Publications
Thématiques
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Life science alliance - 01 janvier 2023
Duchenne muscular dystrophy (DMD) is a severe muscle disease caused by impaired expression of dystrophin. Whereas mitochondrial dysfunction is thought to play an important role in DMD, the mechanism of this dysfunction remains to be clarified. Here we demonstrate that in DMD and other muscular dy...
Acta neuropathologica - 01 octobre 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscular junction formation and maintenance. Among them, AGRN encodes agrin, an essential synaptic protein secreted by m...
Journal of medicinal chemistry - 08 septembre 2022
The voltage-dependent anion channel (VDAC), the most abundant protein on the outer mitochondrial membrane, is implicated in ATP, ion and metabolite exchange with cell compartments. In particular, the VDAC participates in cytoplasmic and mitochondrial Ca homeostasis. Notably, the Ca efflux out of ...