SnapShot: Lysosomal Storage Diseases.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 32032518.
- Also identified by DOI 10.1016/j.cell.2020.01.017 and PMC identifier 8411567.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Lysosomal storage diseases (LSDs) represent a group of monogenic inherited metabolic disorders characterized by the progressive accumulation of undegraded substrates inside lysosomes, resulting in aberrant lysosomal activity and homeostasis. This SnapShot summarizes the intracellular localization and function of proteins implicated in LSDs. Common aspects of LSD pathogenesis and the major current therapeutic approaches are noted. To view this SnapShot, open or download the PDF.
Medical subject headings
- Lysosomal Storage Diseases
- Lysosomes