Evidence map›Paper›PMID 39940658›Full record

ArticleInternational journal of molecular sciences2025

Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.

Bernardina Scafuri, Stefania Piscosquito, Giulia Giliberti, Angelo Facchiano, Jaden Miner, Bijina Balakrishnan, Kent Lai, Anna Marabotti

Abstract read
In one paragraph

Article in International journal of molecular sciences, 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. Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.Journal of inherited metabolic disease · 2025
    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

8 authors.

Bernardina ScafuriDepartment of Chemistry and Biology "A. Zambelli", University of Salerno, 84084 Fisciano, Italy.
Stefania PiscosquitoDepartment of Chemistry and Biology "A. Zambelli", University of Salerno, 84084 Fisciano, Italy.
Giulia GilibertiDepartment of Chemistry and Biology "A. Zambelli", University of Salerno, 84084 Fisciano, Italy.
Angelo FacchianoInstitute of Food Science, National Research Council, 83100 Avellino, Italy.ORCID 0000-0002-7077-4912
Jaden MinerDivision of Medical Genetics, Department of Pediatrics, Spencer Fox Eccles School of Medicine, University of Utah, Salt Lake City, UT 84108, USA.
Bijina BalakrishnanDivision of Medical Genetics, Department of Pediatrics, Spencer Fox Eccles School of Medicine, University of Utah, Salt Lake City, UT 84108, USA.
Kent LaiDivision of Medical Genetics, Department of Pediatrics, Spencer Fox Eccles School of Medicine, University of Utah, Salt Lake City, UT 84108, USA.ORCID 0000-0002-2377-9905
Anna MarabottiDepartment of Chemistry and Biology "A. Zambelli", University of Salerno, 84084 Fisciano, Italy.ORCID 0000-0002-9510-5205

Funding

Pathobiological mechanisms of cardiac disease in PGM1-CDGR01HL167866 · NHLBI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Sihem Boudina, Kent Lai · 2024 to 2026
$1.9M
Advancing a novel experimental mRNA-based therapy for Classic GalactosemiaR21HD104056 · NICHD · UNIVERSITY OF UTAH · PI LAI, KENT · 2021 to 2022
$419k
Bank of Italy Erogazione liberaleNHLBI NIH HHS R01 HL167866NICHD NIH HHS R21 HD104056NIH HHS 1 R01 HL167866NIH HHS 1 R21 HD104056University of Salerno ORSA208455University of Salerno ORSA219407University of Salerno ORSA229241University of Salerno ORSA231908
6 · The paper itself

Abstract

Classic galactosemia is a rare disease with long-term consequences that seriously affect the quality of life of patients. To date, various therapeutic approaches are being developed, but treatments that target the molecular defects in the mutant galactose-1-phosphate uridylyltransferase (

Indexed as

CiclopiroxEnzyme ActivatorsGalactosemiasGalactosephosphatesUTP-Hexose-1-Phosphate UridylyltransferaseAllosteric SiteAmbroxolDrug RepositioningFibroblastsHumansMolecular Docking SimulationMutationPrimary Cell CultureProtein BindingPyrimethamineAmbroxolCiclopiroxEnzyme Activatorsgalactose-1-phosphateGalactosephosphatesGALT protein, humanPyrimethamineUTP-Hexose-1-Phosphate Uridylyltransferaseclassic galactosemiadrug repurposingpharmacochaperonesprotein mutationsrare diseasesvirtual screening

Identifiers

PMID39940658
PMCPMC11816840

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.