Article
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.
American journal of physiology. Renal physiology - 1 Dec 2020
Charlton Jennifer R, Tan Weizhen, Daouk Ghaleb, Teot Lisa, Rosen Seymour, Bennett Kevin M, Cwiek Aleksandra, Nam Sejin, Emma Francesco, Jouret François, Oliveira João Paulo, Tranebjærg Lisbeth, Frykholm Carina, Mane Shrikant, Hildebrandt Friedhelm, Srivastava Tarak, Storm Tina, Christensen Erik Ilsø, Nielsen Rikke
Abstract excerpt
Pathogenic variants in the LRP2 gene, encoding the multiligand receptor megalin, cause a rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal (DB/FOAR) syndrome. Because of the rarity of the syndrome, the long-term consequences of the tubulopathy on human renal health have been difficult to ascertain, and the human clinical condition has hitherto been characterized as a benign tubular...
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