Lysosomes are membrane-bound organelles with roles in processes involved in degrading
and recycling cellular waste, cellular signalling and energy metabolism. Defects in genes …

Lysosomal storage diseases are a group of rare and ultra-rare genetic disorders caused by
defects in specific genes that result in the accumulation of toxic substances in the lysosome …

Abstract Purpose GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic
variants in GLB1, is characterized by relentless neurodegeneration. There are no approved …

GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders:
GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 …

Introduction Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage
disorder, with life expectancy of< 3 years of age. To date, only one prospective natural …

Objective To evaluate the clinical presentation of patients with GM1 gangliosidosis and to
determine whether specific clinical or biochemical signs could lead to a prompt diagnosis …

GM1 gangliosidosis is a rare lysosomal storage disease caused by a deficiency of β-
galactosidase due to mutations in the GLB1 gene. We established a C57BL/6 mouse model …

Background The gangliosidoses are rare inherited diseases that result in pathologic
accumulation of gangliosides in the central nervous system and other tissues, leading to …

GM1 ganglioside, a monosialic glycosphingolipid and a crucial component of plasma
membranes, accumulates in lysosomal storage disorders, primarily in GM1 gangliosidosis …

Background In this study, the prevalence of different types of mucopolysaccharidoses (MPS)
was estimated based on data from the exome aggregation consortium (ExAC) and the …