Evidence map›Paper›PMID 40335571›Full record

ArticleScientific reports2025

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG.

Renata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, Fabio Pettinato, Alessandro Barbato, Alfio Distefano, Enrico La Spina, Giuseppe Lazzarino, Giovanni Li Volti, Lucia Longhitano and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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

21 authors.

Renata Mangione *Departmental Faculty of Medicine, UniCamillus, Saint Camillus International University of Health and Medical Sciences, Via di S. Alessandro 8, 00131, Rome, Italy.
Lara Cirnigliaro *Child Neuropsychiatry- Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Miriam Wissam Saab *Department of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Fabio PettinatoChild Neuropsychiatry- Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Alessandro BarbatoDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Alfio DistefanoDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Enrico La SpinaDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Giuseppe LazzarinoLTA-Biotech srl, Viale Don Orione 3D, 95047, Paternò, Catania, Italy.
Giovanni Li VoltiDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Lucia LonghitanoDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Daniele TibulloDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Alessandra PittalàDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.
Cesarina GiallongoDepartment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, Via S. Sofia 87, 95123, Catania, Italy.
Valentina Di PietroNeuroscience and Ophthalmology, Department of Inflammation and Ageing, School of Infection, Inflammation and Immunology, College of Medicine and Health, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
Giovanni TabbiInstitute of Crystallography, National Council of Research (CNR), Via P. Gaifami 18, 95126, Catania, Italy.
Salvatore Antonio LongoLabogen sas, Via Dottor Consoli, 68, 95124, Catania, Italy.
Andrea GrazianiDepartmental Faculty of Medicine, UniCamillus, Saint Camillus International University of Health and Medical Sciences, Via di S. Alessandro 8, 00131, Rome, Italy.
Barbara TavazziDepartmental Faculty of Medicine, UniCamillus, Saint Camillus International University of Health and Medical Sciences, Via di S. Alessandro 8, 00131, Rome, Italy.
Angela Maria AmoriniDepartment of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Via S. Sofia 89, 95123, Catania, Italy. angela.amorini@unict.it.
Giacomo LazzarinoDepartmental Faculty of Medicine, UniCamillus, Saint Camillus International University of Health and Medical Sciences, Via di S. Alessandro 8, 00131, Rome, Italy. giacomo.lazzarino@unicamillus.org.
Rita BaroneChild Neuropsychiatry- Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 89, 95123, Catania, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients. Here, we quantified compounds connected to protein glycosylation (GDP-mannose, UDP-derivatives), energy metabolism (high-energy phosphates, nicotinic coenzymes, oxypurines), oxidative/nitrosative stress (GSH, nitrite, nitrate) and free amino acids in extracts of peripheral blood mononucleated cells (PBMCs), of seven PMM2-CDG patients and ten control healthy donors. Besides marked GDP-mannose decrease, PBMCs of PMM2-CDG patients had higher UDP-glucose (UDP-Glc), UDP-galactose (UDP-Gal) and UDP-Glucuronic levels, lower ATP, GTP and UTP levels, abnormal ATP/ADP, ATP/AMP and NAD

Indexed as

Congenital Disorders of GlycosylationLeukocytes, MononuclearMetabolomeMetabolomicsPhosphotransferases (Phosphomutases)AdolescentAdultCase-Control StudiesChildEnergy MetabolismFemaleHumansMalephosphomannomutase 2, humanPhosphotransferases (Phosphomutases)Energy metabolismHPLCPeripheral blood mononucleated cellsPhosphomannomutase2 deficiencyProtein glycosylationUDP-derivatives

Identifiers

PMID40335571
PMCPMC12059080

What Socratic holds

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LicenceCC BY-NC-ND
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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 Socratic graph.