{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lu CL"],"funding":["National Institutes of Health","NIGMS NIH HHS"],"pagination":["81-93"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8692420"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(1)"],"pubmed_abstract":["SEC24 is mainly involved in cargo sorting during COPII vesicle assembly. There are four SEC24 paralogs (A-D) in vertebrates, which are classified into two subgroups (SEC24A/B and SEC24C/D). Pathological mutations in SEC24D cause osteogenesis imperfecta with craniofacial dysplasia in humans. sec24d mutant fish also recapitulate the phenotypes. Consistent with the skeletal phenotypes, the secretion of collagen was severely defective in mutant fish, emphasizing the importance of SEC24D in collagen secretion. However, SEC24D patient-derived fibroblasts show only a mild secretion phenotype, suggesting tissue-specificity in the secretion process. Using Sec24d KO mice and cultured cells, we show that SEC24A and SEC24B also contribute to endoplasmic reticulum (ER) export of procollagen. In contras"],"journal":["Traffic (Copenhagen, Denmark)"],"pubmed_title":["Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum."],"pmcid":["PMC8692420"],"funding_grant_id":["P20GM103620, P20GM103548, R01GM110373","P20 GM103548","P20 GM103620","R01 GM110373"],"pubmed_authors":["Cain J","Ortmeier S","Lu CL","Brudvig J","Moretti T","Boyadjiev SA","Kim J","Weimer JM"],"additional_accession":[]},"is_claimable":false,"name":"Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum.","description":"SEC24 is mainly involved in cargo sorting during COPII vesicle assembly. There are four SEC24 paralogs (A-D) in vertebrates, which are classified into two subgroups (SEC24A/B and SEC24C/D). Pathological mutations in SEC24D cause osteogenesis imperfecta with craniofacial dysplasia in humans. sec24d mutant fish also recapitulate the phenotypes. Consistent with the skeletal phenotypes, the secretion of collagen was severely defective in mutant fish, emphasizing the importance of SEC24D in collagen secretion. However, SEC24D patient-derived fibroblasts show only a mild secretion phenotype, suggesting tissue-specificity in the secretion process. Using Sec24d KO mice and cultured cells, we show that SEC24A and SEC24B also contribute to endoplasmic reticulum (ER) export of procollagen. In contras","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2026-05-08T02:07:26.712Z","creation":"2025-02-18T22:34:35.62Z"},"accession":"S-EPMC8692420","cross_references":{"pubmed":["34761479"],"doi":["10.1111/tra.12826"]}}