R. Scalco, R. Quinlivan, A. Lucia, A. Santalla, A. Martinuzzi, A. Toscano, O. Musumeci, B. San Milan, H. Durmus, N. Voermans, P. Laforêt, E. Kuhnle, M. Martin, G. Siciliano, S. Sacconi, X. Ortega, T. Pinos, R. Marti, J. Vissing September 10, 2017

EUROMAC was established to collect comprehensive data on GSDV and related glycogen storage diseases, with the goal to facilitate the characterization of the natural history of rare muscle glycogenoses, report on estimated prevalence and regional differences in phenotype/genotype, assist in the selection of suitable outcome measures, create a comprehensive cohort of patients with rare muscle glycogenoses, from which potentially participants in clinical trials can be recruited, and assist in developing standards of care for muscle glycogenoses.… Read More...

R. Boursereau, M. Abou-Samra, S. Lecompte, L. Noel, S. Brichard September 10, 2017

Assembly of the NLRP3 inflammasome leads to caspase-1 activation and mediates the cleaving and release of several inflammatory cytokines. The NLRP3 inflammasome can amplify inflammatory responses and thus worsen several diseases. Duchenne muscular dystrophy (DMD) is one of the most devastating muscle disease and it is known to harbour a severe inflammation.… Read More...

R. Shell, S. Al-Zaidy, W. Arnold, L. Rodino-Klapac, T. Prior, L. Lowes, L. Alfano, K. Berry, K. Church, J. Kissel, S. Nagendran, J. L'Italien, D. Sproule, C. Wells, A. Burghes, K. Foust, K. Meyer, S. Likhite, B. Kaspar, J. Mendell September 10, 2017

Spinal muscular atrophy Type 1 (SMA1) is devastating monogenic neurodegenerative disease characterized by lower motor neuron loss. Motor neuron loss results in severe swallowing and breathing dysfunction that, without nutritional and ventilatory support, leads to malnutrition, chronic aspiration, and ultimately death via respiratory failure.… Read More...

K. Patel, K. Alyodawi, S. Omairi, W. Vermeij, O. Kretz, F. Salagna, T. Huber September 10, 2017

A dominant principle underpinning our understanding of the ageing process is that DNA damage induces a stress response that shifts cellular resources from growth towards maintenance. A contrasting and seemingly irreconcilable view is that prompting growth of, for example skeletal muscle, results in systemic benefit.… Read More...

V. Mariot, R. Joubert, C. Hourdé, L. Féasson, M. Hanna, F. Muntoni, T. Maisonobe, L. Servais, R. Le Panse, O. Benveniste, T. Stojkovic, P. Machado, T. Voit, A. Buj-Bello, J. Dumonceaux September 10, 2017

Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues and treating wasting muscle is one of the biggest issues in the neuromuscular field. Several drugs targeting the myostatin pathway have been used in clinical trials to increase muscle mass and function but so far, most drugs had no or limited effects in improving function in neuromuscular patients.… Read More...

H. Komaki, E. Takeshita, Y. Motohashi, A. Ishiyama, M. Sasaki, K. Miyoshi, I. Yamamiya, N. Yamada, N. Minami September 10, 2017

Inflammation plays a major role in the pathogenesis of Duchenne muscular dystrophy (DMD). Prostaglandin D2 (PGD2) is produced by various inflammatory cells, and hematopoietic PGD synthase (HPGDS) is shown to be expressed in necrotic muscle of DMD patients. The administration of an HPGDS inhibitor decreased the urinary excretion of tetranor-PGDM, a urinary metabolite of PGD2, and suppressed myonecrosis in a mdx mouse model of DMD.… Read More...

R. Bloch, V. Lukyanenko, J. Muriel September 10, 2017

Dysferlin normally concentrates in the transverse tubules of skeletal muscle. When it is absent in dysferlin-null (A/J) fibers, osmotic shock injury (OSI) decreases the amplitude of voltage-induced Ca2+-transients (VICTs) and also markedly increases sarcoplasmic Ca2+ (Kerr et al, PNAS, 2013). Neither occurs in control A/WySnJ fibers.… Read More...

J. Laitila, E. McNamara, H. Goullee, M. Lawlor, J. Ochala, L. Griffiths, G. Ravenscroft, C. Sewry, N. Laing, C. Wallgren-Pettersson, K. Pelin, K. Nowak September 10, 2017

The typical form of autosomal recessive nemaline myopathy (NM) is most commonly caused by mutations in the nebulin gene (NEB). NEB mutations account for at least 50% of all NM cases worldwide, thus represent a significant disease burden. Most NEB-NM patients have a compound heterozygous genotype.… Read More...

C. Semplicini, C. Bertolin, B. Pantic, L. Bello, S. Vianello, F. Catapano, I. Colombo, M. Moggio, G. Sorarù, G. Cenacchi, C. Calore, R. Stramare, E. Pegoraro September 10, 2017

The triad is the skeletal muscle substructure responsible for excitation–contraction coupling by regulation of intracellular calcium homeostasis. A rapidly growing list of skeletal myopathies are caused by gene mutations in components of the triad (CASQ1, STIM1 and ORAI1), but the clinical and molecular features of these diseases are still largely unknown.… Read More...

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