The cell biology of lysosomal storage disorders

By A. Futerman, G. Meer. Nature reviews. Molecular cell biology, 2004

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An overview of sphingolipid metabolism: from synthesis to breakdown (2010, background): “Due to the limited scope of this chapter, the reader is referred to several recent reviews on lipid storage diseases for more expansive information on the variety of lipid storage diseases due to glycosphingolipid enzyme mutations [73], [74].”
Subcellular targeting strategies for drug design and delivery (2010, background): “Genetic deficiency in lysosomal hydrolases or proteins involved in the efflux of metabolites causes lysosomal storage disease”
Inclusion formation and neuronal cell death through neuron-to-neuron transmission of α-synuclein (2009, background): “Lysosomal activity decreases with aging, and mutations in lysosomal hydrolases cause neurodegeneration in several inherited lysosomal storage disorders (23, 24).”
Autophagy and lysosomal dysfunction as emerging mechanisms of nanomaterial toxicity (2012, background): “The lysosomal degradation pathways play a vital role in cellular homeostasis, and lysosomal dysfunction has been associated with several disease states, termed lysosomal storage disorders [33,50].”