SnapShot: Lysosomal Storage Diseases

Cell. 2020 Feb 6;180(3):602-602.e1. doi: 10.1016/j.cell.2020.01.017.

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.

MeSH terms

  • Animals
  • Autophagy
  • Enzymes / metabolism
  • Eukaryotic Cells / metabolism
  • Homeostasis
  • Humans
  • Lysosomal Membrane Proteins / metabolism
  • Lysosomal Storage Diseases / classification
  • Lysosomal Storage Diseases / metabolism*
  • Lysosomal Storage Diseases / pathology*
  • Lysosomal Storage Diseases / therapy
  • Lysosomes / metabolism*

Substances

  • Enzymes
  • Lysosomal Membrane Proteins