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 …

Lysosomal storage diseases (LSDs) are a group of rare, life-threatening genetic disorders,
usually caused by a dysfunction in one of the many enzymes responsible for intralysosomal …

Background Variants in the GBA1 gene, which encodes lysosomal acid glucocerebrosidase,
are among the most common genetic risk factors for Parkinson's disease and are associated …

Abstract Background Haploinsufficiency in the Gaucher disease GBA gene, which encodes
the lysosomal glucocerebrosidase GBA, and ageing represent major risk factors for …

Cyclophellitol aziridine-type activity-based probes allow for ultra-sensitive visualization of
mammalian β-glucosidases (GBA1, GBA2, GBA3, and LPH) as well as several non …

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused
by the deficiency of any of the lysosomal functions, in most cases of lysosomal hydrolases …

Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited
glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases …

Glycosphingolipids are important building blocks of the outer leaflet of the cell membrane.
They are continuously recycled, involving fragmentation inside lysosomes by glycosidases …

Lysosome membrane recycling occurs at the end of the autophagic pathway and requires
proteins that are mostly encoded by genes mutated in neurodegenerative diseases …

Niemann-Pick type C (NPC) 1 is a rare neurodegenerative disease for which treatment
options are limited. A major barrier to development of effective treatments has been the lack …