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 …

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 …

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

Objective Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation
[PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also …

Advances in research have boosted therapy development for congenital disorders of
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …

Background Mutations in the PMM2 gene cause phosphomannomutase 2 deficiency
(PMM2; MIM# 212065), which manifests as a congenital disorder of glycosylation (PMM2 …

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

Thermal shift assay can be used for the high‐throughput screening of pharmacological
chaperones. These drugs are small molecules that bind a mutant protein and stabilize it. We …

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 …