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Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F.

Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Review.


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

Ruiz A, Dror E, Handschin C, Furrer R, Perez-Schindler J, Bachmann C, Treves S, Zorzato F.

Sci Rep. 2018 Jan 12;8(1):636. doi: 10.1038/s41598-017-18844-3.


Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.


Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.

Hum Mol Genet. 2017 Jan 15;26(2):320-332. doi: 10.1093/hmg/ddw388.


Role of the JP45-calsequestrin complex on calcium entry in slow twitch skeletal muscles.

Mosca B, Eckhardt J, Bergamelli L, Treves S, Bongianino R, De Negri M, Priori SG, Protasi F, Zorzato F.

J Biol Chem. 2016 Sep 23;291(39):20824. doi: 10.1074/jbc.A115.709071. No abstract available.


Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Treves S, Jungbluth H, Voermans N, Muntoni F, Zorzato F.

Semin Cell Dev Biol. 2017 Apr;64:201-212. doi: 10.1016/j.semcdb.2016.07.017. Epub 2016 Jul 15. Review.


An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H.

Sci Signal. 2016 Jul 5;9(435):ra68. doi: 10.1126/scisignal.aad9813.


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

Mosca B, Eckhardt J, Bergamelli L, Treves S, Bongianino R, De Negri M, Priori SG, Protasi F, Zorzato F.

J Biol Chem. 2016 Jul 8;291(28):14555-65. doi: 10.1074/jbc.M115.709071. Epub 2016 May 4. Erratum in: J Biol Chem. 2016 Sep 23;291(39):20824.


Functional characterization of orbicularis oculi and extraocular muscles.

Sekulic-Jablanovic M, Ullrich ND, Goldblum D, Palmowski-Wolfe A, Zorzato F, Treves S.

J Gen Physiol. 2016 May;147(5):395-406. doi: 10.1085/jgp.201511542. Epub 2016 Apr 11.


Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, Zhou H, Muntoni F, Gautel M, Nevo Y, Mitrani-Rosenbaum S, Attali R, Finotti A, Gambari R, Mosca B, Jungbluth H, Zorzato F, Treves S.

Hum Mol Genet. 2015 Aug 15;24(16):4636-47. doi: 10.1093/hmg/ddv195. Epub 2015 May 27.


A new cytoplasmic interaction between junctin and ryanodine receptor Ca2+ release channels.

Li L, Mirza S, Richardson SJ, Gallant EM, Thekkedam C, Pace SM, Zorzato F, Liu D, Beard NA, Dulhunty AF.

J Cell Sci. 2015 Mar 1;128(5):951-63. doi: 10.1242/jcs.160689. Epub 2015 Jan 20.


Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.

Lopez RJ, Mosca B, Treves S, Maj M, Bergamelli L, Calderon JC, Bentzinger CF, Romanino K, Hall MN, Rüegg MA, Delbono O, Caputo C, Zorzato F.

Biochem J. 2015 Feb 15;466(1):123-35. doi: 10.1042/BJ20140935.


Characterization of excitation-contraction coupling components in human extraocular muscles.

Sekulic-Jablanovic M, Palmowski-Wolfe A, Zorzato F, Treves S.

Biochem J. 2015 Feb 15;466(1):29-36. doi: 10.1042/BJ20140970.


The transcriptional coactivator PGC-1α is dispensable for chronic overload-induced skeletal muscle hypertrophy and metabolic remodeling.

Pérez-Schindler J, Summermatter S, Santos G, Zorzato F, Handschin C.

Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20314-9. doi: 10.1073/pnas.1312039110. Epub 2013 Nov 25.


Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.

Rokach O, Ullrich ND, Rausch M, Mouly V, Zhou H, Muntoni F, Zorzato F, Treves S.

Biochem J. 2013 Oct 15;455(2):169-77. doi: 10.1042/BJ20130698.


Gain of function in the immune system caused by a ryanodine receptor 1 mutation.

Vukcevic M, Zorzato F, Keck S, Tsakiris DA, Keiser J, Maizels RM, Treves S.

J Cell Sci. 2013 Aug 1;126(Pt 15):3485-92. doi: 10.1242/jcs.130310. Epub 2013 May 23.


Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice.

Mosca B, Delbono O, Laura Messi M, Bergamelli L, Wang ZM, Vukcevic M, Lopez R, Treves S, Nishi M, Takeshima H, Paolini C, Martini M, Rispoli G, Protasi F, Zorzato F.

