Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

@article{Wang2005ExpressionOM,
  title={Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.},
  author={Liqun Rejean Wang and Xulin Chen and Baiqing Tang and Xiang Wei Hua and Andr{\'e}s J. P. Klein-Szanto and Warren D. Kruger},
  journal={Human molecular genetics},
  year={2005},
  volume={14 15},
  pages={
          2201-8
        }
}
Cystathionine beta-synthase (CBS) deficiency is a recessive genetic disorder in humans characterized by elevated levels of total plasma homocysteine (tHcy) and frequent thrombosis in humans. The I278T mutation is the most common mutation found in human CBS-deficient patients. The T424N mutation was identified as a mutation in human CBS that could restore function to I278T in Saccharomyces cerevisiae. In this report, we have engineered mice that express human I278T and I278T/T424N proteins from… CONTINUE READING
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