Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …

Collagen VI exerts several functions in the tissues in which it is expressed, including
mechanical roles, cytoprotective functions with the inhibition of apoptosis and oxidative …

Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and
collagens are a key component required for BM function. While collagen IV is the major BM …

Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (ie they are no
longer able to divide) and perform muscle contraction. They are formed by fusion of muscle …

Skeletal muscle fibers possess, like all cells of our body, an evolutionary conserved
autophagy machinery, which allows them to segregate unfolded proteins and damaged …

Beside inherited muscle diseases many catabolic conditions such as insulin resistance,
malnutrition, cancer growth, aging, infections, chronic inflammatory status, inactivity, obesity …

Apoptosis and autophagy are processes resulting from the integration of cellular stress and
death signals. Their individual importance is highlighted by the lethality of various mouse …

White adipose tissue (WAT) is a highly adaptive endocrine organ that continuously remodels
in response to nutritional cues. WAT expands to store excess energy by increasing …

The catabolic process of macroautophagy, through the rapid degradation of unwanted
cellular components, is involved in a multitude of cellular and organismal functions that are …

The integrity and preservation of the neuromuscular junction (NMJ), the interface between
the motor neuron and skeletal muscle, is critical for maintaining a healthy skeletal muscle …