Correction of disease-causing CBS mutations in yeast.

  title={Correction of disease-causing CBS mutations in yeast.},
  author={Xiangnian Shan and Warren D Kruger},
  journal={Nature genetics},
  volume={19 1},
Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma. The primary cause of mortality is thromboembolism induced by the excessive tHcy levels. Mild increases in tHcy levels are a significant risk factor in the development of vascular disease in the general population. This can result from heterozygosity at the CBS locus or polymorphic variation in other enzymes involved in… CONTINUE READING