Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome

Autor: Julia, Flemming, Maike, Marczenke, Ina-Maria, Rudolph, Rikke, Nielsen, Tina, Storm, Ilsoe Christensen, Erik, Sebastian, Diecke, Francesco, Emma, Thomas E, Willnow

Publikováno v: Flemming, J, Marczenke, M, Rudolph, I M, Nielsen, R, Storm, T, Christensen, E I, Diecke, S, Emma, F & Willnow, T E 2020, ' Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome ', Kidney International, vol. 98, no. 1, pp. 159-167 . https://doi.org/10.1016/j.kint.2020.02.021
Kidney International

Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations

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https://pure.au.dk/ws/files/220252028/1_s2.0_S0085253820302635_main.pdf