Evidence map›Paper›PMID 42256287›Full record

ArticleiScience2026

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity.

Andrew B Munkacsi, Gabriella E Conway, Keri Multerer, Michael D Jackson, Lauren Csaki, Tamayanthi Rajakumar, Jeffrey P Sheridan, Eliatan Niktab, Wuh-Liang Hwu, Yin-Hsiu Chien and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

20 authors.

Andrew B MunkacsiSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Gabriella E ConwaySchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Keri MultererSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Michael D JacksonSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Lauren CsakiDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Tamayanthi RajakumarSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Jeffrey P SheridanSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Eliatan NiktabSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Wuh-Liang HwuCenter for Precision Medicine, China Medical University Hospital, Taichung, Taiwan.
Yin-Hsiu ChienDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Mark WalterfangDepartment Neuropsychiatry Centre, Royal Melbourne Hospital, Melbourne, VIC, Australia.
Cintya Del Rio HernandezSchool of Biological Sciences, Victoria University of Wellington, Wellington, New Zealand.
Robin B ChanDepartment of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.
Bowen ZhouCase Western Reserve University School of Medicine, Cleveland, OH, USA.
Renu NandakumarDepartment of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.
Peixang ZhangDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Gilbert Di PaoloDenali Therapeutics Inc., San Francisco, CA, USA.
Robert A MaueDepartments of Biochemistry and Cell Biology and of Medical Education, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Karen ReueDepartment of Human Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
Stephen L SturleyDepartment of Biology, Barnard College at Columbia University, New York, NY, USA.

Funding

Sex Differences in Postprandial Lipid MetabolismR01DK128898 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Karen Reue, Peixiang Zhang · 2022 to 2026
$2.2M
NIDDK NIH HHS R01 DK128898
6 · The paper itself

Abstract

Niemann-Pick type C (NP-C) disease is a fatal, neurodegenerative disorder caused by lysosomal lipid accumulation with variable symptomatic penetrance at the primary disease locus encoded by the NPC1 gene. We identified genetic modifiers of disease progression by integrating genetic, genomic, and lipidomic analyses across yeast, mice, and human patients. A yeast screen identified 45 candidate modifiers of disease severity, including phosphatidic acid hydrolase (

Indexed as

DiseaseGenomicsLipidomicsModel organismNeurogenetics

Identifiers

PMID42256287
PMCPMC13233811

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.