2024
Endoplasmic reticulum exit sites are segregated for secretion based on cargo size
Saxena S, Foresti O, Liu A, Androulaki S, Pena Rodriguez M, Raote I, Aridor M, Cui B, Malhotra V. Endoplasmic reticulum exit sites are segregated for secretion based on cargo size. Developmental Cell 2024, 59: 2593-2608.e6. PMID: 38991587, PMCID: PMC11813558, DOI: 10.1016/j.devcel.2024.06.009.Peer-Reviewed Original ResearchEndoplasmic reticulum exit sitesProline-rich domainC-terminal proline-rich domainCOPII assemblyExit siteER membraneCargo exportJuxtanuclear regionU2OS cellsCargo moleculesBulky cargoSEC23AOptimal secretionCollagen VIIHuman osteosarcomaProlonged bindingComplex organismsCargoCargo sizeBindingCollagen ICTAGE5TANGO1COPIIERGIC53
2006
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nature Genetics 2006, 38: 1192-1197. PMID: 16980979, DOI: 10.1038/ng1876.Peer-Reviewed Original ResearchConceptsSutural dysplasiaSecretory proteinsEndoplasmic reticulumPositional cloning approachEndoplasmic reticulum exportCell-free vesiclesAmino acid substitutionsGolgi traffickingZebrafish embryosCloning approachGolgi complexCytoplasmic mislocalizationAcid substitutionsSkeletal defectsProteinReticulumVesiclesSutural cataractEssential componentFacial dysmorphismAutosomal recessive syndromeCOPIISEC23AMorpholinoSec31
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