Ontology highlight
ABSTRACT:
SUBMITTER: Claypool SM
PROVIDER: S-EPMC3101092 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Claypool Steven M SM Whited Kevin K Srijumnong Santi S Han Xianlin X Koehler Carla M CM
The Journal of cell biology 20110201 3
Deficits in mitochondrial function result in many human diseases. The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1. Its product, Taz1p, participates in the metabolism of cardiolipin, the signature phospholipid of mitochondria. In this paper, a yeast BTHS mutant tafazzin panel is established, and 18 of the 21 tested BTHS missense mutations cannot functionally replace endogenous tafazzin. Four BTHS mutant tafazzins expressed at low levels are degraded by ...[more]