Article
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins.
The Journal of cell biology - 31 Jul 2006
Claypool Steven M, McCaffery J Michael, Koehler Carla M
Abstract excerpt
None of the 28 identified point mutations in tafazzin (Taz1p), which is the mutant gene product associated with Barth syndrome (BTHS), has a biochemical explanation. In this study, endogenous Taz1p was localized to mitochondria in association with both the inner and outer mitochondrial membranes facing the intermembrane space (IMS). Unexpectedly, Taz1p does not contain transmembrane (TM) segments. Instead, Taz1p...
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