Article
Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains.
The Journal of biological chemistry - 30 Jul 2004
Yamada Shuhei, Busse Marta, Ueno Momoyo, Kelly Olivia G, Skarnes William C, Sugahara Kazuyuki, Kusche-Gullberg Marion
Abstract excerpt
Mutational defects in either EXT1 or EXT2 genes cause multiple exostoses, an autosomal hereditary human disorder. The EXT1 and EXT2 genes encode glycosyltransferases that play an essential role in heparan sulfate chain elongation. In this study, we have analyzed heparan sulfate synthesized by primary fibroblast cell cultures established from mice with a gene trap mutation in Ext1. The gene trap mutation results...
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