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Two enzymes in the transsulfuration pathway of homocysteine —cystathionine beta-synthase (CBS) and gamma-cystathionase (CTH)—use cysteine and/or homocysteine to produce the important signaling molecule hydrogen sulfide (H2S) and simultaneously the thioethers lanthionine, cystathionine or homolanthionine. In this study we explored whether impaired flux of substrates for H2S synthesis and/or deficient...
Classical homocystinuria is caused by mutations in the cystathionine β-synthase ( CBS ) gene. Previous experiments in bacterial and yeast cells showed that many mutant CBS enzymes misfold and that chemical chaperones enable proper folding of a number of mutations. In the present study, we tested the extent of misfolding of 27 CBS mutations previously tested in E. coli ...
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