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Items where Author is "Zorzato, Francesco"

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Ruiz, Alexis and Dror, Erez and Handschin, Christoph and Furrer, Regula and Perez-Schindler, Joaquin and Bachmann, Christoph and Treves, Susan and Zorzato, Francesco. (2018) Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance. Scientific Reports, 8 (1). p. 636.

Treves, Susan and Jungbluth, Heinz and Voermans, Nicol and Muntoni, Francesco and Zorzato, Francesco. (2017) Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. Seminars in Cell and Developmental Biology, 64. pp. 201-212.

Bachmann, Christoph and Jungbluth, Heinz and Muntoni, Francesco and Manzur, Adnan Y. and Zorzato, Francesco and Treves, Susan. (2017) Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Human molecular genetics, 26 (2). pp. 320-332.

Schartner, Vanessa and Romero, Norma B. and Donkervoort, Sandra and Treves, Susan and Munot, Pinki and Pierson, Tyler Mark and Dabaj, Ivana and Malfatti, Edoardo and Zaharieva, Irina T. and Zorzato, Francesco and Abath Neto, Osorio and Brochier, Guy and Lornage, Xavière and Eymard, Bruno and Taratuto, Ana Lia and Bohm, Johann and Gonorazky, Hernan and Ramos-Platt, Leigh and Feng, Lucy and Phadke, Rahul and Bharucha-Goebel, Diana X. and Sumner, Charlotte Jane and Bui, Mai Thao and Lacene, Emmanuelle and Beuvin, Maud and Labasse, Clémence and Dondaine, Nicolas and Schneider, Raphael and Thompson, Julie and Boland, A. and Deleuze, Jean-François and Matthews, Emma and Pakleza, Aleksandra Nadaj and Sewry, Caroline A. and Biancalana, Valérie and Quijano-Roy, Susana and Muntoni, Francesco and Fardeau, Michel and Bönnemann, Carsten G. and Laporte, Jocelyn. (2017) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta neuropathologica, 133 (4). pp. 517-533.

Lopez, Rubén J. and Byrne, Susan and Vukcevic, Mirko and Sekulic-Jablanovic, Marijana and Xu, Lifen and Brink, Marijke and Alamelu, Jay and Voermans, Nicol and Snoeck, Marc and Clement, Emma and Muntoni, Francesco and Zhou, Haiyan and Radunovic, Aleksandar and Mohammed, Shehla and Wraige, Elizabeth and Zorzato, Francesco and Treves, Susan and Jungbluth, Heinz. (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling, 9 (435). ra68.

Sekulic-Jablanovic, Marijana and Ullrich, Nina D. and Goldblum, David and Palmowski-Wolfe, Anja and Zorzato, Francesco and Treves, Susan. (2016) Functional characterization of orbicularis oculi and extraocular muscles. Journal of General Physiology, 147 (5). pp. 395-406.

Mosca, Barbara and Eckhardt, Jan and Bergamelli, Leda and Treves, Susan and Bongianino, Rossana and De Negri, Marco and Priori, Silvia G. and Protasi, Feliciano and Zorzato, Francesco. (2016) Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles. Journal of Biological Chemistry, 291 (28). pp. 14555-14565.

Rokach, Ori and Sekulic-Jablanovic, Marijana and Voermans, Nicol and Wilmshurst, Jo and Pillay, Komala and Heytens, Luc and Zhou, Haiyan and Muntoni, Francesco and Gautel, Mathias and Nevo, Yoram and Mitrani-Rosenbaum, Stella and Attali, Ruben and Finotti, Alessia and Gambari, Roberto and Mosca, Barbara and Jungbluth, Heinz and Zorzato, Francesco and Treves, Susan. (2015) Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Human Molecular Genetics, 24 (16). pp. 4636-4647.

Lopez, Rubén J. and Mosca, Barbara and Treves, Susan and Maj, Marcin and Bergamelli, Leda and Calderon, Juan C. and Bentzinger, C. Florian and Romanino, Klaas and Hall, Michael N. and Rüegg, Markus A. and Delbono, Osvaldo and Caputo, Carlo and Zorzato, Francesco. (2015) Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex. Biochemical Journal, 466 (1). pp. 123-135.

Mosca, Barbara and Delbono, Osvaldo and Laura Messi, Maria and Bergamelli, Leda and Wang, Zhong-Min and Vukcevic, Mirko and Lopez, Ruben and Treves, Susan and Nishi, Miyuki and Takeshima, Hiroshi and Paolini, Cecilia and Martini, Marta and Rispoli, Giorgio and Protasi, Feliciano and Zorzato, Francesco. (2013) Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice. Nature Communications, 4. p. 1541.

Pérez-Schindler, Joaquín and Summermatter, Serge and Santos, Gesa and Zorzato, Francesco and Handschin, Christoph. (2013) The transcriptional coactivator PGC-1α is dispensable for chronic overload-induced skeletal muscle hypertrophy and metabolic remodeling. Proceedings of the National Academy of Sciences of the United States of America, Vol. 110, H. 50. pp. 20314-20319.

