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

The chondrodystrophy, nanomelia: biosynthesis and processing of the defective aggrecan precursor.

The Biochemical journal - 1 Jul 1994

Vertel B M, Grier B L, Li H, Schwartz N B

Abstract excerpt

The lethal chicken mutation nanomelia leads to severe skeletal defects because of a deficiency of aggrecan, which is the largest aggregating chondroitin sulphate proteoglycan of cartilage. In previous work, we have demonstrated that nanomelic chondrocytes produce a truncated aggrecan precursor that fails to be secreted, and is apparently arrested in the endoplasmic reticulum (ER). In this study, we investigated...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Cells, Cultured
Share to Chick Embryo

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

Share to Genes, Lethal

Share to Molecular Sequence Data

Share to Mutation

Share to Protein Biosynthesis

Share to Protein Processing, Post-Translational

Source

Open in PubMed Open full text

Identifiers

PMID: 8037674
DOI: 10.1042/bj3010211
PMCID: PMC1137164

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

The chondrodystrophy, nanomelia: biosynthesis and processing of the defective aggrecan precursor.PMID 8037674Read ↗

Nanomelic chondrocytes synthesize, but fail to translocate, a truncated aggrecan precursor.Semantic proximity Read ↗

Molecular basis of nanomelia, a heritable chondrodystrophy of chicken.Semantic proximity Read ↗

Role of the C-terminal G3 domain in sorting and secretion of aggrecan core protein and ubiquitin-mediated degradation of accumulated mutant precursors.Semantic proximity Read ↗

Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.Semantic proximity Read ↗

Disorders of intracellular protein trafficking in human disease.Semantic proximity Read ↗

The nanomelic mutation in the aggrecan gene is expressed in chick chondrocytes and neurons.Semantic proximity Read ↗

The cartilage proteoglycan deficient mutation, nanomelia, contains a DNA polymorphism in the proteoglycan core protein gene that is genetically linked to the nanomelia phenotype.Semantic proximity Read ↗

Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.Semantic proximity Read ↗

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.Semantic proximity Read ↗

COMP mutations, chondrocyte function and cartilage matrix.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 ↗

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

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