SnapShot: Lysosomal Storage Diseases | Zendy

José A. Martina | Zendy; Nina Raben | Zendy; Rosa Puertollano | Zendy

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SnapShot: Lysosomal Storage Diseases

Author(s) -

José A. Martina,

Nina Raben,

Rosa Puertollano

Publication year - 2020

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2020.01.017

Subject(s) - biology , snapshot (computer storage) , intracellular , microbiology and biotechnology , pathogenesis , lysosomal storage disease , computational biology , bioinformatics , biochemistry , immunology , enzyme , computer science , operating system

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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