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4. Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism. Li Q; Lei F; Tang Y; Pan JS; Tong Q; Sun Y; Sheikh-Hamad D Cell Mol Life Sci; 2018 Nov; 75(21):4021-4040. PubMed ID: 29916093 [TBL] [Abstract][Full Text] [Related]
5. Megalin-deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice. Storm T; Heegaard S; Christensen EI; Nielsen R Cell Tissue Res; 2014 Oct; 358(1):99-107. PubMed ID: 24980834 [TBL] [Abstract][Full Text] [Related]
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8. Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature. Khalifa O; Al-Sahlawi Z; Imtiaz F; Ramzan K; Allam R; Al-Mostafa A; Abdel-Fattah M; Abuharb G; Nester M; Verloes A; Al-Zaidan H Eur J Med Genet; 2015 May; 58(5):293-9. PubMed ID: 25682901 [TBL] [Abstract][Full Text] [Related]
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10. The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. Khan AO; Ghazi NG Ophthalmic Genet; 2018 Jun; 39(3):321-324. PubMed ID: 29388841 [TBL] [Abstract][Full Text] [Related]
11. Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule. Terryn S; Tanaka K; Lengelé JP; Olinger E; Dubois-Laforgue D; Garbay S; Kozyraki R; Van Der Smissen P; Christensen EI; Courtoy PJ; Bellanné-Chantelot C; Timsit J; Pontoglio M; Devuyst O Kidney Int; 2016 May; 89(5):1075-1089. PubMed ID: 27083284 [TBL] [Abstract][Full Text] [Related]
12. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Christensen EI; Devuyst O; Dom G; Nielsen R; Van der Smissen P; Verroust P; Leruth M; Guggino WB; Courtoy PJ Proc Natl Acad Sci U S A; 2003 Jul; 100(14):8472-7. PubMed ID: 12815097 [TBL] [Abstract][Full Text] [Related]
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14. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Schrauwen I; Sommen M; Claes C; Pinner J; Flaherty M; Collins F; Van Camp G Clin Genet; 2014 Sep; 86(3):282-6. PubMed ID: 23992033 [TBL] [Abstract][Full Text] [Related]
15. A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity. Ozdemir H; Plamondon J; Gaskin P; Asoglu MR; Turan S Am J Med Genet A; 2020 Feb; 182(2):289-292. PubMed ID: 31821692 [TBL] [Abstract][Full Text] [Related]
16. Retinoids modulate expression of the endocytic partners megalin, cubilin, and disabled-2 and uptake of vitamin D-binding protein in human mammary cells. Chlon TM; Taffany DA; Welsh J; Rowling MJ J Nutr; 2008 Jul; 138(7):1323-8. PubMed ID: 18567755 [TBL] [Abstract][Full Text] [Related]
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18. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Flemming J; Marczenke M; Rudolph IM; Nielsen R; Storm T; Erik IC; Diecke S; Emma F; Willnow TE Kidney Int; 2020 Jul; 98(1):159-167. PubMed ID: 32471643 [TBL] [Abstract][Full Text] [Related]
19. Cryo-EM structures elucidate the multiligand receptor nature of megalin. Goto S; Tsutsumi A; Lee Y; Hosojima M; Kabasawa H; Komochi K; Nagatoishi S; Takemoto K; Tsumoto K; Nishizawa T; Kikkawa M; Saito A Proc Natl Acad Sci U S A; 2024 May; 121(22):e2318859121. PubMed ID: 38771880 [TBL] [Abstract][Full Text] [Related]
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