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Article

Before the loss: neuronal dysfunction in Niemann-Pick Type C disease.

Biochimica et biophysica acta - 11 Oct 2004

Paul Colleen A, Boegle Aimee K, Maue Robert A

Abstract excerpt

Niemann-Pick Type C (NPC) disease is an autosomal recessive disorder caused by mutations in either the NPC1 or HE1 genes. Hallmarks of this presently incurable disease include abnormal intracellular accumulation of cholesterol and glycosphingolipids, progressive neuropathology and neurodegeneration, and premature death. There have been increased efforts to understand the effects of NPC disease on neurons of the...

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Source

Identifiers

PMID: 15465427
DOI: 10.1016/j.bbalip.2004.08.012

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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