Article
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
Human molecular genetics - 15 Apr 2016
Potelle Sven, Morelle Willy, Dulary Eudoxie, Duvet Sandrine, Vicogne Dorothée, Spriet Corentin, Krzewinski-Recchi Marie-Ange, Morsomme Pierre, Jaeken Jaak, Matthijs Gert, De Bettignies Geoffroy, Foulquier François
Abstract excerpt
Congenital disorders of glycosylation (CDG) are severe inherited diseases in which aberrant protein glycosylation is a hallmark. From this genetically and clinically heterogenous group, a significant subgroup due to Golgi homeostasis defects is emerging. We previously identified TMEM165 as a Golgi protein involved in CDG. Extremely conserved in the eukaryotic reign, the molecular mechanism by which TMEM165...
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