Barth syndrome mutations that cause tafazzin complex lability

@inproceedings{Claypool2011BarthSM,
  title={Barth syndrome mutations that cause tafazzin complex lability},
  author={Steven M Claypool and Kevin Whited and Santi Srijumnong and Xianlin Han and Carla M Koehler},
  booktitle={The Journal of cell biology},
  year={2011}
}
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… CONTINUE READING

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Four BTHS mutant tafazzins expressed at low levels are degraded by the intermembrane space AAA ( i - AAA ) protease , suggesting misfolding of the mutant polypeptides .
Four BTHS mutant tafazzins expressed at low levels are degraded by the intermembrane space AAA ( i - AAA ) protease , suggesting misfolding of the mutant polypeptides .
Four BTHS mutant tafazzins expressed at low levels are degraded by the intermembrane space AAA ( i - AAA ) protease , suggesting misfolding of the mutant polypeptides .
Its product , Taz1p , participates in the metabolism of cardiolipin , the signature phospholipid of mitochondria .
Four BTHS mutant tafazzins expressed at low levels are degraded by the intermembrane space AAA ( i - AAA ) protease , suggesting misfolding of the mutant polypeptides .
Four BTHS mutant tafazzins expressed at low levels are degraded by the intermembrane space AAA ( i - AAA ) protease , suggesting misfolding of the mutant polypeptides .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
Barth syndrome mutations that cause tafazzin complex lability .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
Thus , the loss of function for these BTHS mutants results from the inherent instability of the mutant tafazzin complexes .
Barth syndrome mutations that cause tafazzin complex lability .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
In this paper , a yeast BTHS mutant tafazzin panel is established , and 18 of the 21 tested BTHS missense mutations can not functionally replace endogenous tafazzin .
Thus , the loss of function for these BTHS mutants results from the inherent instability of the mutant tafazzin complexes .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
The X - linked disease Barth syndrome ( BTHS ) is caused by mutations in the tafazzin gene TAZ1 .
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