Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease.

ABSTRACT: Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids. Progressive neurological deterioration and insurgence of symptoms like ataxia, seizure, and cognitive decline until severe dementia are pathognomonic features of the disease. Here, we studied synaptic plasticity phenomena and evaluated ERKs activation in the hippocampus of BALB/c NPC1-/- mice, a well described animal model of the disease. Our results demonstrated an impairment of both induction and maintenance of long term synaptic potentiation in NPC1-/- mouse slices, associated with the lack of ERKs phosphorylation. We then investigated the ef

SUBMITTER: D'Arcangelo G 

PROVIDER: S-EPMC4738957 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature