation":[{"name":"Carl-Ludwig-Institute for Physiology, Leipzig University , Leipzig 04103 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiterie M E","family":"Faller","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh , Edinburgh EH8 9AG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ting","family":"Huang","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh , Edinburgh EH8 9AG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-7310","authenticated-orcid":false,"given":"Rashmi","family":"Kothary","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Ottawa Hospital Research Institute, University of Ottawa , Ottawa, Ontario, K1H 8L6 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0306-5577","authenticated-orcid":false,"given":"Thomas H","family":"Gillingwater","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh , Edinburgh EH8 9AG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8179-6666","authenticated-orcid":false,"given":"Elia","family":"Di Schiavi","sequence":"additional","affiliation":[{"name":"CNR, Institute of Biosciences and Bioresources (IBBR) , Naples 80131 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian M","family":"Simon","sequence":"additional","affiliation":[{"name":"Carl-Ludwig-Institute for Physiology, Leipzig University , Leipzig 04103 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niko","family":"Hensel","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, Faculty of Medicine, Martin Luther University Halle-Wittenberg , Halle (Saale) 06108 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Heidelberg University , Heidelberg 69120 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6755-285X","authenticated-orcid":false,"given":"Gabriella","family":"Viero","sequence":"additional","affiliation":[{"name":"CNR Unit, Institute of Biophysics , Trento 38123 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Pich","sequence":"additional","affiliation":[{"name":"Research Core Unit Proteomics, Hannover Medical School (MHH) , Hannover 30625 ,","place":["Germany"]},{"name":"Institute of Toxicology, Hannover Medical School (MHH) , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3824-9445","authenticated-orcid":false,"given":"Peter","family":"Claus","sequence":"additional","affiliation":[{"name":"SMATHERIA gGmbH\u2014Non-Profit Biomedical Research Institute , Hannover 30625 ,","place":["Germany"]},{"name":"Center for Systems Neuroscience (ZSN) , Hannover 30559 ,","place":["Germany"]},{"name":"Institute of Functional and Applied Anatomy, Hannover Medical School , Hannover 30625 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,8,26]]},"reference":[{"key":"2025020305054589100_awae272-B1","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":"2025020305054589100_awae272-B2","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 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Res"},{"key":"2025020305054589100_awae272-B6","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/excr.2000.4858","article-title":"The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells","volume":"256","author":"Young","year":"2000","journal-title":"Exp Cell Res"},{"key":"2025020305054589100_awae272-B7","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/S0962-8924(02)02371-1","article-title":"SMN-mediated assembly of RNPs: A complex story","volume":"12","author":"Meister","year":"2002","journal-title":"Trends Cell Biol"},{"key":"2025020305054589100_awae272-B8","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1038\/sj.embor.7400941","article-title":"Chaperoning ribonucleoprotein biogenesis in health and disease","volume":"8","author":"Pellizzoni","year":"2007","journal-title":"EMBO 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disorders","volume":"9","author":"Hensel","year":"2015","journal-title":"Front Neurosci"},{"key":"2025020305054589100_awae272-B12","doi-asserted-by":"crossref","first-page":"4865","DOI":"10.1093\/hmg\/ddr425","article-title":"The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin","volume":"20","author":"N\u00f6lle","year":"2011","journal-title":"Hum Mol Genet"},{"key":"2025020305054589100_awae272-B13","doi-asserted-by":"crossref","first-page":"3877","DOI":"10.1007\/s00018-018-2849-1","article-title":"The role of survival motor neuron protein (SMN) in protein homeostasis","volume":"75","author":"Chaytow","year":"2018","journal-title":"Cell Mol Life Sci."},{"key":"2025020305054589100_awae272-B14","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 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study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy","volume":"86","author":"Chiriboga","year":"2016","journal-title":"Neurology"},{"key":"2025020305054589100_awae272-B21","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1093\/hmg\/ddaa146","article-title":"Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy","volume":"29","author":"Motyl","year":"2020","journal-title":"Hum Mol Genet"},{"key":"2025020305054589100_awae272-B22","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3389\/fneur.2020.00045","article-title":"The need for SMN-independent treatments of spinal muscular atrophy (SMA) to complement SMN-enhancing drugs","volume":"11","author":"Hensel","year":"2020","journal-title":"Front Neurol"},{"key":"2025020305054589100_awae272-B23","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: Going beyond the motor 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a key driver of Schwann cell defects in spinal muscular atrophy","volume":"13","author":"Aghamaleky Sarvestany","year":"2014","journal-title":"J Proteome Res"},{"key":"2025020305054589100_awae272-B33","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/gm498","article-title":"Label-free proteomics identifies Calreticulin and GRP75\/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy","volume":"5","author":"Mutsaers","year":"2013","journal-title":"Genome Med"},{"key":"2025020305054589100_awae272-B34","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":"2025020305054589100_awae272-B35","doi-asserted-by":"crossref","first-page":"10287","DOI":"10.1038\/s41598-021-89397-9","article-title":"Profilin2 regulates actin rod assembly in neuronal cells","volume":"11","author":"Walter","year":"2021","journal-title":"Sci Rep"},{"key":"2025020305054589100_awae272-B36","doi-asserted-by":"crossref","first-page":"1766","DOI":"10.1093\/hmg\/ddq058","article-title":"Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy","volume":"19","author":"Wen","year":"2010","journal-title":"Hum Mol Genet"},{"key":"2025020305054589100_awae272-B37","article-title":"Posttranslational modifications of the spinal muscular atrophy gene product SMN: Implications for therapy and pathophysiology. Thesis. University of Veterinary Medicine Hannover","author":"Detering","year":"2021"},{"key":"2025020305054589100_awae272-B38","doi-asserted-by":"crossref","first-page":"e202201429","DOI":"10.26508\/lsa.202201429","article-title":"SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members","volume":"6","author":"Binda","year":"2023","journal-title":"Life Sci Alliance"},{"issue":"S4","key":"2025020305054589100_awae272-B39","doi-asserted-by":"crossref","first-page":"S11","DOI":"10.1186\/1752-0509-8-S4-S11","article-title":"cytoHubba: Identifying hub objects and sub-networks from complex interactome","volume":"8","author":"Chin","year":"2014","journal-title":"BMC Syst Biol"},{"key":"2025020305054589100_awae272-B40","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1093\/hmg\/ddw044","article-title":"Tissue-specific models of spinal muscular atrophy confirm a critical role of SMN in motor neurons from embryonic to adult 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