Evidence map›Paper›PMID 40739229›Full record

ReviewLipids in health and disease2025

Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.

Roshan Javanshad, Wenping Li, Koralege C Pathmasiri, Stephanie M Cologna

Abstract readReview
In one paragraph

Review in Lipids in health and disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Roshan Javanshad *Department of Chemistry, University of Illinois Chicago, Chicago, 60607, IL, USA.
Wenping Li *Department of Chemistry, University of Illinois Chicago, Chicago, 60607, IL, USA.
Koralege C Pathmasiri *Department of Chemistry, University of Illinois Chicago, Chicago, 60607, IL, USA.
Stephanie M ColognaDepartment of Chemistry, University of Illinois Chicago, Chicago, 60607, IL, USA. cologna@uic.edu.

Funding

Pilot Program CoreP30ES027792 · NIEHS · UNIVERSITY OF CHICAGO · PI Gokhan M. Mutlu, Gail S Prins · 2017 to 2026
$13.6M
Novel Therapeutic Approaches for NPC DiseaseR01NS124784 · NINDS · UNIVERSITY OF ILLINOIS AT CHICAGO · PI Vinay Aakalu, Stephanie M Cologna · 2022 to 2026
$2.9M
Development of autophagy modulators for evaluation as a therapeutic strategy for Niemann-Pick Type CR01NS114413 · NINDS · UNIVERSITY OF ILLINOIS AT CHICAGO · PI COLOGNA, STEPHANIE M · 2020 to 2024
$2.0M
FDA HHS U01 FD008126NIEHS NIH HHS P30 ES027792NINDS NIH HHS R01 NS114413NINDS NIH HHS R01 NS124784NINDS NIH HHS R01NS124784; R01NS124784
6 · The paper itself

Abstract

Niemann-Pick type C (NPC) disease is a devastating, fatal, neurodegenerative disease and a form of lysosomal storage disorder. It is caused by mutations in either NPC1 or NPC2 genes, leading to the accumulation of cholesterol and other lipids in the late endosome/lysosome system, a hallmark of the disease. Due to aberrant lipid trafficking in NPC, various techniques have been employed to study cholesterol and lipid dysregulation. Among them, mass spectrometry (MS)-based lipidomics has emerged as a state-of-the-art approach, providing valuable insights into disease pathophysiology, progression, and therapeutic target development. This review highlights the MS instruments used for lipidomics studies and discusses lipid biomarkers identified using MS in the context of NPC disease. Furthermore, integrating lipidomics with other -omics approaches, and leveraging the power of artificial intelligence, should be prioritized in future studies to holistically understand NPC disease.

Indexed as

LipidomicsLipidsMass SpectrometryNiemann-Pick Disease, Type CAnimalsBiomarkersCholesterolHumansLipid MetabolismMutationNiemann-Pick C1 ProteinVesicular Transport ProteinsBiomarkersCholesterolLipidsNiemann-Pick C1 ProteinNPC1 protein, humanNPC2 protein, humanVesicular Transport Proteins

Identifiers

PMID40739229
PMCPMC12308988

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.