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Article

Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease.

Journal of neuropathology and experimental neurology - 1 Apr 2004

Saito Yuko, Suzuki Kinuko, Hulette Christine M, Murayama Shigeo

Abstract excerpt

Niemann-Pick type C1 disease (NPC1) is an autosomal recessive neurovisceral storage disease caused by the mutation of NPC1 gene, resulting in perturbed intracellular transport of unesterified cholesterol. In NPC1, early-onset tauopathy is a constant feature. In addition, in NPC1 patients with ApoE epsilon4 homozygosity, deposition of A beta occurs mimicking Alzheimer disease (AD). Since AD is frequently...

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Source

Identifiers

PMID: 15099022
DOI: 10.1093/jnen/63.4.323

Genes

NPC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease.PMID 15099022Read ↗

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