Delbono, Osvaldo and Messi, Maria Laura and Wang, Zhong-Min and Treves, Susan and Mosca, Barbara and Bergamelli, Leda and Nishi, Miyuki and Takeshima, Hiroshi and Shi, Hang and Xue, Bingzhong and Zorzato, Francesco. (2012) Endogenously determined restriction of food intake overcomes excitation–contraction uncoupling in JP45KO mice with aging. Experimental Gerontology, 47 (4). pp. 304-316.

Summermatter, Serge and Thurnheer, Raphael and Santos, Gesa and Mosca, Barbara and Baum, Oliver and Treves, Susan and Hoppeler, Hans and Zorzato, Francesco and Handschin, Christoph. (2012) Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber type. American Journal of Physiology, 302 (1). C88-99.

Treves, Susan and Thurnheer, Raphael and Mosca, Barbara and Vukcevic, Mirko and Bergamelli, Leda and Voltan, Rebecca and Oberhauser, Vitus and Ronjat, Michel and Csernoch, Laszlo and Szentesi, Peter and Zorzato, Francesco. (2012) SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase. Biochemical Journal, 441 (2). pp. 731-741.

Pérez-Schindler, Joaquín and Summermatter, Serge and Salatino, Silvia and Zorzato, Francesco and Beer, Markus and Balwierz, Piotr J. and van Nimwegen, Erik and Feige, Jérôme N. and Auwerx, Johan and Handschin, Christoph. (2012) The Corepressor NCoR1 Antagonizes PGC-1α and Estrogen-Related Receptor α in the Regulation of Skeletal Muscle Function and Oxidative Metabolism. Molecular and cellular biology, Vol. 32, H. 24. pp. 4913-4924.

Romanino, Klaas and Mazelin, Laetitia and Albert, Verena and Conjard-Duplany, Agnès and Lin, Shuo and Bentzinger, C. Florian and Handschin, Christoph and Puigserver, Pere and Zorzato, Francesco and Schaeffer, Laurent and Gangloff, Yann-Gaël and Rüegg, Markus A.. (2011) Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function. Proceedings of the National Academy of Sciences of the United States of America, Vol. 108, H. 51. pp. 20808-20813.

Treves, Susan and Vukcevic, Mirko and Griesser, Johanna and Franzini-Armstrong, Clara and Zhu, Michael X. and Zorzato, Francesco. (2010) Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions. Journal of Cell Science, 123. pp. 4170-4181.

Vukcevic, Mirko and Zorzato, Francesco and Spagnoli, Giulio and Treves, Susan. (2010) Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells. Journal of Biological Chemistry, 285 (21). pp. 16003-16011.

Ghassemi, Farshid and Vukcevic, Mirko and Xu, Le and Zhou, Haiyan and Meissner, Gerhard and Muntoni, Francesco and Jungbluth, Heinz and Zorzato, Francesco and Treves, Susan. (2009) A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium, 45 (2). pp. 192-197.

Treves, Susan and Vukcevic, Mirko and Maj, Marcin and Thurnheer, Raphael and Mosca, Barbara and Zorzato, Francesco. (2009) Minor sarcoplasmic reticulum membrane components that modulate excitation–contraction coupling in striated muscles. Journal of Physiology, 587 (13). pp. 3071-3079.

Treves, Susan and Jungbluth, Heinz and Muntoni, Francesco and Zorzato, Francesco. (2008) Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Current Opinion in Pharmacology, 8 (3). pp. 319-326.

Bleunven, Christophe and Treves, Susan and Jinyu, Xia and Leo, Elisa and Ronjat, Michel and De Waard, Michel and Kern, Georg and Flucher, Bernhard E. and Zorzato, Francesco. (2008) SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling. Biochemical Journal, 411 (2). pp. 343-349.

Finotti, Alessia and Treves, Susan and Zorzato, Francesco and Gambari, Roberto and Feriotto, Giordana. (2008) Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus. BMC molecular biology, 9. p. 110.

Zhang, Miao and Yamazaki, Tetsuo and Yazawa, Masayuki and Treves, Susan and Nishi, Miyuki and Murai, Machiko and Shibata, Eisuke and Zorzato, Francesco and Takeshima, Hiroshi. (2007) Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum. Cell Calcium, 42 (1). pp. 83-90.

Zorzato, Francesco and Jungbluth, Heinz and Zhou, Haiyan and Muntoni, Francesco and Treves, Susan. (2007) Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life, 59 (1). pp. 14-20.

Divet, Alexandra and Paesante, Silvia and Grasso, Cristiano and Cavagna, Dario and Tiveron, Cecilia and Paolini, Cecilia and Protasi, Feliciano and Huchet-Cadiou, Corinne and Treves, Susan and Zorzato, Francesco. (2007) Increased Ca2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate. Journal of Cellular Physiology, 213 (2). pp. 464-474.

Delbono, Osvaldo and Xia, Jinyu and Treves, Susan and Wang, Zhong-Min and Jimenez-Moreno, Ramon and Payne, Anthony M. and Messi, María Laura and Briguet, Alexandre and Schaerer, Florian and Nishi, Miyuki and Takeshima, Hiroshi and Zorzato, Francesco. (2007) Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. Proceedings of the National Academy of Sciences , 104 (50). pp. 20108-20113.

