Insight into the pathophysiology of glycosylation disorders
Congenital disorders of glycosylation (CDG) are characterised by defects in the glycosylation of proteins and lipids. The variable phenotypes and clinical presentations of patients with the same genetic mutations have urged scientists of the EU-funded OST-CDG-omics project to study genotype–phenotype associations more closely. Using transcriptomics and epigenomics technologies, they will analyse the impact of mutation on enzyme function and also study the proteins most affected by aberrant glycosylation. The work will mainly focus on the MAGT1 gene, a gene that codes for a transmembrane transporter of magnesium ions. Results will offer fundamental insight into the genes implicated in the pathophysiology of CDG, with important clinical consequences.
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