Article
Interplay between cardiolipin and plasmalogens in Barth syndrome.
Journal of inherited metabolic disease - 1 Jan 2022
Bozelli José Carlos, Epand Richard M
Abstract excerpt
Barth syndrome (BTHS) is a rare inherited metabolic disease resulting from mutations in the gene of the enzyme tafazzin, which catalyzes the acyl chain remodeling of the mitochondrial-specific lipid cardiolipin (CL). Tissue samples of individuals with BTHS present abnormalities in the level and the molecular species of CL. In addition, in tissues of a tafazzin knockdown mouse as well as in cells derived from BTHS...
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