Biochim Biophys Acta. 2002 Dec 19;1573(3):346-55.

Hereditary multiple exostoses and heparan sulfate polymerization.

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Glycobiology Research and Training Center, Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla 92093-0687, USA.

Abstract

Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide acceptors. EXT1 and EXT2 encode the copolymerase, whereas the roles of the other EXT family members (EXTL1, L2, and L3) are less clearly defined. Here, we provide an overview of HME, the EXT family of proteins, and possible models for the relationship of altered HS biosynthesis to the ectopic bone growth characteristic of the disease.

PMID:: 12417417; [PubMed - indexed for MEDLINE]

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Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. [Am J Hum Genet. 2001]
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
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Hereditary multiple exostoses and heparan sulfate polymerization.
Hereditary multiple exostoses and heparan sulfate polymerization.
Biochim Biophys Acta. 2002 Dec 19 ;1573(3):346-55.

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Hereditary multiple exostoses and heparan sulfate polymerization.

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