Ontology highlight
ABSTRACT:
SUBMITTER: Fromme JC
PROVIDER: S-EPMC2262049 | biostudies-literature | 2007 Nov
REPOSITORIES: biostudies-literature
Fromme J Christopher JC Ravazzola Mariella M Hamamoto Susan S Al-Balwi Mohammed M Eyaid Wafaa W Boyadjiev Simeon A SA Cosson Pierre P Schekman Randy R Orci Lelio L
Developmental cell 20071101 5
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 vitro assays reveal that the mutant form of SEC23A poorly recruits the Sec13-Sec31 ...[more]