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Article

Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.

PloS one - 1 Jan 2011

Hovakimyan Marine, Petersen Jana, Maass Fabian, Reichard Maria, Witt Martin, Lukas Jan, Stachs Oliver, Guthoff Rudolf, Rolfs Arndt, Wree Andreas

Abstract excerpt

BACKGROUND: Niemann Pick disease type C1 is a neurodegenerative disease caused by mutations in the NPC1 gene, which result in accumulation of unesterified cholesterol and glycosphingolipids in the endosomal-lysosomal system as well as limiting membranes. We have previously shown the corneal involvement in NPC1 pathology in form of intracellular inclusions in epithelial cells and keratocytes. The purpose of the...

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Identifiers

PMID: 22163015
DOI: 10.1371/journal.pone.0028418
PMCID: PMC3232193

Genes

NPC1

Provenance

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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