{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:04:35Z","timestamp":1791212675718,"version":"4.1.0"},"reference-count":79,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T00:00:00Z","timestamp":1621987200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health","award":["2015-2020"],"award-info":[{"award-number":["2015-2020"]}]},{"name":"FRRB TRANS-ALS","award":["2015-0023"],"award-info":[{"award-number":["2015-0023"]}]},{"name":"CARIPLO","award":["2017-1886"],"award-info":[{"award-number":["2017-1886"]}]},{"DOI":"10.13039\/501100002426","name":"FONDAZIONE TELETHON","doi-asserted-by":"publisher","award":["GGP14039 AND GGP19128"],"award-info":[{"award-number":["GGP14039 AND GGP19128"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FONDAZIONE ARISLA","award":["ALS-HSPB8, ALS-GRANULOPATHY, MLOPATHY, TARGET-RAN"],"award-info":[{"award-number":["ALS-HSPB8, ALS-GRANULOPATHY, MLOPATHY, TARGET-RAN"]}]},{"name":"PRIN-PROGETTI DI RICERCA DI INTARESSE NAZIONALE","award":["2015LFPNMN, 2017 F2A2C5"],"award-info":[{"award-number":["2015LFPNMN, 2017 F2A2C5"]}]},{"name":"ITALIAN MINISTRY OF UNIVERSITY AND RESEARCH","award":["PROGETTO DIPARTIMENTI DI ECCELLENZA"],"award-info":[{"award-number":["PROGETTO DIPARTIMENTI DI ECCELLENZA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Motor neuron diseases (MNDs) are neurodegenerative disorders characterized by upper and\/or lower MN loss. MNDs include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and spinal and bulbar muscular atrophy (SBMA). Despite variability in onset, progression, and genetics, they share a common skeletal muscle involvement, suggesting that it could be a primary site for MND pathogenesis. Due to the key role of muscle-specific microRNAs (myomiRs) in skeletal muscle development, by real-time PCR we investigated the expression of miR-206, miR-133a, miR-133b, and miR-1, and their target genes, in G93A-SOD1 ALS, \u03947SMA, and KI-SBMA mouse muscle during disease progression. Further, we analyzed their expression in serum of SOD1-mutated ALS, SMA, and SBMA patients, to demonstrate myomiR role as noninvasive biomarkers. Our data showed a dysregulation of myomiRs and their targets, in ALS, SMA, and SBMA mice, revealing a common pathogenic feature associated with muscle impairment. A similar myomiR signature was observed in patients\u2019 sera. In particular, an up-regulation of miR-206 was identified in both mouse muscle and serum of human patients. Our overall findings highlight the role of myomiRs as promising biomarkers in ALS, SMA, and SBMA. Further investigations are needed to explore the potential of myomiRs as therapeutic targets for MND treatment.<\/jats:p>","DOI":"10.3390\/ijms22115673","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T21:56:44Z","timestamp":1622066204000},"page":"5673","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9208-021X","authenticated-orcid":false,"given":"Claudia","family":"Malacarne","sequence":"first","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"},{"name":"PhD Program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3250-5591","authenticated-orcid":false,"given":"Mariarita","family":"Galbiati","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro di Eccellenza sulle Malattie Neurodegenerative, Universit\u00e0 degli Studi di Milano, Via Balzaretti, 9, 20133 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Giagnorio","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"},{"name":"PhD Program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, 20900 Monza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Cavalcante","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0811-4443","authenticated-orcid":false,"given":"Franco","family":"Salerno","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Andreetta","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6863-6687","authenticated-orcid":false,"given":"Cinza","family":"Cagnoli","sequence":"additional","affiliation":[{"name":"Molecular Neuroanatomy and Pathogenesis Unit, Neurology VII\u2014Clinical and Experimental Epileptology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Taiana","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5447-0882","authenticated-orcid":false,"given":"Monica","family":"Nizzardo","sequence":"additional","affiliation":[{"name":"Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[{"name":"Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122 Milan, Italy"},{"name":"Neurology Unit, IRCCS Foundation Ca\u2019 Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9798-2669","authenticated-orcid":false,"given":"Viviana","family":"Pensato","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, 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and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Dalla Bella","sequence":"additional","affiliation":[{"name":"Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Lauria","sequence":"additional","affiliation":[{"name":"Neuroalgology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"},{"name":"Department of Biomedical and Clinical Sciences \u201cLuigi Sacco\u201d, University of Milan, Via G.B. Grassi 74, 20157 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9810-5737","authenticated-orcid":false,"given":"Renato","family":"Mantegazza","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0869-2104","authenticated-orcid":false,"given":"Pia","family":"Bernasconi","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8883-0468","authenticated-orcid":false,"given":"Angelo","family":"Poletti","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro di Eccellenza sulle Malattie Neurodegenerative, Universit\u00e0 degli Studi di Milano, Via Balzaretti, 9, 20133 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8823-6821","authenticated-orcid":false,"given":"Silvia","family":"Bonanno","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Marcuzzo","sequence":"additional","affiliation":[{"name":"Neurology IV\u2013Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/nrneurol.2014.166","article-title":"Motor neuron disease: Common genetic variants and the heritability of ALS","volume":"10","author":"Visscher","year":"2014","journal-title":"Nat. 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