Evidence map›Paper›PMID 41426433›Full record

ArticleBrain communications2025

Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency.

Meghan M Eller, Aamir R Zuberi, Xiaorong Fu, Alina P Montalbano, Felix Nitschke, Shawn C Burgess, Cat Lutz, Rachel M Bailey

Abstract read
In one paragraph

Article in Brain communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Article
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

8 authors.

Meghan M EllerGraduate School of Biomedical Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.ORCID https://orcid.org/0000-0002-7383-5549
Aamir R ZuberiThe Jackson Laboratory Center for Precision Genetics, The Jackson Laboratory, Bar Harbor, ME 04609, USA.ORCID https://orcid.org/0000-0003-0252-9760
Xiaorong FuCenter for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
Alina P MontalbanoDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
Felix NitschkeDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.ORCID https://orcid.org/0000-0002-1118-2693
Shawn C BurgessCenter for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
Cat LutzThe Jackson Laboratory Center for Precision Genetics, The Jackson Laboratory, Bar Harbor, ME 04609, USA.
Rachel M BaileyCenter for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.

Funding

Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI Paul Robson · 1985 to 2026
$61.9M
UT Southwestern NORCP30DK127984 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI Jeffrey M Zigman · 2022 to 2026
$7.4M
Factors controlling metabolic flux in the liver - Supplement RevisionR01DK078184 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI Shawn C Burgess · 2008 to 2026
$6.8M
Uncovering cellular mechanisms to keep glycogen water-solubleR01NS128437 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI Felix Nitschke · 2022 to 2026
$2.0M
NCI NIH HHS P30 CA034196NIDDK NIH HHS P30 DK127984NIDDK NIH HHS R01 DK078184NINDS NIH HHS R01 NS128437
6 · The paper itself

Abstract

ECHS1 deficiency (ECHS1D) is a rare and devastating neurometabolic disease that currently has no defined treatments. This disorder results from missense loss-of-function mutations in the

Indexed as

ECHS1EEGepilepsyinflammationmetabolism

Identifiers

PMID41426433
PMCPMC12715774

What OpenQuestion holds

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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.