Article
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Human genetics - 1 Jan 2014
Schreml Julia, Durmaz Burak, Cogulu Ozgur, Keupp Katharina, Beleggia Filippo, Pohl Esther, Milz Esther, Coker Mahmut, Ucar Sema Kalkan, Nürnberg Gudrun, Nürnberg Peter, Kuhn Joachim, Ozkinay Ferda
Abstract excerpt
Proteoglycan (PG) synthesis begins with the sequential addition of a "linker chain", made up of four sugar residues, to a specific region of a core protein. Defects in the enzymes catalyzing steps two to four of the linker chain synthesis have been shown to cause autosomal recessive human phenotypes while no mutation has yet been reported in humans for the xylosyltransferases 1 and 2 (XT1 and XT2), the initiating...
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