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Article

New agents and approaches to treatment in Niemann-Pick type C disease.

Current pharmaceutical biotechnology - 1 Jun 2011

Pérez-Poyato María S, Pineda Mercé

Abstract excerpt

Niemann-Pick disease type C is an autosomal recessive disorder caused by mutations in either one of the two genes, NPC1 or NPC2, which encode proteins involved in the regulation of normal transport and/or processing of free cholesterol. Several types of lipids including free cholesterol (unesterified), sphingosine, sphingomyelin, phospholipids and glycosphingolipids (glucosylceramide and gangliosides GM2 and GM3)...

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Source

Identifiers

PMID: 21235443
DOI: 10.2174/138920111795542697

Genes

NPC1
NPC2

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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