title: Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
abstract: Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.
authors: Department of Glycobiology and Carbohydrate Chemistry, Burnham Institute for Medical Research, La Jolla, CA 92037, USA.
authors: Bobby G
authors: BG
authors: Ng
authors: Christian
authors: C
authors: Kranz
authors: E E O
authors: EE
authors: Hagebeuk
authors: M
authors: M
authors: Duran
authors: N G G M
authors: NG
authors: Abeling
authors: B
authors: B
authors: Wuyts
authors: Daniel
authors: D
authors: Ungar
authors: Vladimir
authors: V
authors: Lupashin
authors: C M
authors: CM
authors: Hartdorff
authors: B T
authors: BT
authors: Poll-The
authors: Hudson H
authors: HH
authors: Freeze
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000172:deficiency* / Q000235:genetics*; D001692:Biological Transport; D020126:Brefeldin A / Q000494:pharmacology; D003241:Consanguinity; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D009018:Morocco / Q000208:ethnology; D019158:N-Acetylneuraminic Acid / Q000378:metabolism; D011134:Polysaccharides / Q000378:metabolism
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; C512294:COG7 protein, human; D011134:Polysaccharides; D020126:Brefeldin A; D019158:N-Acetylneuraminic Acid