Article
Defining functional classes of Barth syndrome mutation in humans.
Human molecular genetics - 1 May 2016
Lu Ya-Wen, Galbraith Laura, Herndon Jenny D, Lu Ya-Lin, Pras-Raves Mia, Vervaart Martin, Van Kampen Antoine, Luyf Angela, Koehler Carla M, McCaffery J Michael, Gottlieb Eyal, Vaz Frederic M, Claypool Steven M
Abstract excerpt
The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin. To date, a detailed characterization of endogenous TAZ has only been performed in yeast. Further, why a given BTHS-associated missense mutation impairs TAZ function has only been determined in a yeast model of this human...
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