{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T20:06:04Z","timestamp":1783109164051,"version":"3.54.6"},"reference-count":22,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,7,30]],"date-time":"2021-07-30T00:00:00Z","timestamp":1627603200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Austrian Cardiologic Society","award":["n.A."],"award-info":[{"award-number":["n.A."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Fabry disease is a hereditary genetic defect resulting in reduced activity of the enzyme \u03b1-galactosidase-A and the accumulation of globotriaosylceramide (Gb3) in body fluids and cells. Gb3 accumulation was especially reported for the vascular endothelium in several organs. Methods: Three Fabry disease patients were screened using a micro-RNA screen. An in vitro approach in human endothelial cells was used to determine miRNA regulation by Gb3. Results: In a micro-RNA screen of three Fabry patients undergoing enzyme replacement therapy, we found that miRNAs let-7a and let-7d were significantly increased after therapy. We demonstrate in vitro in endothelial cells that Gb3 induced activation of NF-\u03baB and activated downstream targets. In addition, NF-\u03baB activity directly reduced let-7a and let-7d miRNA expression as inhibiting NF-kB nuclear entry abolished the Gb3 effects. Conclusion: We suggest that let-7a and let-7d are potential markers for enzyme activity and inflammation in Fabry disease patients.<\/jats:p>","DOI":"10.3390\/genes12081184","type":"journal-article","created":{"date-parts":[[2021,7,30]],"date-time":"2021-07-30T03:46:42Z","timestamp":1627616802000},"page":"1184","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["MiRNA Let-7a and Let-7d Are Induced by Globotriaosylceramide via NF-kB Activation in Fabry Disease"],"prefix":"10.3390","volume":"12","author":[{"given":"Nadine","family":"Maier","sequence":"first","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1029-085X","authenticated-orcid":false,"given":"Constantin","family":"Gatterer","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6874-5349","authenticated-orcid":false,"given":"Patrick","family":"Haider","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5477-3533","authenticated-orcid":false,"given":"Manuel","family":"Salzmann","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Kaun","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7267-3138","authenticated-orcid":false,"given":"Walter S.","family":"Speidl","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9253-9921","authenticated-orcid":false,"given":"Gere","family":"Sunder-Plassmann","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III\/Nephrology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4641-7202","authenticated-orcid":false,"given":"Bruno K.","family":"Podesser","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research, Medical University of Vienna, 1090 Vienna, Austria"},{"name":"Ludwig Boltzmann Institute for Cardiovascular Research, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"Wojta","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"},{"name":"Ludwig Boltzmann Institute for Cardiovascular Research, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4443-8667","authenticated-orcid":false,"given":"Senta","family":"Graf","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3539-994X","authenticated-orcid":false,"given":"Max","family":"Lenz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4819-3190","authenticated-orcid":false,"given":"Philipp J.","family":"Hohensinner","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine II\/Cardiology, Medical University of Vienna, 1090 Vienna, Austria"},{"name":"Center for Biomedical Research, Medical University of Vienna, 1090 Vienna, Austria"},{"name":"Ludwig Boltzmann Institute for Cardiovascular Research, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1038\/gim.2016.55","article-title":"Is it Fabry disease?","volume":"18","author":"Schiffmann","year":"2016","journal-title":"Genet. 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