Ontology highlight
ABSTRACT:
SUBMITTER: Ng BG
PROVIDER: S-EPMC6739144 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Ng Bobby G BG Lourenço Charles M CM Losfeld Marie-Estelle ME Buckingham Kati J KJ Kircher Martin M Nickerson Deborah A DA Shendure Jay J Bamshad Michael J MJ Freeze Hudson H HH
Journal of inherited metabolic disease 20190416 5
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 cause a group of rare genetic disorders termed, congenital disorders of glycosylation (CDG). We report an individual who presented with severe intellectual and developmental disabilities and sensorineural d ...[more]