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- W1974686502 abstract "Cystathionine β-synthase (CBS) is a unique heme-containing enzyme that catalyses a pyridoxal 5′-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. Deficiency of CBS leads to homocystinuria, an inherited disease of sulfur amino acid metabolism characterised by increased levels of homocysteine and methionine and decreased levels of cysteine. Presently, more than 100 CBS mutations have been described which lead to homocystinuria with different degrees of severity in the patients. We have recently solved the crystal structure of a truncated form of this enzyme, which enables us to correlate some of these mutations with the structure." @default.
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- W1974686502 date "2003-04-01" @default.
- W1974686502 modified "2023-10-11" @default.
- W1974686502 title "Structural insights into mutations of cystathionine β-synthase" @default.
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- W1974686502 doi "https://doi.org/10.1016/s1570-9639(03)00048-7" @default.
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