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Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

Archive ouverte | Filipe, Anne | CCSD

International audience. SEPN1-related myopathy (SEPN1-RM) is a muscle disorder due to mutations of the SEPN1 gene, which is characterized by muscle weakness and fatigue leading to scoliosis and life-threatening resp...

SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance

Archive ouverte | Varone, Ersilia | CCSD

International audience. Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy). The exact...

Chemical chaperones in metabolic fitness beyond protein folding

Archive ouverte | Zito, Ester | CCSD

International audience. Chemical chaperones are small molecules that improve protein folding, alleviating aberrant pathological phenotypes due to protein misfolding. Recent reports suggest that, in parallel with the...

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