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Article

Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.

Nature genetics - 1 Oct 2006

Lang Michael R, Lapierre Lynne A, Frotscher Michael, Goldenring James R, Knapik Ela W

Abstract excerpt

An increasing number of human disorders have been linked to mutations in genes of the secretory pathway. The chemically induced zebrafish crusher variant results in malformed craniofacial skeleton, kinked pectoral fins and a short body length. By positional cloning, we identified a nonsense mutat...

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Share to Cartilage
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16980978
DOI: 10.1038/ng1880

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16980978-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.PMID 16980978Read ↗

Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal MorphogenesisSemantic proximity Read ↗

The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis.Semantic proximity Read ↗

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.Semantic proximity Read ↗

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.Semantic proximity Read ↗

Dynamic Glycosylation Governs the Vertebrate COPII Protein Trafficking PathwaySemantic proximity Read ↗

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.Semantic proximity Read ↗

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.Semantic proximity Read ↗

Sec13 safeguards the integrity of the endoplasmic reticulum and organogenesis of the digestive system in zebrafish.Semantic proximity Read ↗

Regulated extracellular matrix trafficking shapes cell growth during cartilage morphogenesisSemantic proximity Read ↗

Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.Semantic proximity Read ↗

Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum.Semantic proximity Read ↗

The Sec domain protein Scfd1 facilitates trafficking of ECM components during chondrogenesis.Semantic proximity Read ↗

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