Article
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
American journal of medical genetics. Part A - 1 Jan 2021
Poskanzer Sheri A, Schultz Matthew J, Turgeon Coleman T, Vidal-Folch Noemi, Liedtke Kris, Oglesbee Devin, Gavrilov Dimitar K, Tortorelli Silvia, Matern Dietrich, Rinaldo Piero, Bennett James T, Thies Jenny M, Chang Irene J, Beck Anita E, Raymond Kimiyo, Allenspach Eric J, Lam Christina
Abstract excerpt
Glycosylation is a critical post/peri-translational modification required for the appropriate development and function of the immune system. As an example, abnormalities in glycosylation can cause antibody deficiency and reduced lymphocyte signaling, although the phenotype can be complex given the diverse roles of glycosylation. Human MGAT2 encodes N-acetylglucosaminyltransferase II, which is a critical enzyme in...
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