Ontology highlight
ABSTRACT:
SUBMITTER: Sadat MA
PROVIDER: S-EPMC4066413 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Sadat Mohammed A MA Moir Susan S Chun Tae-Wook TW Lusso Paolo P Kaplan Gerardo G Wolfe Lynne L Memoli Matthew J MJ He Miao M Vega Hugo H Kim Leo J Y LJY Huang Yan Y Hussein Nadia N Nievas Elma E Mitchell Raquel R Garofalo Mary M Louie Aaron A Ireland Derek C DC Grunes Claire C Cimbro Raffaello R Patel Vyomesh V Holzapfel Genevieve G Salahuddin Daniel D Bristol Tyler T Adams David D Marciano Beatriz E BE Hegde Madhuri M Li Yuxing Y Calvo Katherine R KR Stoddard Jennifer J Justement J Shawn JS Jacques Jerome J Priel Debra A Long DAL Murray Danielle D Sun Peter P Kuhns Douglas B DB Boerkoel Cornelius F CF Chiorini John A JA Di Pasquale Giovanni G Verthelyi Daniela D Rosenzweig Sergio D SD
The New England journal of medicine 20140409 17
Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple neurologic complications and a paradoxical immunologic phenotype characterized by severe h ...[more]