Since the discovery of the lysosome in 1955, advances have been made in understanding
the key roles and functions of this organelle. The concept of lysosomal storage diseases …

Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group
of neurodegenerative disorders of white matter with a wide age of onset and phenotypic …

Krabbe disease or globoid cell leukodystrophy is one of the classic genetic lysosomal
storage diseases with autosomal recessive inheritance that affects both central and …

Glycosphingolipids (GSLs) are a specialized class of membrane lipids composed of a
ceramide backbone and a carbohydrate-rich head group. GSLs populate lipid rafts of the …

Leukodystrophies usually affect children, but in the last several decades, many instances of
adult leukodystrophies have been reported in the medical literature. Because the clinical …

Purpose: Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency.
Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and …

Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder of
myelination caused by the deficiency of galactocerebrosidase (GALC) activity. This enzyme …

Accumulation of the protein α-synuclein into insoluble intracellular deposits termed Lewy
bodies (LBs) is the characteristic neuropathological feature of LB diseases, such as …

Ceramides are a family of bioactive lipids belonging to the class of sphingolipids.
Sphingolipidoses are a group of inherited genetic diseases characterized by the …

Krabbe disease (KD) is a lysosomal storage disease (LSD) caused by mutations in the galc
gene. There are over 50 monogenetic LSDs, which largely impede the normal development …