Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12091
Abstract: The translocon‐associated protein (TRAP) complex facilitates the translocation of proteins across the endoplasmic reticulum membrane and associates with the oligosaccharyl transferase (OST) complex to maintain proper glycosylation of nascent polypeptides. Pathogenic variants in either complex… read more here.
Keywords: associated protein; ssr3 cause; cause; glycosylation ... See more keywords
1783-P: Translocon-Associated Protein Alpha (TRAPα) Is Required for Insulin Biosynthesis in ß Cells
Sign Up to like & getrecommendations! Published in 2019 at "Diabetes"
DOI: 10.2337/db19-1783-p
Abstract: The discovery of missense mutations in the signal peptide of preproinsulin that causes congenital diabetes highlights the critical role of ER translocation in insulin biosynthesis. However, the mechanisms that govern these early events in insulin… read more here.
Keywords: protein alpha; insulin biosynthesis; trap; translocon associated ... See more keywords