Genomics & Genetics Weekly
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Enzyme Research
Research from H. Jakubowski and co-authors in the area of enzyme research published
February 6th, 2009
"Severely elevated plasma homocysteine (Hcy) levels observed in genetic disorders of Hcy metabolism are associated with pathologies in multiple organs and lead to premature death due to vascular complications. In addition to elevating plasma Hcy, mutations in cystathionine beta-synthase (CBS) or methylenetetrahydrofolate reductase (MTHFR) gene lead to markedly elevated levels of circulating Hcy-thiolactone," investigators in the United States report. "The thiooester chemistry of Hcy-thiolactone underlies its ability to form isopeptide bonds with protein lysine residues (N-Hcy-protein), which may impair or alter the protein's function. However, it was not known whether...
Source: Genomics & Genetics Weekly (2009-02-06)
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