Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect
protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 …

Abnormal polyol metabolism is predominantly associated with diabetes, where excess
glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol …

A large number of mutations causing PMM2-CDG, which is the most frequent disorder of
glycosylation, destabilize phosphomannomutase2. We looked for a pharmacological …

The most common cause of human congenital disorders of glycosylation (CDG) are
mutations in the phosphomannomutase gene PMM2, which affect protein N-linked …

Type I disorders of glycosylation (CDG), the most frequent of which is
phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N …

Abstract Phosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder
of glycosylation (PMM2‐CDG), is a severe condition, which has no cure. Due to the …

Introduction The study of protein stability is crucial to biochemistry and relies on different
methodologies. Recently, the Cellular Thermal Shift Assay has been introduced to study …

PMM2-CDG, a disease caused by mutations in phosphomannomutase-2, is the most
common congenital disorder of glycosylation. Yet, it still lacks a cure. Targeting …

Asparagine-linked glycosylation (N-glycosylation) is a common co-and post-translational
modification that refers to the addition of complex carbohydrates, called N-linked glycans (N …

Congenital disorders of glycosylation (CDG) include 150 genetically and clinically
heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to …