GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by
mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β …

The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative
condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the …

Gangliosidoses are caused by monogenic defects of a specific hydrolase or an ancillary
sphingolipid activator protein essential for a specific step in the catabolism of gangliosides …

Gangliosides in the brain play a crucial role in modulating the integrity of vertebrate central
nervous system in a region-specific manner. However, to date, a comprehensive structural …

Abstract Ethnopharmacological relevance Buyang Huanwu Decoction (BYHW) is a classic
representative formula for treating qi deficiency and the blood stasis syndrome of stroke in …

Glycosylation is one of the most important post-translational modifications of proteins and
plays an essential role in spermatogenesis, maturation, extracellular quality control …

Abstract Background Alteration in glycosphingolipids (GSLs) in Parkinson's disease (PD)
still needs to be determined. Objectives We evaluated if PD subjects show abnormal GSLs …

Background GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by
mutations in the GLB1 gene and deficiency in β-galactosidase. Delay of symptom onset and …

Autosomal recessive mutations in the galactosidase β1 (GLB1) gene cause lysosomal β-gal
deficiency, resulting in accumulation of galactose-containing substrates and onset of the …

GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid
storage disorders. The earlier the age of onset, the more severe the clinical presentation and …