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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