Reposted by Jean Jacobs
Nature research paper: A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
go.nature.com/45Eb8te
go.nature.com
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia - Nature
In mammals, the enzyme TGDS produces UDP-4-keto-6-deoxyglucose, which binds to the catalytic pocket of UDP-xylose synthase, thereby regenerating the essential NAD+ cofactor of UDP-xylose synthase in conditions of low NAD+.