Feriotto, Giordana and Finotti, Alessia and Breveglieri, Giulia and Treves, Susan and Zorzato, Francesco and Gambari, Roberto. (2007) Transcriptional activity and Sp 1/3 transcription factor binding to the P1 promoter sequences of the human AbetaH-J-J locus. FEBS Journal, 274 (17). pp. 4476-4490.

Lyfenko, Alla D. and Ducreux, Sylvie and Wang, Ying and Xu, Le and Zorzato, Francesco and Ferreiro, Ana and Meissner, Gerhard and Treves, Susan and Dirksen, Robert T.. (2007) Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Human Mutation, 28 (1). pp. 61-68.

Zhou, Haiyan and Yamaguchi, Naohiro and Xu, Le and Wang, Ying and Sewry, Caroline and Jungbluth, Heinz and Zorzato, Francesco and Bertini, Enrico and Muntoni, Francesco and Meissner, Gerhard and Treves, Susan. (2006) Characterization of recessive RYR1 mutations in core myopathies. Human Molecular Genetics, 15 (18). pp. 2791-2803.

Ducreux, Sylvie and Zorzato, Francesco and Ferreiro, Ana and Jungbluth, Heinz and Muntoni, Francesco and Monnier, Nicole and Müller, Clemens R. and Treves, Susan. (2006) Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochemical Journal, 395 (2). pp. 259-266.

Feriotto, Giordana and Finotti, Alessia and Breveglieri, Giulia and Treves, Susan and Zorzato, Francesco and Gambari, Roberto. (2006) Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctate. Annals of the New York Academy of Sciences, 1091. pp. 184-190.

Anderson, Ayuk A. and Altafaj, Xavier and Zheng, Zhenlin and Wang, Zhong-Min and Delbono, Osvaldo and Ronjat, Michel and Treves, Susan and Zorzato, Francesco. (2006) The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1. Journal of Cell Science, 119 (10). pp. 2145-2155.

Stamboulian, Séverine and Moutin, Marie-Jo and Treves, Susan and Pochon, Nathalie and Grunwald, Didier and Zorzato, Francesco and De Waard, Michel and Ronjat, Michel and Arnoult, Christophe. (2005) Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels. Developmental Biology, 286 (1). pp. 326-337.

Feriotto, Giordana and Finotti, Alessia and Volpe, Pompeo and Treves, Susan and Ferrari, Stefano and Angelelli, Cecilia and Zorzato, Francesco and Gambari, Roberto. (2005) Myocyte enhancer factor 2 activates promoter sequences of the human AbetaH-J-J locus, encoding aspartyl-beta-hydroxylase, junctin, and junctate. Molecular and Cellular Biology, 25 (8). pp. 3261-3275.

Treves, Susan and Anderson, Ayuk A. and Ducreux, Sylvie and Divet, Alexandra and Bleunven, Christophe and Grasso, Cristiano and Paesante, Silvia and Zorzato, Francesco. (2005) Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscular Disorders, 15 (9-10). pp. 577-587.

Ducreux, Sylvie and Zorzato, Francesco and Müller, Clemens and Sewry, Caroline and Muntoni, Francesco and Quinlivan, Ros and Restagno, Gabriella and Girard, Thierry and Treves, Susan. (2004) Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. Journal of Biological Chemistry, 279 (42). pp. 43838-43846.

Treves, Susan and Franzini-Armstrong, Clara and Moccagatta, Luca and Arnoult, Christophe and Grasso, Cristiano and Schrum, Adam and Ducreux, Sylvie and Zhu, Michael X. and Mikoshiba, Katsuhiko and Girard, Thierry and Smida-Rezgui, Sophia and Ronjat, Michel and Zorzato, Francesco. (2004) Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion. Journal of Cell Biology, 166 (4). pp. 537-548.

Zorzato, Francesco and Yamaguchi, Naohiro and Xu, Le and Meissner, Gerhard and Müller, Clemens R. and Pouliquin, Pierre and Muntoni, Francesco and Sewry, Caroline and Girard, Thierry and Treves, Susan. (2003) Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Human Molecular Genetics, 12 (4). pp. 379-388.

Skeie, Geir Olve and Mygland, Ase and Treves, Susan and Gilhus, Nils Erik and Aarli, Johan Arild and Zorzato, Francesco. (2003) Ryanodine receptor antibodies in myasthenia gravis : epitope mapping and effect on calcium release in vitro. Muscle and Nerve , 27 (1). pp. 81-89.

Anderson, Ayuk A. and Treves, Susan and Biral, Donatella and Betto, Romeo and Sandonà, Doriana and Ronjat, Michel and Zorzato, Francesco. (2003) The novel skeletal muscle sarcoplasmic reticulum JP-45 protein : molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel. Journal of Biological Chemistry, 278 (41). pp. 39987-39992.

This list was generated on Mon Oct 25 22:03:56 2021 CEST.