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Lysosomal storage diseases (LSDs), of which about 50 are known, are caused by the defective activity of lysosomal proteins, resulting in accumulation of unmetabolized substrates. As a result, a variety of pathogenic cascades are activated such as altered calcium homeostasis, oxidative stress, inflammation, altered lipid trafficking, autophagy, endoplasmic reticulum stress, and autoimmune responses. Some of these pathways are common to many LSDs, whereas others are only altered in a subset of LSDs. We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches.

Original publication

DOI

10.1074/jbc.R110.134452

Type

Journal article

Journal

J Biol Chem

Publication Date

02/07/2010

Volume

285

Pages

20423 - 20427

Keywords

Antigens, CD, Autoimmune Diseases, Autophagy, Calcium, Endoplasmic Reticulum, Free Radicals, G(M2) Ganglioside, G(M3) Ganglioside, Gaucher Disease, Humans, Lactosylceramides, Lysosomal Storage Diseases, Lysosomes, Mitochondria, Oxidative Stress