Evidence map›Paper›PMID 41594547›Full record

ArticleBiomolecules2025

Metabolomic Profiling Reveals Brain Lipid Alterations in

Riya Sankhe, Meredith I Williams, Wedad Fallatah, Laura Mackay, Mary Layne Brown, Pranjali Bhagwat, Sarah H Elsea, Nancy Braverman, Michael F Wangler

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomolecules, 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. Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026
    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

9 authors.

Riya SankheDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Meredith I WilliamsDevelopment, Disease Models and Therapeutics Graduate Program, Baylor College of Medicine (BCM), Houston, TX 77030, USA.ORCID 0000-0003-3985-4495
Wedad FallatahGenetics Laboratories, Department of Genetic Medicine, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21287, USA.
Laura MackayDepartment of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.ORCID 0000-0002-1189-3102
Mary Layne BrownDepartment of Plant and Wildlife Sciences, Brigham Young University, Provo, UT 84604, USA.
Pranjali BhagwatDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.ORCID 0000-0003-1982-5996
Sarah H ElseaDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
Nancy BravermanDepartments of Pediatrics and Human Genetics, McGill University and the Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada.ORCID 0000-0003-1621-5164
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.ORCID 0000-0001-5245-5910

Funding

Neuronal Mechanisms of Metabolic and Genetic Defects of the PeroxisomeR01NS107733 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI WANGLER, MICHAEL FRANCIS · 2021 to 2025
$2.3M
NIH HHS 1R01NS107733-25NINDS NIH HHS R01 NS107733
6 · The paper itself

Abstract

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisomal disorder characterized by skeletal shortening, intellectual disability, seizures, cataracts, and reduced lifespans. RCDP1 is caused by biallelic loss-of-function variants in

Indexed as

ATPases Associated with Diverse Cellular ActivitiesBrainChondrodysplasia Punctata, RhizomelicMetabolomicsAnimalsDisease Models, AnimalHumansLipid MetabolismMaleMiceMice, KnockoutPeroxisomal Targeting Signal 2 ReceptorPlasmalogensATPases Associated with Diverse Cellular ActivitiesPeroxisomal Targeting Signal 2 ReceptorPEX7 protein, humanPlasmalogensether lipidsmetabolomicsmouse modelsperoxisomeperoxisome biogenesis disordersPex7plasmalogen

Identifiers

PMID41594547
PMCPMC12839017

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.