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Author

Vincent Procaccio

2 papers indexed here

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Open access Oct 2026

Ebselen restores mitochondrial function through metabolic rewiring in Barth syndrome and related mitochondrial diseases.

Despite major advances in the genetic diagnosis of mitochondrial disorders, effective disease-modifying therapies remain scarce. Here, we identify ebselen (EBS) as a promising therapeutic candidate through a phenotypic drug screen in a yeast model of Barth syndrome, a cardiomyopathy caused by defective cardiolipin matu...

Claire Almyre, Anne-Louise Cayer, Nolwenn Bounaix et al. · 0 citations
Open access Aug 2026

Neonatal mitochondrial encephalopathy due to a splice-altering variant in COX16

Two siblings born to consanguineous parents who presented with neonatal hypotonia, respiratory failure, lactic acidosis and early death are described, establishing the pathogenicity of a splice-altering COX16 variant and expanding the genetic and phenotypic spectrum of COX16 -related mitochondrial disease.

Nicolas Geoffre, N. Gueguen, Anne-Sophie Guémann et al. · 0 citations

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