Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Multi-omics research in sarcopenia: current progress and future prospects

JC Liu, SS Dong, H Shen, DY Yang, BB Chen… - Ageing Research …, 2022 - Elsevier
Sarcopenia is a systemic disease with progressive and generalized skeletal muscle
dysfunction defined by age-related low muscle mass, high content of muscle slow fibers, and …

Intermittent glucocorticoid treatment enhances skeletal muscle performance through sexually dimorphic mechanisms

IM Salamone, M Quattrocelli… - The Journal of …, 2022 - Am Soc Clin Investig
Glucocorticoid steroids are commonly prescribed for many inflammatory conditions, but
chronic daily use produces adverse effects, including muscle wasting and weakness. In …

[HTML][HTML] Cardiomyopathy in Duchenne Muscular Dystrophy and the Potential for Mitochondrial Therapeutics to Improve Treatment Response

S Gandhi, HL Sweeney, CC Hart, R Han, CGR Perry - Cells, 2024 - mdpi.com
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease caused by
mutations to the dystrophin gene, resulting in deficiency of dystrophin protein, loss of …

Muscle mitochondrial remodeling by intermittent glucocorticoid drugs requires an intact circadian clock and muscle PGC1α

M Quattrocelli, M Wintzinger, K Miz, DC Levine… - Science …, 2022 - science.org
Exogenous glucocorticoids interact with the circadian clock, but little attention is paid to the
timing of intake. We recently found that intermittent once-weekly prednisone improved …

Cardiovascular disease in Duchenne muscular dystrophy: overview and insight into novel therapeutic targets

TI Schultz, FJ Raucci Jr, FN Salloum - Basic to Translational Science, 2022 - jacc.org
Duchenne muscular dystrophy (DMD) is a devastating disease affecting approximately 1 in
every 3,500 male births worldwide. Multiple mutations in the dystrophin gene have been …

Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell–derived skeletal muscle in vitro

Z Al Tanoury, JF Zimmerman, J Rao… - Proceedings of the …, 2021 - National Acad Sciences
Duchenne muscular dystrophy (DMD) is a devastating genetic disease leading to
degeneration of skeletal muscles and premature death. How dystrophin absence leads to …

GSK3 inhibition improves skeletal muscle function and whole-body metabolism in male mouse models of Duchenne muscular dystrophy

BM Marcella, BL Hockey, JL Braun, KC Whitley… - Nature …, 2024 - nature.com
Inhibiting glycogen synthase kinase 3 (GSK3) improves muscle function, metabolism, and
bone health in many diseases and conditions; however, whether GSK3 should be targeted …

Comparing deflazacort and prednisone in Duchenne muscular dystrophy

WD Biggar, A Skalsky… - Journal of neuromuscular …, 2022 - content.iospress.com
Deflazacort and prednisone/prednisolone are the current standard of care for patients with
Duchenne muscular dystrophy (DMD) based on evidence that they improve muscle strength …

[HTML][HTML] Dimethyl fumarate modulates the dystrophic disease program following short-term treatment

CA Timpani, S Kourakis, DA Debruin, DG Campelj… - JCI insight, 2023 - ncbi.nlm.nih.gov
New medicines are urgently required to treat the fatal neuromuscular disease Duchenne
muscular dystrophy (DMD). Dimethyl fumarate (DMF) is a potent immunomodulatory small …