A missing enzyme-rescue metabolite as cause of a rare skeletal...

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A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

Nature, Published online: 20 August 2025; doi:10.1038/s41586-025-09397-xIn 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+.

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