Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction von Jungbluth, Heinz, Treves, Susan, Zorzato, Francesco, Sarkozy, Anna, Ochala, Julien, Sewry, Caroline, Phadke, Rahul, Gautel, Mathias, Muntoni, Francesco

Volltext

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors von Ruiz, Alexis, Benucci, Sofia, Duthaler, Urs, Bachmann, Christoph, Franchini, Martina, Noreen, Faiza, Pietrangelo, Laura, Protasi, Feliciano, Treves, Susan, Zorzato, Francesco

Volltext

Cardiac Raptor Ablation Impairs Adaptive Hypertrophy, Alters Metabolic Gene Expression, and Causes Heart Failure in Mice von SHENDE, Pankaj, PLAISANCE, Isabelle, PEDRAZZINI, Thierry, BRINK, Marijke, MORANDI, Christian, PELLIEUX, Corinne, BERTHONNECHE, Corinne, ZORZATO, Francesco, KRISHNAN, Jaya, LERCH, Rene, HALL, Michael N, RÜEGG, Markus A

Volltext

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies von Eckhardt, Jan, Ruiz, Alexis, Koenig, Stéphane, Frieden, Maud, Meier, Hervé, Schmidt, Alexander, Treves, Susan, Zorzato, Francesco

Volltext

transcriptional coactivator PGC-1α is dispensable for chronic overload-induced skeletal muscle hypertrophy and metabolic remodeling von Pérez-Schindlera, Joaquín, Summermatter, Serge, Santos, Gesa, Zorzato, Francesco, Handschin, Christoph

Volltext

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance von Ruiz, Alexis, Dror, Erez, Handschin, Christoph, Furrer, Regula, Perez-Schindler, Joaquin, Bachmann, Christoph, Treves, Susan, Zorzato, Francesco

Volltext

The Corepressor NCoR1 Antagonizes PGC-1α and Estrogen-Related Receptor α in the Regulation of Skeletal Muscle Function and Oxidative Metabolism von Pérez-Schindler, Joaquín, Summermatter, Serge, Salatino, Silvia, Zorzato, Francesco, Beer, Markus, Balwierz, Piotr J., van Nimwegen, Erik, Feige, Jérôme N., Auwerx, Johan, Handschin, Christoph

Volltext

Extraocular muscle function is impaired in ryr3 -/- mice von Eckhardt, Jan, Bachmann, Christoph, Sekulic-Jablanovic, Marijana, Enzmann, Volker, Park, Ki Ho, Ma, Jianjie, Takeshima, Hiroshi, Zorzato, Francesco, Treves, Susan

Volltext

Characterisation of a Novel Mouse Model Carrying a Non-sense Mutation in RYR1 EX36 von Zorzato, Francesco

Volltext

Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization von Rokach, Ori, Ullrich, Nina D, Rausch, Martin, Mouly, Vincent, Zhou, Haiyan, Muntoni, Francesco, Zorzato, Francesco, Treves, Susan

Volltext

Functional characterization of orbicularis oculi and extraocular muscles von Sekulic-Jablanovic, Marijana, Ullrich, Nina D, Goldblum, David, Palmowski-Wolfe, Anja, Zorzato, Francesco, Treves, Susan

Volltext

Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchER von Reddish, Florence N., Miller, Cassandra L., Deng, Xiaonan, Dong, Bin, Patel, Atit A., Ghane, Mohammad A., Mosca, Barbara, McBean, Cheyenne, Wu, Shengnan, Solntsev, Kyril M., Zhuo, You, Gadda, Giovanni, Fang, Ning, Cox, Daniel N., Mabb, Angela M., Treves, Susan, Zorzato, Francesco, Yang, Jenny J.

Volltext

Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function von Romanino, Klaas, Mazelin, Laetitia, Albert, Verena, Conjard-Duplany, Agnès, Lin, Shuo, Bentzinger, C. Florian, Handschin, Christoph, Puigserver, Pere, Zorzato, Francesco, Schaeffer, Laurent, Gangloff, Yann-Gaël, Rüegg, Markus A

Volltext

Effect of Ryanodine Receptor Mutations on Interleukin-6 Release and Intracellular Calcium Homeostasis in Human Myotubes from Malignant Hyperthermia-susceptible Individuals and Pati... von Ducreux, Sylvie, Zorzato, Francesco, Müller, Clemens, Sewry, Caroline, Muntoni, Francesco, Quinlivan, Ros, Restagno, Gabriella, Girard, Thierry, Treves, Susan

Volltext

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders von Treves, Susan, Anderson, Ayuk A., Ducreux, Sylvie, Divet, Alexandra, Bleunven, Christophe, Grasso, Cristiano, Paesante, Silvia, Zorzato, Francesco

Volltext

Ryanodine Receptor Activation by Cav1.2 Is Involved in Dendritic Cell Major Histocompatibility Complex Class II Surface Expression von Vukcevic, Mirko, Spagnoli, Giulio C., Iezzi, Giandomenica, Zorzato, Francesco, Treves, Susan

Volltext

Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion von Treves, Susan, Franzini-Armstrong, Clara, Moccagatta, Luca, Arnoult, Christophe, Grasso, Cristiano, Schrum, Adam, Ducreux, Sylvie, Zhu, Michael X, Mikoshiba, Katsuhiko, Girard, Thierry, Smida-Rezgui, Sophia, Ronjat, Michel, Zorzato, Francesco

Volltext

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed i... von Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R, Treves, Susan

Volltext

SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase von Treves, Susan, Thurnheer, Raphael, Mosca, Barbara, Vukcevic, Mirko, Bergamelli, Leda, Voltan, Rebecca, Oberhauser, Vitus, Ronjat, Michel, Csernoch, Laszlo, Szentesi, Peter, Zorzato, Francesco

Volltext

Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45 von Delbono, Osvaldo, Xia, Jinyu, Treves, Susan, Wang, Zhong-Min, Jimenez-Moreno, Ramon, Payne, Anthony M, Messi, María Laura, Briguet, Alexandre, Schaerer, Florian, Nishi, Miyuki, Takeshima, Hiroshi, Zorzato, Francesco

Volltext