Ontology highlight
ABSTRACT:
SUBMITTER: Foulquier F
PROVIDER: S-EPMC1450151 | biostudies-literature | 2006 Mar
REPOSITORIES: biostudies-literature
Foulquier François F Vasile Eliza E Schollen Els E Callewaert Nico N Raemaekers Tim T Quelhas Dulce D Jaeken Jaak J Mills Philippa P Winchester Bryan B Krieger Monty M Annaert Wim W Matthijs Gert G
Proceedings of the National Academy of Sciences of the United States of America 20060228 10
The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of glycosylation type II (CDG-II) that is caused by a deficiency in the Cog1 subunit of the complex. This patient has a defect in both N- and O-glycosylation. Mass spectrometric analysis of the structures of the N-linked glycans released from glycoproteins ...[more]