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Article

Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease.

PloS one - 1 Jan 2014

Zampieri Stefania, Bianchi Ezio, Cantile Carlo, Saleri Roberta, Bembi Bruno, Dardis Andrea

Abstract excerpt

Niemann-Pick C disease (NPC) is an autosomal recessive lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids within the lysosomes due to mutation in NPC1 or NPC2 genes. A feline model of NPC carrying a mutation in NPC1 gene has been previously described. We have identified two kittens affected by NPC disease due to a mutation in NPC2 gene. They manifested with...

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Source

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Identifiers

PMID: 25396745
DOI: 10.1371/journal.pone.0112503
PMCID: PMC4232374

Genes

NPC2
NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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