Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro

by Stefanie Spiegler, Matthias Rath, Christiane D. Much, Barbara S. Sendtner, Ute Felbor
Published 2019-07-01

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells

by Christiane D. Much, Barbara S. Sendtner, Konrad Schwefel, Eric Freund, Sander Bekeschus, Oliver Otto, Axel Pagenstecher, Ute Felbor, Matthias Rath, Stefanie Spiegler
Published 2021-07-01

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

by Christiane D. Much, Konrad Schwefel, Dariush Skowronek, Loay Shoubash, Felix von Podewils, Miriam Elbracht, Stefanie Spiegler, Ingo Kurth, Agnes Flöel, Henry W. S. Schroeder, Ute Felbor, Matthias Rath
Published 2019-11-01

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

by Sahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, M Mahdi Motazacker, Bonnie Nijhof, Anna Castells-Nobau, Zoltan Asztalos, Robert Weißmann, Farkhondeh Behjati, Andreas Tzschach, Ute Felbor, Harry Scherthan, Seyed Morteza Sayfati, H Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Jason R Swedlow, Annette Schenck, Andreas W Kuss
Published 2016-05-01