Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary multiple exostoses and heparan sulfate polymerization.

Biochimica et biophysica acta - 19 Dec 2002

Zak Beverly M, Crawford Brett E, Esko Jeffrey D

Abstract excerpt

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)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to N-Acetylglucosaminyltransferases
Share to Exostoses, Multiple Hereditary
Share to Exostosin 1

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exostosin 2

Share to Fibroblast Growth Factors

Share to Heparitin Sulfate

Share to Polymers

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 12417417
DOI: 10.1016/s0304-4165(02)00402-6

Genes

EXT1
EXT2
EXTL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary multiple exostoses and heparan sulfate polymerization.PMID 12417417Read ↗

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Semantic proximity Read ↗

The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.Semantic proximity Read ↗

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfateSemantic proximity Read ↗

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

Heparan sulfate in skeletal development, growth, and pathology: The case of hereditary multiple exostosesSemantic proximity Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

Heparan Sulphate Biosynthesis and DiseaseSemantic proximity Read ↗

Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.Semantic proximity Read ↗

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic patternSemantic proximity Read ↗

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.Semantic proximity Read ↗

Mice deficient in Ext2 lack heparan sulfate and develop exostosesSemantic proximity Read ↗

Heparan sulfate abnormalities in exostosis growth plates.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.