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Advanced filters: Author: Wiebke Hülsemann Clear advanced filters

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

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⁺.

Jean Jacobs
Hristiana Lyubenova
Guido T. Bommer
ResearchOpen Access20 Aug 2025
Nature

Volume: 646, P: 218-226
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Frameshift mutations that create arginine-rich basic tails in transcription factors and other proteins can lead to altered phase separation in the nucleolus, which in turn leads to syndromes such as brachyphalangy, polydactyly and tibial aplasia.

Martin A. Mensah
Henri Niskanen
Denes Hnisz
ResearchOpen Access08 Feb 2023
Nature

Volume: 614, P: 564-571
Noncoding copy-number variations are associated with congenital limb malformation

Ricarda Flöttmann
Bjørt K Kragesteen
Malte Spielmann
Research12 Oct 2017
Genetics in Medicine

Volume: 20, P: 599-607