Article
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Human molecular genetics - 15 Oct 2018
Van Damme Tim, Pang Xiaomeng, Guillemyn Brecht, Gulberti Sandrine, Syx Delfien, De Rycke Riet, Kaye Olivier, de Die-Smulders Christine E M, Pfundt Rolph, Kariminejad Ariana, Nampoothiri Sheela, Pierquin Geneviève, Bulk Saskia, Larson Austin A, Chatfield Kathryn C, Simon Marleen, Legrand Anne, Gerard Marion, Symoens Sofie, Fournel-Gigleux Sylvie, Malfait Fransiska
Abstract excerpt
Proteoglycans are among the most abundant and structurally complex biomacromolecules and play critical roles in connective tissues. They are composed of a core protein onto which glycosaminoglycan (GAG) side chains are attached via a linker region. Biallelic mutations in B3GALT6, encoding one of the linker region glycosyltransferases, are known to cause either spondyloepimetaphyseal dysplasia (SEMD) or a severe...
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