...Kristy Swiderski; Audrey S. Chan; Marco J. Herold; Andrew J. Kueh; Jin D. Chung; Justin P. Hardee; Jennifer Trieu; Annabel Chee; Timur Naim; Paul Gregorevic; Gordon S. Lynch ABSTRACT Duchenne muscular dystrophy (DMD) is a devastating monogenic skeletal muscle-wasting disorder. Although many...

... susceptibility of skeletal muscle defects in response to extrinsic triggers, similar to TANGO2-deficient patients. Using lipidomics, we identified alterations in the glycerolipid pathway in tango2 mutants, which is critical for membrane stability and energy balance. Therefore, these studies provide insight...

.... Summary: Modeling neuromuscular diseases is challenging due to their complex etiology and pathophysiology. Here, we review the cell sources and tissue-engineering procedures that are being integrated as emerging neuromuscular disease models. Skeletal muscle Motor neurons Amyotrophic lateral...

...Joshua R. Huot; Leah J. Novinger; Fabrizio Pin; Andrea Bonetto ABSTRACT Colorectal cancer (CRC) is often accompanied by formation of liver metastases (LM) and skeletal muscle wasting, i.e. cachexia. Despite affecting the majority of CRC patients, cachexia remains underserved, understudied...

...Aurora Fusto; Louise A. Moyle; Penney M. Gilbert; Elena Pegoraro ABSTRACT The core myopathies are a group of congenital myopathies with variable clinical expression – ranging from early-onset skeletal-muscle weakness to later-onset disease of variable severity – that are identified...

... from respiratory complications on average only 2-5 years after diagnosis. There is increasing evidence that skeletal muscle is affected early in the disease process, yet the pathological processes occurring in the skeletal muscle of ALS patients are still mostly unknown. Specifically, the most common...

...Marie Rodinova; Jana Krizova; Hana Stufkova; Bozena Bohuslavova; Georgina Askeland; Zaneta Dosoudilova; Stefan Juhas; Jana Juhasova; Zdenka Ellederova; Jiri Zeman; Lars Eide; Jan Motlik; Hana Hansikova ABSTRACT Skeletal muscle wasting and atrophy is one of the more severe clinical impairments...

... by Novartis Pharmaceuticals and Hoffmann-La Roche are currently in clinical trials. Animal models Cellular models Combinatorial therapies Skeletal muscle Spinal muscular atrophy Survival motor neuron Summary: Translational research for spinal muscular atrophy (SMA) should address...

... to be associated with the aging process. We therefore utilized our well-established rat model of low birth weight and accelerated postnatal catch-up growth (termed ‘recuperated’) in this study to establish the effects of suboptimal maternal nutrition on age-associated factors in skeletal muscle. We demonstrated...

... are decreased IGF-1/Akt signalling and increased ubiquitin-proteasome pathway signalling, which induce greater myosin heavy chain degradation. Activation of the classical renin-angiotensin system (RAS) causes deleterious effects in skeletal muscle, including muscle wasting. In contrast, angiotensin-(1-7) [Ang...

...Jae-Sung You; Garrett B. Anderson; Matthew S. Dooley; Troy A. Hornberger ABSTRACT The maintenance of skeletal muscle mass contributes substantially to health and to issues associated with the quality of life. It has been well recognized that skeletal muscle mass is regulated by mechanically induced...

...), in their slow-twitch type I skeletal muscle fibers to determine the effects on SERCA function. As expected with a 6- to 7-fold overexpression of phospholamban, SERCA dysfunction was evident in Pln OE muscles, with marked reductions in rates of Ca 2+ uptake, maximal ATPase activity and the apparent affinity...

... naturally inhibits skeletal muscle growth by binding to ActRIIB, a receptor on the cell surface of myofibers. Because blocking myostatin in an adult wild-type mouse induces profound muscle hypertrophy, we applied a soluble ActRIIB receptor to models of disuse (limb immobilization) and denervation (sciatic...