Selected Publications Sinnreich

Ham DJ, Börsch A, Lin S, Thürkauf M, Weihrauch M, Reinhard JR, Delezie J, Battilana F, Wang X, Kaiser MS, Guridi M, Sinnreich M, Rich MM, Mittal N, Tintignac LA, Handschin C, Zavolan M, Rüegg MA. The neuromuscular junction is a focal point of mTORC1 signaling in sar-copenia. Nat Commun. 2020 Sep 9;11(1). 

Klingler C, Ashley J, Shi K, Stiefvater A, Kyba M, Sinnreich M, Aihara H, Kinter J. (2020). DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD. FASEB J. 2020 Mar;34(3):4573–4590.

Ham AS, Chojnowska K, Tintignac LA, Lin S, Schmidt A, Ham DJ, Sinnreich M, Rüegg MA. mTORC1 signalling is not essential for the maintenance of muscle mass and function in adult sedentary mice. J Cachexia Sarcopenia Muscle. 2020 Feb;11(1):259–273.

Castets P, Rion N, Théodore M, Falcetta D, Lin S, Reischl M, Wild F, Guérard L, Eickhorst C, Brockhoff M, Guridi M, Ibebunjo C, Cruz J, Sinnreich M, Rudolf R, Glass DJ, Rüegg MA. mTORC1 and PKB/Akt control the muscle response to denervation by regulating autophagy and HDAC4. Nat Commun. 2019 Jul 18;10(1):3187

Brockhoff M, Rion N, Chojnowska K, Wiktorowicz T, Eickhorst C, Erne B, Frank S, Angelini C, Furling D, Rüegg MA, Sinnreich M, Castets P. Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myoton-ic dystrophy type I. J Clin Invest. 2017 Feb 1;127(2):549–563.

Selected Publications Treves

Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F and Treves S (2020). Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations. Hum Mol. Genet. 29,1330–1339.

Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S and Zorzato F (2020). Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. J. Biol. Chem. 295, 10331–10339.

Elbaz M, Ruiz A, Bachmann C, Eckhardt J, Pelczar P, Venturi E, Lindsay C, Wilson AD, Alhussni A, Humberstone T,  et al. (2019). Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. Hum. Mol. Genet. 28, 2987–2999.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, et al. (2019). Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Hum. Mutat. 40, 962-974

Ruiz A, Dror E., Handschin C, Furrer R, Perez-Schindler J, Bachmann C, Treves S and Zorzato F (2018). Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance. Sci. Rep. 8, 636 doi: 10.1038/s41598-017-18844-3.