{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:44:28Z","timestamp":1790959468957,"version":"4.1.0"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1093\/ndt\/gfs462","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T08:44:31Z","timestamp":1349858671000},"page":"585-591","source":"Crossref","is-referenced-by-count":80,"title":["Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration*"],"prefix":"10.1093","volume":"28","author":[{"given":"Tina","family":"Storm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carina","family":"Frykholm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Birn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre J.","family":"Verroust","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tryggve","family":"Nev\u00e9us","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitta","family":"Sundelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens Michael","family":"Hertz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd","family":"Holmstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Ericson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik I.","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikke","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,10,9]]},"reference":[{"key":"key\n\t\t\t\t20170518090002_GFS462C1","doi-asserted-by":"crossref","first-page":"9725","DOI":"10.1073\/pnas.91.21.9725","article-title":"Complete cloning and sequencing of rat gp330\/\"megalin,\" a distinctive member of the low density lipoprotein receptor gene family","volume":"91","author":"Saito","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170518090002_GFS462C2","article-title":"Donnai-Barrow syndrome","volume-title":"GeneReviews [Internet]","author":"Kantarci","year":"1993"},{"key":"key\n\t\t\t\t20170518090002_GFS462C3","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1038\/ng2063","article-title":"Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and Facio-Oculo-Acoustico-Renal syndromes","volume":"39","author":"Kantarci","year":"2007","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170518090002_GFS462C4","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/bdra.20534","article-title":"A review of Donnai-Barrow and Facio-Oculo-Acoustico-Renal (DB\/FOAR) syndrome: clinical features and differential diagnosis","volume":"85","author":"Pober","year":"2009","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C5","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s00424-009-0685-8","article-title":"Receptor-mediated endocytosis in renal proximal tubule","volume":"458","author":"Christensen","year":"2009","journal-title":"Pflugers Arch"},{"key":"key\n\t\t\t\t20170518090002_GFS462C6","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/S0002-9440(10)65238-8","article-title":"Megalin knockout mice as an animal model of low molecular weight proteinuria","volume":"155","author":"Leheste","year":"1999","journal-title":"Am J Pathol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C7","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1681\/ASN.2010050492","article-title":"Cubilin is essential for albumin reabsorption in the renal proximal tubule","volume":"21","author":"Amsellem","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C8","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1182\/blood-2003-08-2852","article-title":"The functional cobalamin (vitamin B-12)-intrinsic factor receptor is a novel complex of cubilin and amnionless","volume":"103","author":"Fyfe","year":"2004","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170518090002_GFS462C9","doi-asserted-by":"crossref","first-page":"4787","DOI":"10.1242\/dev.01341","article-title":"Mouse amnionless, which is required for primitive streak assembly, mediates cell-surface localization and endocytic function of cubilin on visceral endoderm and kidney proximal tubules","volume":"131","author":"Strope","year":"2004","journal-title":"Development"},{"key":"key\n\t\t\t\t20170518090002_GFS462C10","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1182\/blood-2005-03-1197","article-title":"Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo","volume":"106","author":"He","year":"2005","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170518090002_GFS462C11","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1056\/NEJMc1009804","article-title":"A patient with cubilin deficiency","volume":"364","author":"Storm","year":"2011","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t20170518090002_GFS462C12","doi-asserted-by":"crossref","first-page":"2458","DOI":"10.1093\/ndt\/gfq044","article-title":"The effect of progressive glomerular disease on megalin-mediated endocytosis in the kidney","volume":"25","author":"Vinge","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"key\n\t\t\t\t20170518090002_GFS462C13","first-page":"120","article-title":"Immunofunctional properties of a yolk sac epithelial cell line expressing two proteins gp280 and gp330 of the intermicrovillar area of proximal tubule cells: inhibition of endocytosis by the specific antibodies","volume":"67","author":"Le Panse","year":"1995","journal-title":"Eur J Cell Biol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C14","doi-asserted-by":"crossref","first-page":"e25065","DOI":"10.1371\/journal.pone.0025065","article-title":"Receptor-mediated endocytosis of alpha-galactosidase A in human podocytes in Fabry disease","volume":"6","author":"Prabakaran","year":"2011","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170518090002_GFS462C15","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1681\/ASN.V10102224","article-title":"Essential role of megalin in renal proximal tubule for vitamin homeostasis","volume":"10","author":"Christensen","year":"1999","journal-title":"J Am Soc Nephrol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C16","doi-asserted-by":"crossref","first-page":"3446","DOI":"10.1093\/ndt\/gfr525","article-title":"Mouse model of proximal tubule endocytic dysfunction","volume":"26","author":"Weyer","year":"2011","journal-title":"Nephrol Dial Transplant"},{"key":"key\n\t\t\t\t20170518090002_GFS462C17","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/S0092-8674(00)80655-8","article-title":"An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3","volume":"96","author":"Nykjaer","year":"1999","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170518090002_GFS462C18","doi-asserted-by":"crossref","first-page":"13895","DOI":"10.1073\/pnas.241516998","article-title":"Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D3","volume":"98","author":"Nykjaer","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20170518090002_GFS462C19","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1172-1-17","article-title":"Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)","volume":"1","author":"Grasbeck","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t20170518090002_GFS462C20","first-page":"F601","article-title":"Intrarenal handling of proteins in rats using fractional micropuncture technique","volume":"263","author":"Tojo","year":"1992","journal-title":"Am J Physiol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C21","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1038\/sj.ki.5002041","article-title":"The normal kidney filters nephrotic levels of albumin retrieved by proximal tubule cells: retrieval is disrupted in nephrotic states","volume":"71","author":"Russo","year":"2007","journal-title":"Kidney Int"},{"key":"key\n\t\t\t\t20170518090002_GFS462C22","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1681\/ASN.2008050503","article-title":"Impaired tubular uptake explains albuminuria in early diabetic nephropathy","volume":"20","author":"Russo","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"key\n\t\t\t\t20170518090002_GFS462C23","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1681\/ASN.2007090997","article-title":"Resolved: normal glomeruli filter nephrotic levels of albumin","volume":"19","author":"Comper","year":"2008","journal-title":"J Am Soc Nephrol"}],"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ndt\/article-pdf\/28\/3\/585\/17171493\/gfs462.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,30]],"date-time":"2022-01-30T04:09:32Z","timestamp":1643515772000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/article-lookup\/doi\/10.1093\/ndt\/gfs462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,9]]},"references-count":23,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,10,9]]},"published-print":{"date-parts":[[2013,3]]}},"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfs462","relation":{},"ISSN":["1460-2385","0931-0509"],"issn-type":[{"value":"1460-2385","type":"electronic"},{"value":"0931-0509","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10,9]]}}}