Evidence map›Paper›PMID 40943189›Full record

ArticleInternational journal of molecular sciences2025

Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.

María Arnedo, David Ros-Pardo, Beatriz Puisac, Cristina Lucia-Campos, Marta Gil-Salvador, Ana Latorre-Pellicer, Íñigo Marcos-Alcalde, Juan Pié, Paulino Gómez-Puertas

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. 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

9 authors.

María ArnedoUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.ORCID 0000-0001-9962-2157
David Ros-PardoMolecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, C/ Nicolás Cabrera 1, 28049 Madrid, Spain.ORCID 0000-0002-8934-8585
Beatriz PuisacUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.ORCID 0000-0003-0170-7326
Cristina Lucia-CamposUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.
Marta Gil-SalvadorUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.ORCID 0000-0001-6858-1575
Ana Latorre-PellicerUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.ORCID 0000-0002-4703-6620
Íñigo Marcos-AlcaldeMolecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, C/ Nicolás Cabrera 1, 28049 Madrid, Spain.ORCID 0000-0002-0674-6423
Juan PiéUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.ORCID 0000-0003-3203-6254
Paulino Gómez-PuertasMolecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, C/ Nicolás Cabrera 1, 28049 Madrid, Spain.ORCID 0000-0003-3131-729X

Funding

Diputación General de Aragón-FEDER: European Social Fund Reference Group B32_20RMinisterio de Ciencia, Innovación y Universidades PID2021-126625OB-I00/10.13039/501100011033/ FEDER, EU
6 · The paper itself

Abstract

Human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMG-CoA synthase, mHS) synthase is a key enzyme in ketogenesis and is located mainly in the liver, but also in the colon, skeletal muscle, heart, pancreas, and testes. It is an inner mitochondrial membrane-associated protein. Mutations in the

Indexed as

Hydroxymethylglutaryl-CoA SynthaseMitochondriaMutation, MissenseHumansLigandsMolecular Dynamics SimulationProtein BindingHMGCS2 protein, humanHydroxymethylglutaryl-CoA SynthaseLigandsHMG-CoA synthasemHS deficiencymHS STAG2molecular modelingvariant rationalization

Identifiers

PMID40943189
PMCPMC12428298

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.