Upstream stimulatory factors are involved in the P1 promoter directed transcription of the AbetaH-J-J locus

por Finotti, Alessia, Treves, Susan, Zorzato, Francesco, Gambari, Roberto, Feriotto, Giordana
Publicado 2008

The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect

por Wang, Min, Keogh, Adrian, Treves, Susan, Idle, Jeffrey R., Beyoğlu, Diren
Publicado 2016

Functional characterization of orbicularis oculi and extraocular muscles

por Sekulic-Jablanovic, Marijana, Ullrich, Nina D., Goldblum, David, Palmowski-Wolfe, Anja, Zorzato, Francesco, Treves, Susan
Publicado 2016

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

por Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C
Publicado 2016

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies

por Eckhardt, Jan, Ruiz, Alexis, Koenig, Stéphane, Frieden, Maud, Meier, Hervé, Schmidt, Alexander, Treves, Susan, Zorzato, Francesco
Publicado 2023

Alterations of Excitation–Contraction Coupling and Excitation Coupled Ca(2+) Entry in Human Myotubes Carrying CAV3 Mutations Linked to Rippling Muscle Disease

por Ullrich, Nina D, Fischer, Dirk, Kornblum, Cornelia, Walter, Maggie C, Niggli, Ernst, Zorzato, Francesco, Treves, Susan
Publicado 2011

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance

por Ruiz, Alexis, Dror, Erez, Handschin, Christoph, Furrer, Regula, Perez-Schindler, Joaquin, Bachmann, Christoph, Treves, Susan, Zorzato, Francesco
Publicado 2018

Agrin regulates CLASP2-mediated capture of microtubules at the neuromuscular junction synaptic membrane

por Schmidt, Nadine, Basu, Sreya, Sladecek, Stefan, Gatti, Sabrina, van Haren, Jeffrey, Treves, Susan, Pielage, Jan, Galjart, Niels, Brenner, Hans Rudolf
Publicado 2012

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles

por Mosca, Barbara, Eckhardt, Jan, Bergamelli, Leda, Treves, Susan, Bongianino, Rossana, De Negri, Marco, Priori, Silvia G., Protasi, Feliciano, Zorzato, Francesco
Publicado 2016

Extraocular muscle function is impaired in ryr3(−/−) mice

por Eckhardt, Jan, Bachmann, Christoph, Sekulic-Jablanovic, Marijana, Enzmann, Volker, Park, Ki Ho, Ma, Jianjie, Takeshima, Hiroshi, Zorzato, Francesco, Treves, Susan
Publicado 2019

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

por Ruiz, Alexis, Benucci, Sofia, Duthaler, Urs, Bachmann, Christoph, Franchini, Martina, Noreen, Faiza, Pietrangelo, Laura, Protasi, Feliciano, Treves, Susan, Zorzato, Francesco
Publicado 2022

Role of sarcoplasmic reticulum junctional proteins in skeletal muscle strength

por Mosca, Barbara, Delbono, Osvaldo, Messi, Maria Laura, Bergamelli, Leda, Vukcevic, Mirko, Lopez, Ruben, Treves, Susan, Nishi, Miyuki, Takeshima, Hiroshi, Zorzato, Francesco
Publicado 2014

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

por Attali, Ruben, Aharoni, Sharon, Treves, Susan, Rokach, Ori, Becker Cohen, Michal, Fellig, Yakov, Straussberg, Rachel, Dor, Talya, Daana, Muhannad, Mitrani-Rosenbaum, Stella, Nevo, Yoram
Publicado 2013

Junctate is a key element in calcium entry induced by activation of InsP(3) receptors and/or calcium store depletion

por 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
Publicado 2004

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

por Matthews, Emma, Neuwirth, Christoph, Jaffer, Fatima, Scalco, Renata S., Fialho, Doreen, Parton, Matt, Raja Rayan, Dipa, Suetterlin, Karen, Sud, Richa, Spiegel, Roland, Mein, Rachel, Houlden, Henry, Schaefer, Andrew, Healy, Estelle, Palace, Jacqueline, Quinlivan, Ros, Treves, Susan, Holton, Janice L., Jungbluth, Heinz, Hanna, Michael G.
Publicado 2018

Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis

por van den Bersselaar, Luuk R, Jungbluth, Heinz, Kruijt, Nick, Kamsteeg, Erik-Jan, Fernandez-Garcia, Miguel A, Treves, Susan, Riazi, Sheila, Malagon, Ignacio, van Eijk, Lucas T, van Alfen, Nens, van Engelen, Baziel G M, Scheffer, Gert-Jan, Snoeck, Marc M J, Voermans, Nicol C
Publicado 2022

Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchER(+)

por 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.
Publicado 2021

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

por Bachmann, Christoph, Franchini, Martina, Van den Bersselaar, Luuk R, Kruijt, Nick, Voermans, Nicol C, Bouman, Karlijn, Kamsteeg, Erik-Jan, Knop, Karl Christian, Ruggiero, Lucia, Santoro, Lucio, Nevo, Yoram, Wilmshurst, Jo, Vissing, John, Sinnreich, Michael, Zorzato, Daniele, Muntoni, Francesco, Jungbluth, Heinz, Zorzato, Francesco, Treves, Susan
Publicado 2022

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility

por van den Bersselaar, Luuk R., van Alfen, Nens, Kruijt, Nick, Kamsteeg, Erik-Jan, Fernandez-Garcia, Miguel A., Treves, Susan, Riazi, Sheila, Yang, Chu-Ya, Malagon, Ignacio, van Eijk, Lucas T., van Engelen, Baziel G.M., Scheffer, Gert-Jan, Jungbluth, Heinz, Snoeck, Marc M.J., Voermans, Nicol C.
Publicado 2023

The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol

por van den Bersselaar, Luuk R., Kruijt, Nick, Scheffer, Gert-Jan, van Eijk, Lucas, Malagon, Ignacio, Buckens, Stan, Custers, José AE, Helder, Leonie, Greco, Anna, Joosten, Leo AB, van Engelen, Baziel GM, van Alfen, Nens, Riazi, Sheila, Treves, Susan, Jungbluth, Heinz, Snoeck, Marc MJ, Voermans, Nicol C.
Publicado 2021