News

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F, Treves S. Hum Mol Genet. 2020 Apr 2. pii: ddaa056.

06 April 2020


DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD.

Klingler C, Ashley J, Shi K, Stiefvater A, Kyba M, Sinnreich M, Aihara H, Kinter J. FASEB J. 2020 Mar;34(3):4573-4590.

30 März 2020


Induction of ligand promiscuity of αVβ3 integrin by mechanical force.

Bachmann M, Schäfer M, Mykuliak VV, Ripamonti M, Heiser L, Weißenbruch K, Krübel S, Franz CM, Hytönen VP, Wehrle-Haller B, Bastmeyer M. J Cell Sci. 2020 Mar 19. pii:...

19 März 2020


Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F,...

13 März 2020


Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.

Pereira JA, Gerber J, Ghidinelli M, Gerber D, Tortola L, Ommer A, Bachofner S, Santarella F, Tinelli E, Lin S, Rüegg MA, Kopf M, Toyka KV, Suter U. Hum Mol Genet. 2020...

04 März 2020


STIM1 long and STIM1 gate differently TRPC1 during store-operated calcium entry.

Dyrda A, Koenig S, Frieden M. Cell Calcium. 2020 Mar;86:102134.

17 Februar 2020


mTORC 1 signalling is not essential for the maintenance of muscle mass and function in adult sedentary mice.

Ham AS, Chojnowska K, Tintignac LA, Lin S, Schmidt A, Ham DJ, Sinnreich M, Rüegg MA. J Cachexia Sarcopenia Muscle. 2020 Feb;11(1):259-273

13 Februar 2020


Evaluation of the NAD+ biosynthetic pathway in ALS patients and effect of modulating NAD+ levels in hSOD1-linked ALS mouse models.

Harlan BA, Killoy KM, Pehar M, Liu L, Auwerx J, Vargas MR. Exp Neurol. 2020 Jan 31;327:113219

31 Januar 2020


PHD1 controls muscle mTORC1 in a hydroxylation-independent manner by stabilizing leucyl tRNA synthetase.

D'Hulst G, Soro-Arnaiz I, Masschelein E, Veys K, Fitzgerald G, Smeuninx B, Kim S, Deldicque L, Blaauw B, Carmeliet P, Breen L, Koivunen P, Zhao SM, De Bock K. Nat...

18 Januar 2020


Lifestyle vs. pharmacological interventions for healthy aging.

Furrer R, Handschin C. Aging (Albany NY). 2020 Jan 10:5-7.

07 Januar 2020