Ontology highlight
ABSTRACT:
SUBMITTER: Shaimardanova AA
PROVIDER: S-EPMC7606900 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Shaimardanova Alisa A AA Chulpanova Daria S DS Solovyeva Valeriya V VV Mullagulova Aysilu I AI Kitaeva Kristina V KV Allegrucci Cinzia C Rizvanov Albert A AA
Frontiers in medicine 20201020
Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems. The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein B (SapB) and it clinically manifests as progressive motor and cognitive deficiency. ARSA and SapB protein deficiency are caused by mutations in the ARSA and PSAP genes, respectively ...[more]