Article
Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome.
Journal of molecular and cellular cardiology - 1 Aug 2018
Johnson Jordan M, Ferrara Patrick J, Verkerke Anthony R P, Coleman Chanel B, Wentzler Edward J, Neufer P Darrell, Kew Kimberly A, de Castro Brás Lisandra E, Funai Katsuhiko
Abstract excerpt
Barth Syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy and muscle weakness. The underlying cause of BTHS is a mutation in the tafazzin (TAZ) gene, a key enzyme of cardiolipin biosynthesis. The lack of CL arising from loss of TAZ function results in destabilization of the electron transport system, promoting oxidative stress that is thought to contribute to development of...
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