Lipids represent the most abundant molecular type in the brain, with a fat content of∼ 60%
of the dry brain weight in humans. Despite this fact, little attention has been paid to …

Multiple sclerosis (MS) represents the most common demyelinating disease affecting the
central nervous system (CNS) in adults as well as in children. Furthermore, in children, in …

Human genetics have defined a new neurodevelopmental syndrome caused by loss-of-
function mutations in MYT1L, a transcription factor known for enabling fibroblast-to-neuron …

Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD)
characterized by progressive and profound demyelination. Infantile, juvenile and adult-onset …

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

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

Purpose Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement
of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity …

Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a lysosomal storage
disorder causing extensive demyelination in the central and peripheral nervous systems …

Many therapies for lysosomal storage disorders rely on cross-correction of lysosomal
enzymes. In globoid cell leukodystrophy (GLD), mutations in GALC cause psychosine …

Lyso-glycosphingolipids are generated in excess in glycosphingolipid storage disorders. In
the course of these pathologies glycosylated sphingolipid species accumulate within …