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Article

Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin.

Human molecular genetics - 15 Nov 2012

Maulik Mahua, Ghoshal Bibaswan, Kim John, Wang Yanlin, Yang Jing, Westaway David, Kar Satyabrata

Abstract excerpt

Niemann-Pick type C (NPC) disease, an autosomal recessive disorder caused primarily by loss-of-function mutations in NPC1 gene, is characterized neuropathologically by intracellular cholesterol accumulation, gliosis and neuronal loss in selected brain regions. Recent studies have shown that NPC disease exhibits intriguing parallels with Alzheimer's disease (AD), including the presence of tau-positive...

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Identifiers

PMID: 22869680
DOI: 10.1093/hmg/dds322

Genes

APP
NPC1

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Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin.PMID 22869680Read ↗

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