Common and uncommon pathogenic cascades in lysosomal storage diseases
EB Vitner, FM Platt, AH Futerman - Journal of Biological Chemistry, 2010 - jbc.org
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 …
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 …
