{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T07:42:54Z","timestamp":1792827774796,"version":"4.5.0"},"reference-count":74,"publisher":"American Society of Hematology","issue":"23","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,12,14]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hemostatic abnormalities and impaired platelet function have been described in patients affected by connective tissue disorders. We observed a moderate bleeding tendency in patients affected by collagen VI\u2013related disorders and investigated the defects in platelet functionality, whose mechanisms are unknown. We demonstrated that megakaryocytes express collagen VI that is involved in the regulation of functional platelet production. By exploiting a collagen VI\u2013null mouse model (Col6a1\u2212\/\u2212), we found that collagen VI\u2013null platelets display significantly increased susceptibility to activation and intracellular calcium signaling. Col6a1\u2212\/\u2212 megakaryocytes and platelets showed increased expression of stromal interaction molecule 1 (STIM1) and ORAI1, the components of store-operated calcium entry (SOCE), and activation of the mammalian target of rapamycin (mTOR) signaling pathway. In vivo mTOR inhibition by rapamycin reduced STIM1 and ORAI1 expression and calcium flows, resulting in a normalization of platelet susceptibility to activation. These defects were cell autonomous, because transplantation of lineage-negative bone marrow cells from Col6a1\u2212\/\u2212 mice into lethally irradiated wild-type animals showed the same alteration in SOCE and platelet activation seen in Col6a1\u2212\/\u2212 mice. Peripheral blood platelets of patients affected by collagen VI\u2013related diseases, Bethlem myopathy and Ullrich congenital muscular dystrophy, displayed increased expression of STIM1 and ORAI1 and were more prone to activation. Altogether, these data demonstrate the importance of collagen VI in the production of functional platelets by megakaryocytes in mouse models and in collagen VI\u2013related diseases.<\/jats:p>","DOI":"10.1182\/bloodadvances.2020002671","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T23:59:19Z","timestamp":1632268759000},"page":"5150-5163","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":11,"title":["Ablation of collagen VI leads to the release of platelets with altered function"],"prefix":"10.1182","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8066-9895","authenticated-orcid":false,"given":"Vittorio","family":"Abbonante","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, Pavia, Italy;"},{"name":"Laboratory of Biochemistry-Biotechnology and Advanced Diagnostics, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico 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