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Article

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.

Human molecular genetics - 15 Aug 2016

Ebrahimi-Fakhari Darius, Wahlster Lara, Bartz Fabian, Werenbeck-Ueding Jennifer, Praggastis Maria, Zhang Jessie, Joggerst-Thomalla Brigitte, Theiss Susanne, Grimm Dirk, Ory Daniel S, Runz Heiko

Abstract excerpt

Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transporting cholesterol and other lipids out of lysosomes, but little is known about the mechanisms that control its cellular abundance and localization. Here we show that a reduction of TMEM97, a cholesterol-responsive NPC1-binding protein, increases NPC1...

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Source

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Identifiers

PMID: 27378690
DOI: 10.1093/hmg/ddw204
PMCID: PMC5179952

Genes

NPC1
TMEM97
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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