Muscular dystrophies are a heterogeneous group of inherited disorders that share similar
clinical features and dystrophic changes on muscle biopsy. An improved understanding of …

Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

Mitochondrial quality control is essential in highly structured cells such as neurons and
muscles. In skeletal muscle the mitochondrial fission proteins are reduced in different …

The ubiquitin-proteasome and autophagy-lysosome pathways are the two major routes for
protein and organelle clearance. In skeletal muscle, both systems are under FoxO regulation …

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Mitochondrial dysfunction has been linked to a wide range of degenerative and metabolic
diseases, cancer, and aging. All these clinical manifestations arise from the central role of …

Autophagy is crucial in the turnover of cell components, and clearance of damaged
organelles by the autophagic-lysosomal pathway is essential for tissue homeostasis …

Current research on the mitochondrial permeability transition pore (PTP) and its role in cell
death faces a paradox. Initially considered as an in vitro artifact of little pathophysiological …

Mitochondrial permeability transition (MPT) is the sudden loss in the permeability of the
inner mitochondrial membrane (IMM) to low-molecular-weight solutes. Due to osmotic …

The collagen VI-related myopathy known as Ullrich congenital muscular dystrophy is an
early-onset disease that combines substantial muscle weakness with striking joint laxity and …