Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p13 | (1) | ICCBH2015

Galactosyltransferase-1 deficiency: a novel cause of bone fragility due to impaired proteoglycan synthesis

Moon Rebecca , Salter Claire , Foulds Nicola , Davies Justin

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...