{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T07:05:54Z","timestamp":1781766354801,"version":"3.54.5"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T00:00:00Z","timestamp":1736467200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T00:00:00Z","timestamp":1736467200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Gene Ther"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1038\/s41434-025-00513-0","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T09:53:57Z","timestamp":1736502837000},"page":"211-217","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy"],"prefix":"10.1038","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4046-4195","authenticated-orcid":false,"given":"Devesh C.","family":"Pant","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1992-4556","authenticated-orcid":false,"given":"Sumit","family":"Verma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,10]]},"reference":[{"key":"513_CR1","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155\u201365.","journal-title":"Cell"},{"key":"513_CR2","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mus.24497","volume":"51","author":"WD Arnold","year":"2015","unstructured":"Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157\u201367.","journal-title":"Muscle Nerve"},{"key":"513_CR3","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000200310","volume":"14","author":"M Schroth","year":"2024","unstructured":"Schroth M, Deans J, Arya K, Castro D, De Vivo DC, Gibbons MA, et al. Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations. Neurol Clin Pr. 2024;14:e200310.","journal-title":"Neurol Clin Pr"},{"key":"513_CR4","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1056\/NEJMoa2102047","volume":"385","author":"BT Darras","year":"2021","unstructured":"Darras BT, Masson R, Mazurkiewicz-Beldzinska M, Rose K, Xiong H, Zanoteli E, et al. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls. N Engl J Med. 2021;385:427\u201335.","journal-title":"N Engl J Med"},{"key":"513_CR5","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377:1723\u201332.","journal-title":"N Engl J Med"},{"key":"513_CR6","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","volume":"377","author":"JR Mendell","year":"2017","unstructured":"Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017;377:1713\u201322.","journal-title":"N Engl J Med"},{"key":"513_CR7","doi-asserted-by":"publisher","DOI":"10.1177\/11772719211035643","volume":"16","author":"MG Pino","year":"2021","unstructured":"Pino MG, Rich KA, Kolb SJ. Update on Biomarkers in Spinal Muscular Atrophy. Biomark Insights. 2021;16:11772719211035643.","journal-title":"Biomark Insights"},{"key":"513_CR8","doi-asserted-by":"publisher","first-page":"1252","DOI":"10.1515\/cclm-2023-1311","volume":"62","author":"S Bayoumy","year":"2024","unstructured":"Bayoumy S, Verberk IMW, Vermunt L, Willemse E, den Dulk B, van der Ploeg AT, et al. Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges. Clin Chem Lab Med. 2024;62:1252\u201365.","journal-title":"Clin Chem Lab Med"},{"key":"513_CR9","doi-asserted-by":"publisher","first-page":"937","DOI":"10.3233\/JND-230054","volume":"10","author":"J Glascock","year":"2023","unstructured":"Glascock J, Darras BT, Crawford TO, Sumner CJ, Kolb SJ, DiDonato C, et al. Identifying Biomarkers of Spinal Muscular Atrophy for Further Development. J Neuromuscul Dis. 2023;10:937\u201354.","journal-title":"J Neuromuscul Dis"},{"key":"513_CR10","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","volume":"33","author":"SJ Kolb","year":"2015","unstructured":"Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33:831\u201346.","journal-title":"Neurol Clin"},{"key":"513_CR11","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1007\/s13311-014-0314-x","volume":"12","author":"MA Farrar","year":"2015","unstructured":"Farrar MA, Kiernan MC. The Genetics of Spinal Muscular Atrophy: Progress and Challenges. Neurotherapeutics. 2015;12:290\u2013302.","journal-title":"Neurotherapeutics"},{"key":"513_CR12","doi-asserted-by":"publisher","first-page":"5060","DOI":"10.3390\/jcm12155060","volume":"12","author":"M Babic","year":"2023","unstructured":"Babic M, Banovic M, Berecic I, Banic T, Babic Leko M, Ulamec M, et al. Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy. J Clin Med. 2023;12:5060.","journal-title":"J Clin Med"},{"key":"513_CR13","doi-asserted-by":"publisher","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","volume":"28","author":"KA Strauss","year":"2022","unstructured":"Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, et al. