Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

by Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch
Published 2019-10-01

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

by Markus Damme, Laura Brandenstein, Susanne Fehr, Wanda Jankowiak, Udo Bartsch, Michaela Schweizer, Irm Hermans-Borgmeyer, Stephan Storch
Published 2014-05-01

The CLN3 gene and protein: What we know

by Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich
Published 2019-12-01

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

by Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke
Published 2018-09-01

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

by Chiara Soldati, Irene Lopez‐Fabuel, Luca G Wanderlingh, Marina Garcia‐Macia, Jlenia Monfregola, Alessandra Esposito, Gennaro Napolitano, Marta Guevara‐Ferrer, Anna Scotto Rosato, Einar K Krogsaeter, Dominik Paquet, Christian M Grimm, Sandro Montefusco, Thomas Braulke, Stephan Storch, Sara E Mole, Maria A De Matteis, Andrea Ballabio, Julio L Sampaio, Tristan McKay, Ludger Johannes, Juan P Bolaños, Diego L Medina
Published 2021-10-01