CORDIS Project
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This project focuses on SEPN1-related myopathy, a rare genetic muscle disorder. It aims to develop high-throughput models using patient-derived cells to identify potential drug treatments and restore cellular energy functions affected by SEPN1 mutations.
SEPN1-related myopathy (SEPN1-RM) is a rare, untreatable debilitating congenital myopathy in which SEPN1 mutations impair the antioxidant system, ER stress protection and mitochondrial oxidative function.
These altered cellular processes ultimately lead to a significant loss of bioenergetic production and abrogate muscle cellular functions. SEPN1-RM patients experience potentially-lethal respiratory failure and major life burden due to loss of mobility.
Currently, there are no high-throughput o…
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