The term “pharmacological chaperone” was introduced 20 years ago. Since then the
approach with this type of drug has been proposed for several diseases, lysosomal storage …

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

ABSTRACT Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common
congenital disorder of glycosylation and affects over 1000 patients globally. There are no …

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

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

Protein misfolding induced by missense mutations is the source of hundreds of
conformational diseases. The cell quality control may eliminate nascent misfolded proteins …

Despite advances in the identification and diagnosis of congenital disorders of glycosylation
(CDG), treatment options remain limited and are often constrained to symptomatic …

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 …