Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. We identified two patients with defective serum transferrin glycosylation and mutations in the MAGT1 gene. These patients present with a phenotype that is mainly characterized by intellectual and developmental disability. MAGT1 has been described to be a subunit of the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Digestive system and related health
• Share to Erythrocyte Function and Pathophysiology
• Share to Glycosylation and Glycoproteins Research