Article
A monoallelic UXS1 variant associated with short-limbed short stature.
Molecular genetics & genomic medicine - 1 Jun 2024
Rustad Cecilie F, Backe Paul Hoff, Jin Chunsheng, Merckoll Else, Tveten Kristian, Maciej-Hulme Marissa Lucy, Karlsson Niclas, Prescott Trine, Sand Elise Sandås, Woldseth Berit, Elgstøen Katja Benedikte Prestø, Holla Øystein L
Abstract excerpt
BACKGROUND: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP-glucuronate decarboxylase 1, which catalyzes synthesis of UDP-xylose, the donor of the first building block in the linker. Defects in other enzymes involved in formation of the tetrasaccharide linker cause so-called linkeropathies,...
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