Blar i Bergen Open Research Archive på forfatter "Mauer, Michael"

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    • Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss 

      Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Gubler, Marie-Claire; Oliveira, Joao-Paulo; Mauer, Michael (Journal article; Peer reviewed, 2020)
      Background In males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A lead to accumulation of globotriaosylceramide (GL3) ...

    • Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy 

      Braun, Fabian; Abed, Ahmed; Sellung, Dominik; Rogg, Manuel; Woidy, Mathias; Eikrem, Øystein Solberg; Wanner, Nicola; Gambardella, Jessica; Laufer, Sandra; Haas, Fabian; Wong, Milagros; Dumoulin, Bernhard; Rischke, Paula; Mühlig, Anne; Sachs, Wiebke; von Cossel, Katharina M; Schulz, Kristina; Muschol, Nicole; Gersting, Sören; Muntau, Ania C.; Kretz, Oliver; Hahn, Oliver; Rinschen, Markus; Mauer, Michael; Bork, Tillmann; Grahammer, Florian; Liang, Wei; Eierhoff, Thorsten; Römer, Winfried; Hansen, Arne; Meyer-Schwesinger, Catherine; Iaccarino, Guido; Tøndel, Camilla; Marti, Hans Peter; Najafian, Behzad; Puelles, Victor G; Schell, Christoph; Huber, Tobias B (Journal article; Peer reviewed, 2023)
      Current therapies for Fabry disease are based on reversing intracellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated stabilization of the defective enzyme, thereby ...

    • Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry registry 

      Hopkin, Robert J.; Cabrera, Gustavo; Jefferies, John; Yang, Meng; Ponce, Elvira; Brand, Eva; Feldt-Rasmussen, Ulla; Germain, Dominique P.; Guffon, Nathalie; Jovanovic, Ana; Kantola, Ilkka; Karaa, Amel; Martins, Ana; Tøndel, Camilla; Wilcox, William R; Yoo, Han-Wook; Burlina, Alessandro; Mauer, Michael (Journal article; Peer reviewed, 2023)
      Background Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific ...

    • Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease 

      Mauer, Michael; Glynn, Emily; Svarstad, Einar; Tøndel, Camilla; Gubler, Marie-Claire; West, Michael; Sokolovskiy, Alexey; Whitley, Chester; Najafian, Behzad (Peer reviewed; Journal article, 2014-11-11)
      Background: Fabry disease. an X-linked deficiency of α-galactosidase A coded by the GLA gene, leads to intracellular globotriaosylceramide (GL-3) accumulation. Although less common than in males, chronic kidney disease, ...