Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice

@article{Gupta2008CystathionineP,
  title={Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice},
  author={Sapna Satish Gupta and Liqun Rejean Wang and Xiang Wei Hua and Jakub Krijt and Viktor Ko{\vz}ich and Warren D Kruger},
  journal={Human Mutation},
  year={2008},
  volume={29},
  pages={1048 - 1054}
}
Missense mutations in the cystathionine beta-synthase (CBS) gene are the most common cause of clinical homocystinuria in humans. The p.S466L mutation was identified in a homocystinuric patient, but enzymatic studies with recombinant protein show this mutant to be highly active. To understand how this mutation causes disease in vivo, we have created mice lacking endogenous mouse CBS and expressing either wild-type (Tg-hCBS) or p.S466L (Tg-S466L) human CBS under control of zinc inducible… CONTINUE READING
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Citations

Publications citing this paper.
SHOWING 1-10 OF 11 CITATIONS

Lack of global epigenetic methylation defects in CBS deficient mice

  • Journal of Inherited Metabolic Disease
  • 2016
VIEW 2 EXCERPTS
CITES METHODS & BACKGROUND

Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice.

  • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 2009
VIEW 2 EXCERPTS
CITES METHODS

References

Publications referenced by this paper.
SHOWING 1-10 OF 17 REFERENCES

The role of cystathionine beta-synthase in homocysteine metabolism

KH Jhee, Kruger WD.
  • Antioxid Redox Signal 7:813–822.
  • 2005

Disorders in transsulfuration

SH Mudd, HL Levy, JP. Kraus
  • In: Scriver CR, Beaudet A, Sly W, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill. p 2007–2056.
  • 2001
VIEW 2 EXCERPTS

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis

X Shan, Dunbrack RL, SA Christopher, Kruger WD.
  • Hum Mol Genet 10: 635–643.
  • 2001
VIEW 2 EXCERPTS

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