NIEMANN-PICK DISEASE TYPE C1 IS A SPHINGOSINE STORAGE DISEASE THAT CAUSES DEREGULATION OF LYSOSOMAL CALCIUM

Defines the rare lysosomal storage disease Niemann-Pick type C as the first human disease resulting from endolysosomal calcium dysfunction, and demonstrates that correction of cellular calcium homeostasis can improve disease symptoms.Nature Medicine 14, 1247-1255 (2008).

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