News

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E,...

16 April 2019


Polyneuron raises CHF 22.5 Million in series A to advance novel therapies for autoimmune diseases

"The proceeds will be used to perform a first-in-human trial with the company’s lead product, PN-1007, a potential treatment for anti-MAG neuropathy, a rare nervous...

28 März 2019


mTOR controls embryonic and adult myogenesis via mTORC1.

Rion N, Castets P, Lin S, Enderle L, Reinhard JR, Eickhorst C, Rüegg MA. Development. 2019 Mar 14.

18 März 2019


The Solution Structure of FUS Bound to RNA Reveals a Bipartite Mode of RNA Recognition with Both Sequence and Shape Specificity.

Loughlin FE, Lukavsky PJ, Kazeeva T, Reber S, Hock EM, Colombo M, Von Schroetter C, Pauli P, Cléry A, Mühlemann O, Polymenidou M, Ruepp MD, Allain FH. Mol Cell. 2019...

07 Februar 2019


The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018.

Lochmüller H, Ambrosini A, van Engelen B, Hansson M, Tibben A, Breukel A, Sterrenburg E, Schrijvers G, Meijer I, Padberg G, Peay H, Monaco L, Snape M, Lennox A, Mazzone...

04 Februar 2019


Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F. Hum Mol Genet. 20, Jan 25. [Epub ahead of print]

31 Januar 2019


The RNA-Binding Protein PUM2 Impairs Mitochondrial Dynamics and Mitophagy During Aging.

D'Amico D, Mottis A, Potenza F, Sorrentino V, Li H, Romani M, Lemos V, Schoonjans K, Zamboni N, Knott G, Schneider BL, Auwerx J. Mol Cell. 2019 Jan 11. pii:...

22 Januar 2019


Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.

Gayi E, Neff LA, Massana Muñoz X, Ismail HM, Sierra M, Mercier T, Décosterd LA, Laporte J, Cowling BS, Dorchies OM, Scapozza L. Nat Commun. 2018 Nov 19;9(1):4848.

16 Januar 2019


ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain.

Bulla M, Gyimesi G, Kim JH, Bhardwaj R, Hediger MA, Frieden M, Demaurex N. J Physiol. 2018 Nov 1 [Epub ahead of print]

15 Januar 2019


STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice.

Silva-Rojas R, Treves S, Jacobs H, Kessler P, Messaddeq N, Laporte J, Böhm J. Hum Mol Genet. 2018 Dec 21.

21 Dezember 2018


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