Publications by authors named "Gabriela Magali Papazoglu"
Human ALG2 encodes an α 1,3mannosyltransferase that catalyzes the first steps in the synthesis of N-glycans in the endoplasmic reticulum. Variants in ALG2cause a congenital disorder of glycosylation (CDG) known as ALG2-CDG. Up to date, nine ALG2-CDG patients have been reported worldwide.
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- ALG13 is crucial for synthesizing a specific molecule necessary for glycosylation, and mutations in this gene cause a rare form of epilepsy called EIEE36, also classified as ALG13-CDG.
- Despite being a glycosylation disorder, cases of ALG13-CDG do not exhibit the expected glycosylation defects typically found in other disorders.
- A study identified 29 new cases affected by ALG13 mutations, revealing a high prevalence of West syndrome, with patients responding well to certain treatments like adrenocorticotropic hormone and a ketogenic diet for managing epilepsy.