Common and uncommon pathogenic cascades in lysosomal storage diseases.

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