Browsing by Author "Bleyer, Anthony J."

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    • Article  

      Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease 

      Živná, Martina; Kidd, Kendrah; Přistoupilová, Anna; Barešová, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannová, Hana; Hodaňová, Kateřina; Stránecký, Viktor; Vrbacká, Alena; Živný, Jan; Votruba, Miroslav; Sovová, Jana; Hůlková, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomáš; Viklický, Ondřej; Rajnochová-Bloudíčková, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav; Vyleťal, Petr (2018)
      Visual Overview <img class="highwire-fragment fragment-image" alt="Figure1" src="https://jasn.asnjournals.org/content/jnephrol/29/9/2418/F1.medium.gif" width="440" height="320"/>Download figureOpen in new tabDownload ...
    • Article  

      Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy 

      Dvela-Levitt, Moran; Kost-Alimova, Maria; Emani, Maheswarareddy; Kohnert, Eva; Thompson, Rebecca; Sidhom, Eriene-Heidi; Rivadeneira, Ana; Sahakian, Nareh; Roignot, Julie; Papagregoriou, Gregory; Montesinos, Monica S.; Clark, Abbe R.; McKinney, David; Gutierrez, Juan; Roth, Mark; Ronco, Lucienne; Elonga, Esther; Carter, Todd A.; Gnirke, Andreas; Melanson, Michelle; Hartland, Kate; Wieder, Nicolas; Hsu, Jane C.-H.; Deltas, Constantinos; Hughey, Rebecca; Bleyer, Anthony J.; Kmoch, Stanislav; Živná, Martina; Barešova, Veronika; Kota, Savithri; Schlondorff, Johannes; Heiman, Myriam; Alper, Seth L.; Wagner, Florence; Weins, Astrid; Golub, Todd R.; Lander, Eric S.; Greka, Anna (2019)
      Intracellular accumulation of misfolded proteins causes toxic proteinopathies, diseases without targeted therapies. Mucin 1 kidney disease (MKD) results from a frameshift mutation in the MUC1 gene (MUC1-fs). Here, we show ...