{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T17:02:19Z","timestamp":1787418139321,"version":"build-2736575974"},"reference-count":35,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T00:00:00Z","timestamp":1666051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sapienza University of Rome","award":["M118164367A1C54"],"award-info":[{"award-number":["M118164367A1C54"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Plasma small RNAs have been recently explored as biomarkers in Huntington\u2019s disease (HD). We performed an exploratory study on nine HD patients, eight healthy subjects (HS), and five psychiatric patients (PP; to control for iatrogenic confounder effects) through an Affymetrix-Gene-Chip-miRNA-Array. We validated the results in an independent population of 23 HD, 15 pre-HD, 24 PP, 28 Alzheimer\u2019s disease (AD) patients (to control the disease-specificity) and 22 HS through real-time PCR. The microarray results showed higher levels of U13 small nucleolar RNA (SNORD13) in HD patients than controls (fold change 1.54, p = 0.003 HD vs. HS, and 1.44, p = 0.0026 HD vs. PP). In the validation population, a significant increase emerged with respect to both pre-HD and the control groups (p &lt; 0.0001). SNORD13 correlated with the status of the mutant huntingtin carrier (r = 0.73; p &lt; 0.001) and the disease duration (r = 0.59; p = 0.003). The receiver operating characteristic (ROC) curve analysis showed the high accuracy of SNORD13 in discriminating HD patients from other groups (AUC = 0.963). An interactome and pathway analysis on SNORD13 revealed enrichments for factors relevant to HD pathogenesis. We report the unprecedented finding of a potential disease-specific role of SNORD13 in HD. It seems to peripherally report a \u2018tipping point\u2019 in the pathogenic cascade at the neuronal level.<\/jats:p>","DOI":"10.3390\/ijms232012440","type":"journal-article","created":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T21:18:02Z","timestamp":1666127882000},"page":"12440","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington\u2019s Disease: A Pilot Study"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0499-8843","authenticated-orcid":false,"given":"Silvia","family":"Romano","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Peconi","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Fiore","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnology, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2635-1699","authenticated-orcid":false,"given":"Gianmarco","family":"Bellucci","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0812-3481","authenticated-orcid":false,"given":"Emanuele","family":"Morena","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Troili","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Cipollini","sequence":"additional","affiliation":[{"name":"Department of Human Neurosciences, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Annibali","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Giglio","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5842-3100","authenticated-orcid":false,"given":"Rosella","family":"Mechelli","sequence":"additional","affiliation":[{"name":"IRCCS San Raffaele, San Raffaele Roma Open University, 00166 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Ferraldeschi","sequence":"additional","affiliation":[{"name":"Ospedale San Giovanni Battista, Associazione dei Cavalieri Italiani del Sovrano Militare Ordine di Malta (ACISMOM), 00148 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9921-8450","authenticated-orcid":false,"given":"Liana","family":"Veneziano","sequence":"additional","affiliation":[{"name":"CNR Institute of Translational Pharmacology, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1656-5543","authenticated-orcid":false,"given":"Elide","family":"Mantuano","sequence":"additional","affiliation":[{"name":"CNR Institute of Translational Pharmacology, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9767-8752","authenticated-orcid":false,"given":"Gabriele","family":"Sani","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Department of Neuroscience, Section of Psychiatry, Catholic University of the Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5497-6856","authenticated-orcid":false,"given":"Andrea","family":"Vecchione","sequence":"additional","affiliation":[{"name":"Surgical Pathology Units, Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Umeton","sequence":"additional","affiliation":[{"name":"Department of Informatics and Analytics, Dana-Farber Cancer Institute, Boston, MA 02215, USA"},{"name":"Department of Biological Engineering, Department of Mechanical Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA"},{"name":"Harvard School of Public Health, Boston, MA 02115, USA"},{"name":"Weill Cornell Medicine, New York, NY 10065, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Giubilei","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0501-8803","authenticated-orcid":false,"given":"Marco","family":"Salvetti","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"},{"name":"IRCCS Istituto Neurologico Mediterraneo (INM) Neuromed, 86077 Pozzilli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Maria","family":"Corbo","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnology, Sapienza University of Rome, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5565-6379","authenticated-orcid":false,"given":"Daniela","family":"Scarabino","sequence":"additional","affiliation":[{"name":"CNR Institute of Molecular Biology and Pathology, 00185 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Ristori","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs, Sant\u2019Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy"},{"name":"Neuroimmunology Unit, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1056\/NEJMoa1900907","article-title":"Targeting Huntingtin Expression in Patients with Huntington\u2019s 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