Evidence map›Paper›PMID 40710358›Full record

ArticleCells2025

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.

Rosa J Torres, Gerard Valentines-Casas, Claudia Cano-Estrada, Neus Ontiveros, José M López

Abstract read
In one paragraph

Article in Cells, 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. 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

5 authors.

Rosa J TorresDepartment of Biochemistry, Hospital La Paz Institute for Health Research (IdiPaz), 28046 Madrid, Spain.ORCID 0000-0003-4438-8900
Gerard Valentines-CasasInstitut de Neurociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain.ORCID 0009-0009-3607-1736
Claudia Cano-EstradaInstitut de Neurociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain.ORCID 0009-0006-9177-9241
Neus OntiverosInstitut de Neurociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain.
José M LópezInstitut de Neurociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain.ORCID 0000-0002-4104-6262

Funding

La Marató de TV3 Foundation 776/C/2020Spanish Ministry of Science and Innovation PID2020-113124RB-C21Spanish Ministry of Science and Innovation PID2020-113124RB-C22the Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Spain Not available
6 · The paper itself

Abstract

Lesch-Nyhan disease (LND) is associated with a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity due to mutations in the HPRT1 gene. Although the physiopathology of LND-related neurological manifestations remains unknown, a defective neuronal developmental process is the most widely accepted hypothesis. We generated an HPRT-deficient line from the pluripotent human embryonic cell line NT2/D1 by CRISPR-Cas9 and induced its differentiation along neuroectodermal lineages by retinoic acid treatment. As levels of folic acid in the culture media may affect results in LND models, we employed physiological levels of folate. The effect of HPRT deficiency on neural development-related gene expression was evaluated using two methodological approaches: a directed qPCR array of genes related to neuronal differentiation, and global gene expression by RNAseq. HPRT-deficient pluripotent cells presented altered expression of genes related to pluripotency in human embryonic stem cells, such as

Indexed as

Folic AcidGene Expression ProfilingHypoxanthine PhosphoribosyltransferaseCell DifferentiationCell LineHuman Embryonic Stem CellsHumansLesch-Nyhan SyndromeFolic AcidHypoxanthine PhosphoribosyltransferaseHPRTLesch–Nyhannervous system developmentpurineRNAseq

Identifiers

PMID40710358
PMCPMC12293902

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.