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Article

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

Developmental cell - 1 Nov 2007

Fromme J Christopher, Ravazzola Mariella, Hamamoto Susan, Al-Balwi Mohammed, Eyaid Wafaa, Boyadjiev Simeon A, Cosson Pierre, Schekman Randy, Orci Lelio

Abstract excerpt

Proteins trafficking through the secretory pathway must first exit the endoplasmic reticulum (ER) through membrane vesicles created and regulated by the COPII coat protein complex. Cranio-lenticulo-sutural dysplasia (CLSD) was recently shown to be caused by a missense mutation in SEC23A, a gene encoding one of two paralogous COPII coat proteins. We now elucidate the molecular mechanism underlying this disease. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17981132
DOI: 10.1016/j.devcel.2007.10.005
PMCID: PMC2262049

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.PMID 17981132Read ↗

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 ↗

Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.Semantic proximity Read ↗

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

Assembly, organization, and function of the COPII coatSemantic proximity Read ↗

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.Semantic proximity Read ↗

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

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

The Function of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable <i>In Vivo</i>Semantic proximity Read ↗

Sec23IP recruits the Cohen syndrome factor VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formationSemantic proximity Read ↗

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.Semantic proximity Read ↗

SEC31A mutation affects ER homeostasis, causing a neurological syndromeSemantic proximity Read ↗

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