Evidence map›Paper›PMID 38193334›Full record

ArticleClinical genetics2024

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.

Mikyoung You, Hanan E Shamseldin, Halle M Fogle, Blake R Rushing, Reem H AlMalki, Amal Jaafar, Mais Hashem, Firdous Abdulwahab, Anas M Abdel Rahman, Natalia I Krupenko and 2 more

Open access · greenAbstract read
In one paragraph

Article in Clinical genetics, 2024. 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
0.8field-weighted citation impact, top 31% of its field
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, 2 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 4 institutions in 2 countries.

Mikyoung YouUNC Nutrition Research Institute, Kannapolis, North Carolina, USA.
Hanan E ShamseldinDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
Halle M FogleUNC Nutrition Research Institute, Kannapolis, North Carolina, USA.
Blake R RushingUNC Nutrition Research Institute, Kannapolis, North Carolina, USA.
Reem H AlMalkiMetabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
Amal JaafarDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
Mais HashemDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
Firdous AbdulwahabDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
Anas M Abdel RahmanMetabolomics Section, Department of Clinical Genomics, Center for Genome Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.
Natalia I KrupenkoUNC Nutrition Research Institute, Kannapolis, North Carolina, USA.
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.ORCID 0000-0003-4158-341X
Sergey A KrupenkoUNC Nutrition Research Institute, Kannapolis, North Carolina, USA.ORCID 0000-0002-6926-2776
King Faisal Specialist Hospital & Research Centre · SAUniversity of North Carolina at Chapel Hill · USAlfaisal University · SADavid H. Murdock Research Institute · US

Funding

Virology Research Program (Program 4)P30CA016086 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Deborah F. Tate · 1985 to 2026
$201.5M
UNIV OF NORTH CAROLINA CLINICAL NUTRITION RESEARCH UNITP30DK056350 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SUSAN M. SMITH · 1999 to 2026
$31.6M
Regulation of mitochondrial function by folate enzyme ALDH1L2 in health and diseaseR01DK117854 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KRUPENKO, SERGEY A · 2019 to 2023
$2.4M
NCI NIH HHS P30 CA016086NIDDK NIH HHS P30 DK056350NIDDK NIH HHS R01 DK117854NIH HHS R01 DK117854
6 · The paper itself

Abstract

ALDH1L2, a mitochondrial enzyme in folate metabolism, converts 10-formyl-THF (10-formyltetrahydrofolate) to THF (tetrahydrofolate) and CO

Indexed as

Oxidoreductases Acting on CH-NH Group DonorsAdenosine TriphosphateFormyltetrahydrofolate DehydrogenaseHumansNADPPhenotypeAdenosine TriphosphateFormyltetrahydrofolate DehydrogenaseNADPOxidoreductases Acting on CH-NH Group DonorsALDH1L2folate metabolismmetabolomicsmissense mutationneurodevelopmental disorder

Identifiers

PMID38193334
PMCPMC10990829
OpenAlexW4390754038

What OpenQuestion holds

Textmetadata
LicenceTDM
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.