Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC.

doi:10.1007/978-3-031-21547-6_5

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Article

Alterations in Cholesterol and Phosphoinositides Levels in the Intracellular Cholesterol Trafficking Disorder NPC.

Advances in experimental medicine and biology - 1 Jan 2023

Cologna Stephanie M, Pathmasiri Koralege C, Pergande Melissa R, Rosenhouse-Dantsker Avia

Abstract excerpt

Lipid mistrafficking is a biochemical hallmark of Niemann-Pick Type C (NPC) disease and is classically characterized with endo/lysosomal accumulation of unesterified cholesterol due to genetic mutations in the cholesterol transporter proteins NPC1 and NPC2. Storage of this essential signaling lipid leads to a sequence of downstream events, including oxidative stress, calcium imbalance, neuroinflammation, and...

Topics

Animals
Cholesterol
Proteins
Biological Transport
Niemann-Pick Disease, Type C
Mutation

Source

Open in PubMed

Identifiers

PMID: 36988880
DOI: 10.1007/978-3-031-21547-6_5

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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