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Article

Small Molecules to Elevate Rab7-GTPase Activity and Lower Cholesterol Accumulation in Niemann-Pick Type C Disease.

Pharmaceutical research - 1 Apr 2026

Nguyen Mai K L, Nikenich Maya R, Seifert Kim, Pinkenburg Céline, Lai Felcia, Walther Hanna-Loisa, Hartmann Martje, Szulc Aleksandra, Sparkes Eric, Chen Shihui, Wikramanayake Ravi, Bernaus-Esqué Marc, Liu Yangjing, Tebar Francesc, Serwetnyk Michael, Wenninger Anna, Patzke Christopher, Blagg Brian S J, Ashfeld Brandon L, Groundwater Paul W, Hibbs David E, Hoy Andrew J, Rentero Carles, Enrich Carlos, Cho Ann-Na, Du Jonathan J, Grewal Thomas

Abstract excerpt

PURPOSE: Niemann-Pick type C (NPC) disease caused by mutations in cholesterol transporters NPC1 or NPC2 is characterized by cholesterol accumulation in late endosomes/lysosomes (LE/Lys). The activation of alternative cholesterol export routes that can bypass NPC1/2 deficiency could provide therapeutic opportunities. We previously demonstrated that gene depletion of the Rab7-GTPase activating protein (GAP)...

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Androstenes
CHO Cells
Cricetulus
GTPase-Activating Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Niemann-Pick C1 Protein

Niemann-Pick Disease, Type C

rab GTP-Binding Proteins

rab7 GTP-Binding Proteins

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Identifiers

PMID: 41776152
DOI: 10.1007/s11095-026-04058-8
PMCID: PMC13179269

Genes

NPC1
TBC1D15
NPC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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