Evidence map›Paper›PMID 41756425›Full record

ArticleResearch square2026

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Keri-Lyn Kozul, Ali AlAsmari, Essa Alharby, Reem Zakzouk, Youmian Yan, Aziza Mushiba, Anwar Alhamad, Emily Harrelson, Maya Ayach, Kevin Cho and 25 more

Abstract readPreprint
In one paragraph

Article in Research square, 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

35 authors.

Keri-Lyn KozulWashington University School of Medicine.ORCID 0000-0001-5162-4807
Ali AlAsmariKing Fahad Medical City.
Essa AlharbyTaibah University.
Reem ZakzoukPrince Sultan Military Medical City.
Youmian YanWashington University School of Medicine.ORCID 0000-0001-8733-6989
Aziza MushibaKing Fahad Medical City.
Anwar AlhamadKing Fahad Medical City.
Emily HarrelsonWashington University School of Medicine.ORCID 0000-0003-4601-8217
Maya AyachKing Abdullah University of Science and Technology.ORCID 0000-0003-2213-9890
Kevin ChoWashington University in St. Louis.ORCID 0000-0002-3041-3506
Heba ZahidTaibah University.
Francisca De Luna VitorinoWashington University School of Medicine.ORCID 0000-0001-8543-2299
Richard SearfossWashington University in St. Louis.ORCID 0000-0001-6235-2595
Xingyu LiuWashington University School of Medicine.ORCID 0000-0003-0008-7815
Mohammed A SalehKing Fahad Medical City.
Muhammad LatifTaibah University.
Lianjie WeiWashington University School of Medicine.
Ali AldawoodKing Fahad Medical City.
Laila AlsuhaibaniKing Fahad Medical City.
Mohammed Abdulhafith BafailKing Fahad Medical City.
Thiago MenezesWashington University School of Medicine.
Manar SammanMinistry of Health.
Hannah PletcherWashington University School of Medicine.ORCID 0000-0002-2410-3093
Ibrahim SandokjiTaibah University.
Walaa BorhanTaibah University.
Tessa LochettoWashington University School of Medicine.
Abrar AlamriKing Fahad Medical City.ORCID 0009-0000-9754-9443
Wedad MudayfinKAUST.
Leah ShriverWashington University in St. Louis.
Benjamin GarciaWashington University in St. Louis.ORCID 0000-0003-3596-4750
Eissa FaqeihKing Fahad Medical City.
Gary PattiWashington University in St. Louis.ORCID 0000-0002-3748-6193
Natalie NiemiWashington University School of Medicine in St. Louis.ORCID 0000-0002-5174-4005
Naif AlmontashiriTaibah University.ORCID 0000-0003-3607-395X

Funding

Quantitative mass spectrometry for comprehending epigenetic mechanisms in a new underlying neurological developmental disorderR01HD106051 · NICHD · WASHINGTON UNIVERSITY · PI Benjamin A Garcia · 2022 to 2026
$2.6M
NICHD NIH HHS R01 HD106051
6 · The paper itself

Abstract

The mitochondrial phosphatase PPTC7 has emerged as a potent regulator of metabolism and mitophagy as its global knockout leads to perinatal lethality in mice. However, no known Mendelian diseases have been linked to

Identifiers

PMID41756425
PMCPMC12934916

What OpenQuestion holds

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Registered trials

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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.