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Development of Enzyme Replacement Therapy in Mammalian Models of Barth Syndrome
Barth Syndrome (BTHS) is a devastating disorder caused by a single gene mutation in the mitochondrial transacylase, tafazzin (TAZ), which results in impaired lipid metabolism leading to dysfunction in highly energetic tissues, such as the heart and skeletal muscle. TAZ remodels, cardiolipin (CL), a multifaceted phospholipid ...