Insights into Golgi stress response from a new glycosylation disorder

Congenital Disorders of Glycosylation (CDG) are a group of genetic diseases, due to deficient protein and lipid glycosylation. Our group recently identified MAN1B1-deficiency as a frequent type of CDG associated with impaired Golgi glycosylation, intellectual disability and obesity. It was demonstrated that MAN1B1 is Golgi-localized, and may have a gatekeeping role to retrieve escaped misfolded glycoproteins back to the ER for degradation. We hypothesize that MAN1B1-deficiency would lead to an accumulation of escaped misfolded proteins in the Golgi, overwhelming its capacity. In preliminary results, we showed that Golgi trafficking and morphology are impaired MAN1B1-depleted cells.

Keywords:N-glycosylation, congenital disorder of glycosylation Gol, phosphatidylinositol-4-phosphate, Golgi stress response

Disciplines:Genetics, Systems biology, Molecular and cell biology