News
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 gennaio 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 gennaio 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 gennaio 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 gennaio 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 dicembre 2018
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. 2018...
11 dicembre 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J,...
02 dicembre 2018
Distinct patterns of skeletal muscle mitochondria fusion, fission and mitophagy upon duration of exercise training.
Arribat Y, Broskey NT, Greggio C, Boutant M, Conde Alonso S, Kulkarni SS, Lagarrigue S, Carnero EA, Besson C, Cantó C, Amati F. Acta Physiol (Oxf). 2018 Aug 24:e13179.
02 settembre 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva I, Sarkozy A, Munot P, Manzur A, et al. Hum Mutat. 2018 Aug 31.
31 agosto 2018
Muscle Wasting Diseases: Novel Targets and Treatments.
Furrer R, Handschin C. Annu Rev Pharmacol Toxicol. 2018 Aug 27
27 agosto 2018
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