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

SnapShot: Lysosomal Storage Diseases

José A Martina  1 , Nina Raben  1 , Rosa Puertollano  1
Affiliations

SnapShot: Lysosomal Storage Diseases

José A Martina et al. Cell. .

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.

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