Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.

doi:10.1093/ndt/gfs462

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Article

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2013

Storm Tina, Tranebjærg Lisbeth, Frykholm Carina, Birn Henrik, Verroust Pierre J, Nevéus Tryggve, Sundelin Birgitta, Hertz Jens Michael, Holmström Gerd, Ericson Katharina, Christensen Erik I, Nielsen Rikke

Abstract excerpt

BACKGROUND: The reabsorption of filtered plasma proteins, hormones and vitamins by the renal proximal tubules is vital for body homeostasis. Studies of megalin-deficient mice suggest that the large multi-ligand endocytic receptor megalin plays an essential role in this process. In humans, dysfunctional megalin causes the extremely rare Donnai-Barrow/Facio-Oculo-Acustico-Renal (DB/FOAR) syndrome characterized by a...

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PMID: 23048173
DOI: 10.1093/ndt/gfs462

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LRP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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