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022;28:1390\u20137.","journal-title":"Nat Med"},{"key":"513_CR14","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1016\/j.jhep.2020.11.001","volume":"74","author":"D Chand","year":"2021","unstructured":"Chand D, Mohr F, McMillan H, Tukov FF, Montgomery K, Kleyn A, et al. Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy. J Hepatol. 2021;74:560\u20136.","journal-title":"J Hepatol"},{"key":"513_CR15","doi-asserted-by":"publisher","first-page":"4266","DOI":"10.1182\/bloodadvances.2021006419","volume":"6","author":"J Guillou","year":"2022","unstructured":"Guillou J, de Pellegars A, Porcheret F, Fremeaux-Bacchi V, Allain-Launay E, Debord C, et al. Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy. Blood Adv. 2022;6:4266\u201370.","journal-title":"Blood Adv"},{"key":"513_CR16","doi-asserted-by":"publisher","first-page":"1478","DOI":"10.1111\/jcpt.13733","volume":"47","author":"F Galletta","year":"2022","unstructured":"Galletta F, Cucinotta U, Marseglia L, Cacciola A, Gallizzi R, Cuzzocrea S, et al. Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy. J Clin Pharm Ther. 2022;47:1478\u201381.","journal-title":"J Clin Pharm Ther"},{"key":"513_CR17","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1038\/s44321-024-00037-x","volume":"16","author":"Q Xie","year":"2024","unstructured":"Xie Q, Chen X, Ma H, Zhu Y, Ma Y, Jalinous L, et al. Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor. EMBO Mol Med. 2024;16:945\u201365.","journal-title":"EMBO Mol Med"},{"key":"513_CR18","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1007\/s13311-022-01305-9","volume":"20","author":"S Verma","year":"2023","unstructured":"Verma S, Perry K, Razdan R, Howell JC, Dawson AL, Hu WT. CSF IL-8 Associated with Response to Gene Therapy in a Case Series of Spinal Muscular Atrophy. Neurotherapeutics. 2023;20:245\u201353.","journal-title":"Neurotherapeutics"},{"key":"513_CR19","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-023-42834-x","volume":"14","author":"W Feng","year":"2023","unstructured":"Feng W, Beer JC, Hao Q, Ariyapala IS, Sahajan A, Komarov A, et al. NULISA: a proteomic liquid biopsy platform with attomolar sensitivity and high multiplexing. Nat Commun. 2023;14:7238.","journal-title":"Nat Commun"},{"key":"513_CR20","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2022.982760","volume":"16","author":"S Bonanno","year":"2022","unstructured":"Bonanno S, Cavalcante P, Salvi E, Giagnorio E, Malacarne C, Cattaneo M, et al. Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment. Front Cell Neurosci. 2022;16:982760.","journal-title":"Front Cell Neurosci"},{"key":"513_CR21","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.202000301","volume":"21","author":"J Roberto","year":"2021","unstructured":"Roberto J, Poulin KL, Parks RJ, Vacratsis PO. Label-free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy. Proteomics. 2021;21:e2000301.","journal-title":"Proteomics"},{"key":"513_CR22","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1002\/acn3.283","volume":"3","author":"SJ Kolb","year":"2016","unstructured":"Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, et al. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016;3:132\u201345.","journal-title":"Ann Clin Transl Neurol"},{"key":"513_CR23","doi-asserted-by":"publisher","first-page":"e60113","DOI":"10.1371\/journal.pone.0060113","volume":"8","author":"DT Kobayashi","year":"2013","unstructured":"Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, et al. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013;8:e60113.","journal-title":"PLoS One"},{"key":"513_CR24","doi-asserted-by":"publisher","first-page":"e35462","DOI":"10.1371\/journal.pone.0035462","volume":"7","author":"RS Finkel","year":"2012","unstructured":"Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, et al. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One. 2012;7:e35462.","journal-title":"PLoS One"},{"key":"513_CR25","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1111\/j.1600-0404.1989.tb03864.x","volume":"80","author":"I Niebroj-Dobosz","year":"1989","unstructured":"Niebroj-Dobosz I, Hausmanowa-Petrusewicz I. Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy. Acta Neurol Scand. 