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Disrupted cellular Ca(2+) signaling is believed to play a role in a number of human diseases including lysosomal storage diseases (LSD). LSDs are a group of ∼50 diseases caused predominantly by mutations in lysosomal proteins that result in accumulation of macromolecules within the lysosome. We recently reported that Niemann-Pick type C (NPC) is the first human disease to be associated with defective lysosomal Ca(2+) uptake and defective NAADP-mediated lysosomal Ca(2+) release. These defects in NPC cells leads to the disruption in endocytosis and subsequent lipid storage that is a feature of this disease. In contrast, Chediak-Higashi Syndrome cells have been reported to have enhanced lysosomal Ca(2+) uptake whilst the TRPML1 protein defective in mucolipidosis type IV is believed to function as a Ca(2+) channel. In this review we provide a summary of the current knowledge on the role of lysosomal Ca(2+) signaling in the pathogenesis of this group of diseases.

Original publication

DOI

10.1016/j.ceca.2011.03.010

Type

Journal article

Journal

Cell Calcium

Publication Date

08/2011

Volume

50

Pages

200 - 205

Keywords

Calcium Signaling, Chediak-Higashi Syndrome, Endocytosis, Endosomes, Homeostasis, Humans, Intracellular Membranes, Lysosomal Storage Diseases, Lysosomes, Mucolipidoses, NADP, Niemann-Pick Disease, Type C, Sphingosine, TRPM Cation Channels, Transient Receptor Potential Channels