Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.

@article{Gupta2009MouseMO,
  title={Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.},
  author={Sapna Satish Gupta and Jirko K{\"u}hnisch and Aladdin Mustafa and {\vS}{\'a}rka Lhot{\'a}k and Alexander Schlachterman and Michael J. Slifker and Andres J. P. Klein-Szanto and K. A. High and Richard C Austin and Warren D Kruger},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2009},
  volume={23 3},
  pages={
          883-93
        }
}
Untreated cystathionine beta-synthase (CBS) deficiency in humans is characterized by extremely elevated plasma total homocysteine (tHcy>200 microM), with thrombosis as the major cause of morbidity. Treatment with vitamins and diet leads to a dramatic reduction in thrombotic events, even though patients often still have severe elevations in tHcy (>80 microM). To understand the difference between extreme and severe hyperhomocysteinemia, we have examined two mouse models of CBS deficiency: Tg-hCBS… CONTINUE READING
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