The Hidetoshi Sakurai Laboratory at CiRA has successfully reproduced the pathology of Myotonic Dystrophy type 1 (DM1) using skeletal muscle cells generated from patient-derived iPS cells and ...

These results suggest that miR-1 and miR-206 are potent targets for rescuing the skeletal muscle pathology in SMA. This study has identified one of the pathogenic mechanisms of skeletal muscle lesions ...

Mentees and collaborators pay tribute to Professor Terence Partridge, PhD, and highlight his contributions to understanding and treating rare neuromuscular diseases in this special issue of the ...

Skeletal muscle is the type of muscle that controls movement. Problems with these muscles can be minor, life-threatening, or ongoing problems that make it hard to perform basic daily activities.

Facioscapulohumeral muscular dystrophy (FSHD) is a severe muscle disorder caused by aberrant DUX4 mRNA expression in skeletal muscle. DUX4 activates downstream target transcriptome, known as D4T, ...

Mitochondrial DNA (mtDNA) mutations impair OXPHOS and enhance lactate accumulation in skeletal muscle. Elevated lactate drives H3K14 histone lactylation, inducing GDF15 expression and secretion in ...

In a recent study published in Nature Communications, researchers investigate the pathophysiology of post-exertional malaise (PEM) in long coronavirus disease 2019 (COVID-19) patients, focusing on ...

Researchers have investigated the effect of increased cell temperature on the contractility of skeletal muscle and cardiac muscle by heating the muscle proteins using advanced microscopical techniques ...