Deregulation of cdk5, Hyperphosphorylation, and Cytoskeletal Pathology in the Niemann–Pick Type C Murine Model

Abstract excerpt

NPC-1 gene mutations cause Niemann-Pick type C (NPC), a neurodegenerative storage disease resulting in premature death in humans. Spontaneous mutation of the NPC-1 gene in mice generates a similar phenotype, usually with death ensuing by 12 weeks of age. Both human and murine NPC are characterized neuropathologically by ballooned neurons distended with lipid storage, axonal spheroid formation, demyelination, and...

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