1989;80:208\u201314.","journal-title":"Acta Neurol Scand"},{"key":"513_CR26","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/path.4080","volume":"229","author":"R Martinez-Hernandez","year":"2013","unstructured":"Martinez-Hernandez R, Bernal S, Also-Rallo E, Alias L, Barcelo MJ, Hereu M, et al. Synaptic defects in type I spinal muscular atrophy in human development. J Pathol. 2013;229:49\u201361.","journal-title":"J Pathol"},{"key":"513_CR27","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1097\/NEN.0000000000000144","volume":"74","author":"BN Harding","year":"2015","unstructured":"Harding BN, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, et al. Spectrum of neuropathophysiology in spinal muscular atrophy type I. J Neuropathol Exp Neurol. 2015;74:15\u201324.","journal-title":"J Neuropathol Exp Neurol"},{"key":"513_CR28","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1016\/j.stemcr.2015.02.010","volume":"4","author":"M Yoshida","year":"2015","unstructured":"Yoshida M, Kitaoka S, Egawa N, Yamane M, Ikeda R, Tsukita K, et al. Modeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs. Stem Cell Rep. 2015;4:561\u20138.","journal-title":"Stem Cell Rep"},{"key":"513_CR29","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1093\/hmg\/ddm367","volume":"17","author":"LM Murray","year":"2008","unstructured":"Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:949\u201362.","journal-title":"Hum Mol Genet"},{"key":"513_CR30","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1093\/hmg\/ddr453","volume":"21","author":"KK Ling","year":"2012","unstructured":"Ling KK, Gibbs RM, Feng Z, Ko CP. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2012;21:185\u201395.","journal-title":"Hum Mol Genet"},{"key":"513_CR31","doi-asserted-by":"publisher","first-page":"2552","DOI":"10.1093\/hmg\/ddn156","volume":"17","author":"S Kariya","year":"2008","unstructured":"Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:2552\u201369.","journal-title":"Hum Mol Genet"},{"key":"513_CR32","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1016\/j.ajhg.2016.07.008","volume":"99","author":"M Auer-Grumbach","year":"2016","unstructured":"Auer-Grumbach M, Toegel S, Schabhuttl M, Weinmann D, Chiari C, Bennett DLH, et al. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016;99:607\u201323.","journal-title":"Am J Hum Genet"},{"key":"513_CR33","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000094","volume":"2","author":"C Depondt","year":"2016","unstructured":"Depondt C, Donatello S, Rai M, Wang FC, Manto M, Simonis N, et al. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet. 2016;2:e94.","journal-title":"Neurol Genet"},{"key":"513_CR34","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1002\/ana.24612","volume":"79","author":"Y Higuchi","year":"2016","unstructured":"Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, et al. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol. 2016;79:659\u201372.","journal-title":"Ann Neurol"},{"key":"513_CR35","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.ejpn.2022.12.003","volume":"42","author":"FEV Scheijmans","year":"2023","unstructured":"Scheijmans FEV, Cuppen I, Zwartkruis MM, Signoria I, van Ekris C, Asselman F, et al. Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment. Eur J Paediatr Neurol. 2023;42:34\u201341.","journal-title":"Eur J Paediatr Neurol"},{"key":"513_CR36","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1038\/s43856-023-00256-2","volume":"3","author":"T Nuzzo","year":"2023","unstructured":"Nuzzo T, Russo R, Errico F, D\u2019Amico A, Tewelde AG, Valletta M, et al. Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients. Commun Med. 2023;3:28.","journal-title":"Commun Med"}],"container-title":["Gene Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41434-025-00513-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41434-025-00513-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41434-025-00513-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T14:17:56Z","timestamp":1775571476000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41434-025-00513-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,10]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["513"],"URL":"https:\/\/doi.org\/10.1038\/s41434-025-00513-0","relation":{},"ISSN":["0969-7128","1476-5462"],"issn-type":[{"value":"0969-7128","type":"print"},{"value":"1476-5462","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,10]]},"assertion":[{"value":"5 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 December 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 January 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}