Article
The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin-deficient cells.
Journal of inherited metabolic disease - 1 Jan 2022
Oemer Gregor, Koch Jakob, Wohlfarter Yvonne, Lackner Katharina, Gebert Rita E M, Geley Stephan, Zschocke Johannes, Keller Markus A
Abstract excerpt
Deficiency of the transacylase tafazzin due to loss of function variants in the X-chromosomal TAFAZZIN gene causes Barth syndrome (BTHS) with severe neonatal or infantile cardiomyopathy, neutropenia, myopathy, and short stature. The condition is characterized by drastic changes in the composition of cardiolipins, a mitochondria-specific class of phospholipids. Studies examining the impact of tafazzin deficiency...
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