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Article

COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.

Journal of cellular biochemistry - 15 Feb 2008

Chen Tung-Ling L, Posey Karen L, Hecht Jacqueline T, Vertel Barbara M

Abstract excerpt

Mutations in cartilage oligomeric matrix protein (COMP) produce clinical phenotypes ranging from the severe end of the spectrum, pseudoachondroplasia (PSACH), which is a dwarfing condition, to a mild condition, multiple epiphyseal dysplasia (MED). Patient chondrocytes have a unique morphology characterized by distended rER cisternae containing lamellar deposits of COMP and other extracellular matrix proteins. It...

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Source

Identifiers

PMID: 17570134
DOI: 10.1002/jcb.21445

Genes

COMP

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

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Click a neighbor to travelStep 1 · 12 closest

COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.PMID 17570134Read ↗

Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH.Semantic proximity Read ↗

Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.Semantic proximity Read ↗

COMP mutations, chondrocyte function and cartilage matrix.Semantic proximity Read ↗

Role of TSP-5/COMP in pseudoachondroplasia.Semantic proximity Read ↗

Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion.Semantic proximity Read ↗

Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.Semantic proximity Read ↗

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia.Semantic proximity Read ↗

An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.Semantic proximity Read ↗

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP.Semantic proximity Read ↗

Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues.Semantic proximity Read ↗

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.Semantic proximity Read ↗

A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis.Semantic proximity Read ↗

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