Nat Commun. 2013;4:1541. doi: 10.1038/ncomms2496.


Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.

Hwang JH, Zorzato F, Clarke NF, Treves S.

Trends Mol Med. 2012 Nov;18(11):644-57. doi: 10.1016/j.molmed.2012.09.006. Epub 2012 Oct 12. Review.


The corepressor NCoR1 antagonizes PGC-1α and estrogen-related receptor α in the regulation of skeletal muscle function and oxidative metabolism.

Pérez-Schindler J, Summermatter S, Salatino S, Zorzato F, Beer M, Balwierz PJ, van Nimwegen E, Feige JN, Auwerx J, Handschin C.

Mol Cell Biol. 2012 Dec;32(24):4913-24. doi: 10.1128/MCB.00877-12. Epub 2012 Oct 1.


JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.

Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, Treves S, Zorzato F.

Hum Mutat. 2013 Jan;34(1):184-90. doi: 10.1002/humu.22209. Epub 2012 Oct 11.


Endogenously determined restriction of food intake overcomes excitation-contraction uncoupling in JP45KO mice with aging.

Delbono O, Messi ML, Wang ZM, Treves S, Mosca B, Bergamelli L, Nishi M, Takeshima H, Shi H, Xue B, Zorzato F.

Exp Gerontol. 2012 Apr;47(4):304-16. doi: 10.1016/j.exger.2012.01.004. Epub 2012 Jan 25.


Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function.

Romanino K, Mazelin L, Albert V, Conjard-Duplany A, Lin S, Bentzinger CF, Handschin C, Puigserver P, Zorzato F, Schaeffer L, Gangloff YG, Rüegg MA.

Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20808-13. doi: 10.1073/pnas.1111448109. Epub 2011 Dec 5.


SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase.

Treves S, Thurnheer R, Mosca B, Vukcevic M, Bergamelli L, Voltan R, Oberhauser V, Ronjat M, Csernoch L, Szentesi P, Zorzato F.

Biochem J. 2012 Jan 15;441(2):731-41. doi: 10.1042/BJ20111457.


Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber type.

Summermatter S, Thurnheer R, Santos G, Mosca B, Baum O, Treves S, Hoppeler H, Zorzato F, Handschin C.

Am J Physiol Cell Physiol. 2012 Jan 1;302(1):C88-99. doi: 10.1152/ajpcell.00190.2011. Epub 2011 Sep 14.


Cardiac raptor ablation impairs adaptive hypertrophy, alters metabolic gene expression, and causes heart failure in mice.

Shende P, Plaisance I, Morandi C, Pellieux C, Berthonneche C, Zorzato F, Krishnan J, Lerch R, Hall MN, Rüegg MA, Pedrazzini T, Brink M.

Circulation. 2011 Mar 15;123(10):1073-82. doi: 10.1161/CIRCULATIONAHA.110.977066. Epub 2011 Feb 28.


Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.

Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.

Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3.


Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F.

Hum Mol Genet. 2011 Feb 1;20(3):589-600. doi: 10.1093/hmg/ddq506. Epub 2010 Nov 18. Erratum in: Hum Mol Genet. 2011 May 15;20(10):2079.


Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions.

Treves S, Vukcevic M, Griesser J, Armstrong CF, Zhu MX, Zorzato F.

J Cell Sci. 2010 Dec 1;123(Pt 23):4170-81. doi: 10.1242/jcs.068387. Epub 2010 Nov 9.


Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells.

Vukcevic M, Zorzato F, Spagnoli G, Treves S.

J Biol Chem. 2010 May 21;285(21):16003-11. doi: 10.1074/jbc.M109.066704. Epub 2010 Mar 26.


Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles.

Treves S, Vukcevic M, Maj M, Thurnheer R, Mosca B, Zorzato F.

J Physiol. 2009 Jul 1;587(Pt 13):3071-9. doi: 10.1113/jphysiol.2009.171876. Epub 2009 Apr 29. Review.


Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus.

Finotti A, Treves S, Zorzato F, Gambari R, Feriotto G.

BMC Mol Biol. 2008 Dec 16;9:110. doi: 10.1186/1471-2199-9-110.


Skeletal muscle-specific ablation of raptor, but not of rictor, causes metabolic changes and results in muscle dystrophy.

Bentzinger CF, Romanino K, Cloëtta D, Lin S, Mascarenhas JB, Oliveri F, Xia J, Casanova E, Costa CF, Brink M, Zorzato F, Hall MN, Rüegg MA.

