Ramzi Khalil

4 Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier 79 References 1. Deanfield JE, Halcox JP, Rabelink TJ: Endothelial function and dysfunction: testing and clinical relevance. Circulation 2007, 115(10):1285-1295. 2. Stam F, van Guldener C, Becker A, Dekker JM, Heine RJ, Bouter LM, Stehouwer CD: Endothelial dysfunction contributes to renal function-associated cardiovascular mortality in a population with mild renal insufficiency: the Hoorn study. Journal of the American Society of Nephrology : JASN 2006, 17(2):537-545. 3. Reitsma S, Slaaf DW, Vink H, van Zandvoort MA, oude Egbrink MG: The endothelial glycocalyx: composition, functions, and visualization. Pflugers Archiv : European journal of physiology 2007, 454(3):345-359. 4. Esko JD, Selleck SB: Order out of chaos: assembly of ligand binding sites in heparan sulfate. Annual review of biochemistry 2002, 71:435-471. 5. Xu D, Esko JD: Demystifying heparan sulfate-protein interactions. Annual review of biochemistry 2014, 83:129-157. 6. Kanwar YS, Farquhar MG: Presence of heparan sulfate in the glomerular basement membrane. Proceedings of the National Academy of Sciences of the United States of America 1979, 76(3):1303-1307. 7. Kanwar YS, Linker A, Farquhar MG: Increased permeability of the glomerular basement membrane to ferritin after removal of glycosaminoglycans (heparan sulfate) by enzyme digestion. The Journal of cell biology 1980, 86(2):688-693. 8. Garsen M, Rops AL, Rabelink TJ, Berden JH, van der Vlag J: The role of heparanase and the endothelial glycocalyx in the development of proteinuria. Nephrol Dial Transplant 2014, 29(1):49-55. 9. van den Born J, van den Heuvel LP, Bakker MA, Veerkamp JH, Assmann KJ, Weening JJ, Berden JH: Distribution of GBM heparan sulfate proteoglycan core protein and side chains in human glomerular diseases. Kidney Int 1993, 43(2):454-463. 10. Singh A, Satchell SC, Neal CR, McKenzie EA, Tooke JE, Mathieson PW: Glomerular endothelial glycocalyx constitutes a barrier to protein permeability. Journal of the American Society of Nephrology : JASN 2007, 18(11):2885-2893. 11. Hogendoorn PC, de Heer E, Weening JJ, Daha MR, Hoedemaeker PJ, Fleuren GJ: Glomerular capillary wall charge and antibody binding in passive Heymann nephritis. The Journal of laboratory and clinical medicine 1988, 111(2):150-157. 12. Chen S, Wassenhove-McCarthy DJ, Yamaguchi Y, Holzman LB, van Kuppevelt TH, Jenniskens GJ, Wijnhoven TJ, Woods AC, McCarthy KJ: Loss of heparan sulfate glycosaminoglycan assembly in podocytes does not lead to proteinuria. Kidney Int 2008, 74(3):289-299. 13. Harvey SJ, Jarad G, Cunningham J, Rops AL, van der Vlag J, Berden JH, Moeller MJ, Holzman LB, Burgess RW, Miner JH: Disruption of glomerular basement membrane charge through podocyte-specific mutation of agrin does not alter glomerular permselectivity. Am J Pathol 2007, 171(1):139-152. 14. Goldberg S, Harvey SJ, Cunningham J, Tryggvason K, Miner JH: Glomerular filtration is normal in the absence of both agrin and perlecan-heparan sulfate from the glomerular basement membrane. Nephrol Dial Transplant 2009, 24(7):2044-2051. 15. Sugar T, Wassenhove-McCarthy DJ, Esko JD, van Kuppevelt TH, Holzman L, McCarthy KJ: Podocyte-specific deletion of NDST1, a key enzyme in the sulfation of heparan sulfate glycosaminoglycans, leads to abnormalities in podocyte organization in vivo. Kidney Int 2014, 85(2):307-318. 16. Khalil R, Lalai RA, Wiweger MI, Avramut CM, Koster AJ, Spaink HP, Bruijn JA, Hogendoorn PCW, Baelde HJ: Glomerular permeability is not affected by heparan sulfate glycosaminoglycan deficiency in zebrafish embryos. American journal of physiology Renal physiology 2019, 317(5):F1211-F1216.

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