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• W2023211927 endingPage "25" @default.
• W2023211927 startingPage "16" @default.
• W2023211927 abstract "omocysteine, a sulfur-containing amino acid, is a demethylated product of methionine. Once formed, homocysteine can be irreversibly transsulfurated to form cystathionine and cysteine or remethylated to form methionine (Fig 1).1-3 CBS (EC 4.2.1.22), which contains PLP, is a key enzyme in the transsulfuration pathway. CBS catalyzes the condensation of homocysteine with serine to form cystathionine, which is then cleaved by γ-cystathionase (EC 4.4.1.1), another PLP-containing enzyme, to form cysteine and α-ketobutyrate.2 In the remethylation pathway, homocysteine can be methylated to methionine by the B12dependent enzyme MS (EC 2.1.1.13) or by the enzyme BHMT (EC 2.1.1.5).2 The reaction catalyzed by BHMT takes place primarily in the liver and uses betaine as the methyl donor. In contrast, the B12-dependent MS enzyme is ubiquitously present in all tissues and uses 5-methytetrahydrofolate as a methyl donor. Because 5methytetrahydrofolate is formed from 5,10-methylenetetrahydrofolate through the action of the enzyme MTHFR (EC 1.5.1.20), the activity of MTHFR is also an important determinant of plasma homocysteine concentration. Severe deficiencies in any one of these three enzymes can lead to homocystinuria, a rare inborn error of metabolism characterized by highly elevated blood and urine homocysteine levels. In the last few years all three genes have been cloned, and both severe and mild mutations have been found in all three genes. Most recently, another enzyme—MS reductase—has been isolated and characterized by Leclerc et al.4 MS reductase restores the MS activity by reductive methylation of cob(II)alalmin.5 Three patients with homocystinuria have been found to have defective MS reductase.4 Further studies are needed to determine whether this enzyme plays a role in the pathogeneses of moderate hyperhomocysteinemia." @default.
• W2023211927 created "2016-06-24" @default.
• W2023211927 creator A5073734270 @default.
• W2023211927 date "2000-01-01" @default.
• W2023211927 modified "2023-09-25" @default.
• W2023211927 title "Moderate hyperhomocysteinemia and cardiovascular disease" @default.
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• W2023211927 doi "https://doi.org/10.1016/s0022-2143(00)70016-3" @default.
• W2023211927 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10638690" @default.
• W2023211927 hasPublicationYear "2000" @default.

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