{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:49:35Z","timestamp":1786978175348,"version":"build-2736575974"},"reference-count":55,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,6]],"date-time":"2025-07-06T00:00:00Z","timestamp":1751760000000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Bone manifestations are one of the most prevalent complications in patients with Gaucher disease (GD). Bone involvement is evaluated by using imaging methods, and there are different scores to assess its severity. However, there are no biomarkers that allow us to predict these manifestations. In recent years, several miRNAs have been associated with bone involvement and postulated as excellent bioavailable biomarkers. This study aims to identify a miRNA expression profile from plasma exosomes and to associate it with the severity of bone involvement in patients with GD. This study included 60 untreated patients with GD with bone involvement, who were classified according to the S\u2010MRI score into three groups: mild disease (MiBD; S\u2010MRI\u2009&lt;\u20095), moderate disease (MoBD; S\u2010MRI: 5\u201311), or severe disease (SBD; S\u2010MRI\u2009&gt;\u200911). Plasma exosomes were purified, and miRNAs were extracted and identified by next\u2010generation sequencing (NGS) technology. Differentially expressed miRNAs were validated by droplet digital PCR (ddPCR). In the patients' groups classified by S\u2010MRI, the median ages (Q1\u2013Q3) were: MiBD 19.0 (4.00\u201340.00), MoBD 40.5 (28.25\u201356.00), and SBD 37.5 (31.25\u201347.00) years. When comparing groups, we found 12 differentially expressed exosomal miRNAs. After validation, four miRNAs were identified as differentially expressed: hsa\u2010miR\u2010127\u20103p, hsa\u2010miR\u2010184, hsa\u2010miR\u2010197\u20103p, and hsa\u2010miR\u2010660\u20105p. Notably, hsa\u2010miR\u2010127\u20103p, hsa\u2010miR\u2010660\u20105p, and hsa\u2010miR\u2010184 were correlated with the presence of infarcts, necrosis, and the degree of infiltration into the spine, pelvis, and femur. These three miRNAs could serve as bioavailable biomarkers to assess bone disease in GD, and further revalidation with a higher number of patients.<\/jats:p>","DOI":"10.1002\/jimd.70061","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T01:37:59Z","timestamp":1751852279000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expression Profiles of Exosomal\n                    <scp>miRNAs<\/scp>\n                    in Gaucher Patients and Their Association With Severity of Bone Involvement"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7507-9249","authenticated-orcid":false,"given":"Irene","family":"Serrano\u2010Gonzalo","sequence":"first","affiliation":[{"name":"Fundaci\u00f3n Espa\u00f1ola Para el Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG)  Zaragoza Spain"},{"name":"Department of Biochemistry and Molecular 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Enfermedad Cr\u00f3nica e Investigaci\u00f3n Traslacional (MECIT)  Zaragoza Spain"},{"name":"Servicio de Hematolog\u00eda Hospital Quir\u00f3nSalud  Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,6]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(08)61522\u20106"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23611"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.18.2835"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.160.6.603"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3734"},{"key":"e_1_2_12_8_1","first-page":"101","volume-title":"La Afectaci\u00f3n \u00d3sea en la Enfermedad de Gaucher","author":"Gerv\u00e1s\u2010Arruga 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