Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype [Cell Biology]

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...

Source: Proceedings of the National Academy of Sciences - May 13, 2019 Category: Science Authors: Eline Blommaert, Romain Peanne, Natalia A. Cherepanova, Daisy Rymen, Frederik Staels, Jaak Jaeken, Valerie Race, Liesbeth Keldermans, Erika Souche, Anniek Corveleyn, Rebecca Sparkes, Kaustuv Bhattacharya, Christine Devalck, Rik Schriȷvers, Francois Tags: Biological Sciences Source Type: research