Glycosidases are ubiquitous enzymes that catalyze the hydrolysis of glycosidic linkages in
oligosaccharides and glycoconjugates. These enzymes play a vital role in a wide variety of …

GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside
accumulation into the lysosome due to mutations on the genes encoding for the β …

Many diseases are driven by proteins that are aberrantly ubiquitinated and degraded. These
diseases would be therapeutically benefited by targeted protein stabilization (TPS). Here we …

Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation
in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha …

Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the
inability to metabolize galactose, a sugar contained in milk (the main source of nourishment …

Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused
by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1 …

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

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 …

Fluorogenic substrates are emerging tools that enable studying enzymatic processes within
their native cellular environments. However, fluorogenic substrates that function within live …

Pharmaceutical chaperones (PCs) are small compounds able to bind and stabilize
misfolded proteins, allowing them to recover their native folding and thus their biological …