Cell Metab. 2008 Nov;8(5):411-24. doi: 10.1016/j.cmet.2008.10.002.


A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

Ghassemi F, Vukcevic M, Xu L, Zhou H, Meissner G, Muntoni F, Jungbluth H, Zorzato F, Treves S.

Cell Calcium. 2009 Feb;45(2):192-7. doi: 10.1016/j.ceca.2008.10.001. Epub 2008 Nov 21.


Ryanodine receptor activation by Ca v 1.2 is involved in dendritic cell major histocompatibility complex class II surface expression.

Vukcevic M, Spagnoli GC, Iezzi G, Zorzato F, Treves S.

J Biol Chem. 2008 Dec 12;283(50):34913-22. doi: 10.1074/jbc.M804472200. Epub 2008 Oct 16.


Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.

Treves S, Jungbluth H, Muntoni F, Zorzato F.

Curr Opin Pharmacol. 2008 Jun;8(3):319-26. doi: 10.1016/j.coph.2008.01.005. Epub 2008 Mar 4. Review.


Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45.

Delbono O, Xia J, Treves S, Wang ZM, Jimenez-Moreno R, Payne AM, Messi ML, Briguet A, Schaerer F, Nishi M, Takeshima H, Zorzato F.

Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):20108-13. Epub 2007 Dec 5.


SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling.

Bleunven C, Treves S, Jinyu X, Leo E, Ronjat M, De Waard M, Kern G, Flucher BE, Zorzato F.

Biochem J. 2008 Apr 15;411(2):343-9.


Transcriptional activity and Sp 1/3 transcription factor binding to the P1 promoter sequences of the human AbetaH-J-J locus.

Feriotto G, Finotti A, Breveglieri G, Treves S, Zorzato F, Gambari R.

FEBS J. 2007 Sep;274(17):4476-90. Epub 2007 Aug 6.


Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells.

Bracci L, Vukcevic M, Spagnoli G, Ducreux S, Zorzato F, Treves S.

J Cell Sci. 2007 Jul 1;120(Pt 13):2232-40. Epub 2007 Jun 13. Erratum in: J Cell Sci. 2007 Jul 15;120(Pt 14):2468.


Increased Ca2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate.

Divet A, Paesante S, Grasso C, Cavagna D, Tiveron C, Paolini C, Protasi F, Huchet-Cadiou C, Treves S, Zorzato F.

J Cell Physiol. 2007 Nov;213(2):464-74.


Functional effects of mutations identified in patients with multiminicore disease.

Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S.

IUBMB Life. 2007 Jan;59(1):14-20. Review.


Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctate.

Feriotto G, Finotti A, Breveglieri G, Treves S, Zorzato F, Gambari R.

Ann N Y Acad Sci. 2006 Dec;1091:184-90. Review.


Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum.

Zhang M, Yamazaki T, Yazawa M, Treves S, Nishi M, Murai M, Shibata E, Zorzato F, Takeshima H.

Cell Calcium. 2007 Jul;42(1):83-90. Epub 2007 Jan 3.


Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT.

Hum Mutat. 2007 Jan;28(1):61-8.


Characterization of recessive RYR1 mutations in core myopathies.

Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S.

Hum Mol Genet. 2006 Sep 15;15(18):2791-803. Epub 2006 Aug 29. Erratum in: Hum Mol Genet. 2007 May 15;16(10):1269.


Effects of an alpha-helical ryanodine receptor C-terminal tail peptide on ryanodine receptor activity: modulation by Homer.

Pouliquin P, Pace SM, Curtis SM, Harvey PJ, Gallant EM, Zorzato F, Casarotto MG, Dulhunty AF.

Int J Biochem Cell Biol. 2006;38(10):1700-15. Epub 2006 Apr 19.


The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1.

Anderson AA, Altafaj X, Zheng Z, Wang ZM, Delbono O, Ronjat M, Treves S, Zorzato F.

J Cell Sci. 2006 May 15;119(Pt 10):2145-55. Epub 2006 Apr 25.


A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

Gouadon E, Schuhmeier RP, Ursu D, Anderson AA, Treves S, Zorzato F, Lehmann-Horn F, Melzer W.

J Physiol. 2006 Apr 1;572(Pt 1):269-80. Epub 2006 Jan 19.


Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels.

Stamboulian S, Moutin MJ, Treves S, Pochon N, Grunwald D, Zorzato F, De Waard M, Ronjat M, Arnoult C.

Dev Biol. 2005 Oct 1;286(1):326-37.

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