Defining functional classes of Barth syndrome mutation in humans

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 g...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4986330/
https://ncbi.nlm.nih.gov/pubmed/26908608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw046
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