Lysosomal storage diseases represent a group of about 50 genetic disorders caused by
deficiencies of lysosomal and non-lysosomal proteins. Patients accumulate compounds which …

Background. Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal
storage disorder caused by a deficiency of arylsulfatase A. Three forms of the disease can be …

(Dihydro)ceramide synthase 2 (cers2, formerly called lass2) is the most abundantly expressed
member of the ceramide synthase gene family, which includes six isoforms in mice. …

Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the
deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, …

Metachromatic leukodystrophy is a metabolic disorder caused by the deficiency of arylsulfatase
A. Deficiency of this enzyme is also found in apparently healthy individuals, a condition …

Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited
neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone …

The proteolytic maturation of cathepsin D polypeptides was studied in lysosomes isolated
from metabolically labeled fibroblasts. In lysosomes isolated from fibroblasts labeled with [35S]…

Sphingolipids containing 2-hydroxylated fatty acids are among the most abundant lipid
components of the myelin sheath and therefore are thought to play an important role in formation …

Lysosomal storage disorders comprise a group of more than 30 different diseases. The
common feature of these diseases is the deficiency of a lysosomal protein that is part of a …

A deficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic
leukodystrophy, which is characterized by accumulation of the sphingolipid 3-O-…