{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:29:38Z","timestamp":1791289778525,"version":"4.3.0"},"reference-count":59,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p>\n                    C3 glomerulopathy is a recently described form of CKD. C3GN is a subtype of C3 glomerulopathy characterized by predominant C3 deposits in the glomeruli and is commonly the result of acquired or genetic abnormalities in the alternative pathway (AP) of the complement system. We identified and characterized the first mutation of the C3 gene (p. I734T) in two related individuals diagnosed with C3GN. Immunofluorescence and electron microscopy studies showed C3 deposits in the subendothelial space, associated with unusual deposits located near the complement receptor 1 (CR1)-expressing podocytes.\n                    <jats:italic toggle=\"yes\">In vitro,<\/jats:italic>\n                    this C3 mutation exhibited decreased binding to CR1, resulting in less CR1-dependent cleavage of C3b by factor 1. Both patients had normal plasma C3 levels, and the mutant C3 interacted with factor B comparably to wild-type (WT) C3 to form a C3 convertase. Binding of mutant C3 to factor H was normal, but mutant C3 was less efficiently cleaved by factor I in the presence of factor H, leading to enhanced C3 fragment deposition on glomerular cells. In conclusion, our results reveal that a CR1 functional deficiency is a mechanism of intraglomerular AP dysregulation and could influence the localization of the glomerular C3 deposits.\n                  <\/jats:p>","DOI":"10.1681\/asn.2015040348","type":"journal-article","created":{"date-parts":[[2015,10,15]],"date-time":"2015-10-15T21:42:44Z","timestamp":1444945364000},"page":"1665-1677","source":"Crossref","is-referenced-by-count":51,"title":["A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H"],"prefix":"10.1681","volume":"27","author":[{"given":"Sophie","family":"Chauvet","sequence":"first","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche S1138, Compl\u00e9ment et Maladies, Centre de Recherche des Cordeliers, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes Sorbonne Paris-Cit\u00e9, Paris, France;"},{"name":"Universit\u00e9 Pierre et Marie Curie (UPMC-Paris-6), Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubka T.","family":"Roumenina","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche S1138, Compl\u00e9ment et Maladies, Centre de Recherche des Cordeliers, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes Sorbonne Paris-Cit\u00e9, Paris, France;"},{"name":"Universit\u00e9 Pierre et Marie Curie (UPMC-Paris-6), Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Bruneau","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche S1064, Institut de Transplantation Urologie-Nephrologie, Centre Hospitalier Universitaire de Nantes, Universit\u00e9 de Nantes, Nantes, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Chiara","family":"Marinozzi","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche S1138, Compl\u00e9ment et Maladies, Centre de Recherche des Cordeliers, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes Sorbonne Paris-Cit\u00e9, Paris, France;"},{"name":"Universit\u00e9 Pierre et Marie Curie (UPMC-Paris-6), Paris, France;"},{"name":"Assistance Publique-H\u00f4pitaux de Paris, Service d\u2019Immunologie Biologique, H\u00f4pital europ\u00e9en Georges Pompidou, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Rybkine","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche S1138, Compl\u00e9ment et Maladies, Centre de Recherche des Cordeliers, Paris, France;"},{"name":"Universit\u00e9 Paris Descartes Sorbonne Paris-Cit\u00e9, Paris, France;"},{"name":"Universit\u00e9 Pierre et Marie Curie (UPMC-Paris-6), Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth C.","family":"Schramm","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Rheumatology, Washington University School of Medicine, Saint Louis, Missouri;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuja","family":"Java","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Rheumatology, Washington University School of Medicine, Saint Louis, Missouri;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.","family":"Atkinson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Rheumatology, Washington University School of Medicine, Saint Louis, Missouri;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean 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