{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T06:33:49Z","timestamp":1791614029727,"version":"4.3.4"},"reference-count":144,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T00:00:00Z","timestamp":1678147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Collagen VI exerts several functions in the tissues in which it is expressed, including mechanical roles, cytoprotective functions with the inhibition of apoptosis and oxidative damage, and the promotion of tumor growth and progression by the regulation of cell differentiation and autophagic mechanisms. Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (MM), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory compromise. No effective therapeutic strategy is available so far for these diseases; moreover, the effects of collagen VI mutations on other tissues is poorly investigated. The aim of this review is to outline the role of collagen VI in the musculoskeletal system and to give an update about the tissue-specific functions revealed by studies on animal models and from patients\u2019 derived samples in order to fill the knowledge gap between scientists and the clinicians who daily manage patients affected by collagen VI-related myopathies.<\/jats:p>","DOI":"10.3390\/ijms24065095","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T02:30:23Z","timestamp":1678242623000},"page":"5095","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Collagen VI in the Musculoskeletal System"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0716-4951","authenticated-orcid":false,"given":"Alberto","family":"Di Martino","sequence":"first","affiliation":[{"name":"I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"},{"name":"Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7138-1857","authenticated-orcid":false,"given":"Matilde","family":"Cescon","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padova, 35131 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2616-0662","authenticated-orcid":false,"given":"Claudio","family":"D\u2019Agostino","sequence":"additional","affiliation":[{"name":"I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"},{"name":"Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Schilardi","sequence":"additional","affiliation":[{"name":"I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"},{"name":"Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Sabatelli","sequence":"additional","affiliation":[{"name":"Unit of Bologna, CNR-Institute of Molecular Genetics \u201cLuigi Luca Cavalli-Sforza\u201d, 40136 Bologna, Italy"},{"name":"IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1108-1198","authenticated-orcid":false,"given":"Luciano","family":"Merlini","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Faldini","sequence":"additional","affiliation":[{"name":"I Orthopedic and Traumatology Department, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy"},{"name":"Department of Biomedical and Neuromotor Science, DIBINEM, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,7]]},"reference":[{"key":"ref_1","first-page":"186","article-title":"The physiology of the joints","volume":"2","author":"Kapandji","year":"1977","journal-title":"Churchill Livingstone"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3955","DOI":"10.1016\/S0021-9258(17)43189-9","article-title":"Type VI collagen. 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