Article
A glycogene mutation map for discovery of diseases of glycosylation.
Glycobiology - 1 Feb 2015
Hansen Lars, Lind-Thomsen Allan, Joshi Hiren J, Pedersen Nis Borbye, Have Christian Theil, Kong Yun, Wang Shengjun, Sparso Thomas, Grarup Niels, Vester-Christensen Malene Bech, Schjoldager Katrine, Freeze Hudson H, Hansen Torben, Pedersen Oluf, Henrissat Bernard, Mandel Ulla, Clausen Henrik, Wandall Hans H, Bennett Eric P
Abstract excerpt
Glycosylation of proteins and lipids involves over 200 known glycosyltransferases (GTs), and deleterious defects in many of the genes encoding these enzymes cause disorders collectively classified as congenital disorders of glycosylation (CDGs). Most known CDGs are caused by defects in glycogenes that affect glycosylation globally. Many GTs are members of homologous isoenzyme families and deficiencies in...
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