{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:29:28Z","timestamp":1790674168446,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,8,19]],"date-time":"2020-08-19T00:00:00Z","timestamp":1597795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alport syndrome (AS) is a genetic disorder involving mutations in the genes encoding collagen IV \u03b13, \u03b14 or \u03b15 chains, resulting in the impairment of glomerular basement membrane. Podocytes are responsible for production and correct assembly of collagen IV isoforms; however, data on the phenotypic characteristics of human AS podocytes and their functional alterations are currently limited. The evident loss of viable podocytes into the urine of patients with active glomerular disease enables their isolation in a non\u2010invasive way. Here we isolated, immortalized, and subcloned podocytes from the urine of three different AS patients for molecular and functional characterization. AS podocytes expressed a typical podocyte signature and showed a collagen IV profile reflecting each patient's mutation. Furthermore, RNA\u2010sequencing analysis revealed 348 genes differentially expressed in AS podocytes compared with control podocytes. Gene Ontology analysis underlined the enrichment in genes involved in cell motility, adhesion, survival, and angiogenesis. In parallel, AS podocytes displayed reduced motility. Finally, a functional permeability assay, using a podocyte\u2013glomerular endothelial cell co\u2010culture system, was established and AS podocyte co\u2010cultures showed a significantly higher permeability of albumin compared to control podocyte co\u2010cultures, in both static and dynamic conditions under continuous perfusion. In conclusion, our data provide a molecular characterization of immortalized AS podocytes, highlighting alterations in several biological processes related to extracellular matrix remodelling. Moreover, we have established an <jats:italic>in vitro<\/jats:italic> model to reproduce the altered podocyte permeability observed in patients with AS. \u00a9 2020 The Authors. The <jats:italic>Journal of Pathology<\/jats:italic> published by John Wiley &amp; Sons Ltd on behalf of Pathological Society of Great Britain and Ireland..<\/jats:p>","DOI":"10.1002\/path.5496","type":"journal-article","created":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T17:28:42Z","timestamp":1594488522000},"page":"88-100","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Molecular and functional characterization of urine\u2010derived podocytes from patients with Alport syndrome"],"prefix":"10.1002","volume":"252","author":[{"given":"Corinne","family":"Iampietro","sequence":"first","affiliation":[{"name":"Department of Molecular Biotechnology and Health Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Bellucci","sequence":"additional","affiliation":[{"name":"Department of Molecular Biotechnology and Health Sciences University of 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