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Article

Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease.

Redox biology - 1 Apr 2017

Torres Sandra, Matías Nuria, Baulies Anna, Nuñez Susana, Alarcon-Vila Cristina, Martinez Laura, Nuño Natalia, Fernandez Anna, Caballeria Joan, Levade Thierry, Gonzalez-Franquesa Alba, Garcia-Rovés Pablo, Balboa Elisa, Zanlungo Silvana, Fabrías Gemma, Casas Josefina, Enrich Carlos, Garcia-Ruiz Carmen, Fernández-Checa José C

Abstract excerpt

Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death. While the primary biochemical feature of NPC disease is the intracellular accumulation of cholesterol and gangliosides, predominantly in endolysosomes, mitochondrial cholesterol accumulation has also...

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Source

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Identifiers

PMID: 27888692
DOI: 10.1016/j.redox.2016.11.010
PMCID: PMC5123076

Genes

NPC1
NPC2

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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