Evidence map›Paper›PMID 41153421›Full record

ArticleGenes2025

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele,

Joseph R Figura, Presley Roberts, Riley Sawka, Maci Chambers, Marcelo Claudio, Laura L Vollmer, Andreas Vogt, Gregg E Homanics, Eduard van Beers, Mylene Donge and 5 more

Abstract readCase Reports
In one paragraph

Article in Genes, 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

15 authors.

Joseph R FiguraDepartment of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.ORCID 0009-0005-2669-4789
Presley RobertsDepartment of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.ORCID 0009-0001-3211-7815
Riley SawkaDepartment of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.ORCID 0009-0001-0037-8455
Maci ChambersDepartment of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.
Marcelo ClaudioDepartment of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.
Laura L VollmerDepartment of Computational & Systems Biology, Organ Pathobiology and Therapeutics Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.
Andreas VogtDepartment of Computational & Systems Biology, Organ Pathobiology and Therapeutics Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.ORCID 0000-0001-6846-9292
Gregg E HomanicsDepartment of Anesthesiology and Perioperative Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA.ORCID 0000-0003-3641-8153
Eduard van BeersDepartment of Haematology, Center for Benign Haematology, Thrombosis and Haemostasis, University Medical Centre, 3511 ZK Utrecht, The Netherlands.
Mylene DongePediatric Neurology Unit, Department of Pediatrics, Centre Hospitalier de Luxembourg, L-1210 Luxembourg, Luxembourg.
Emmanuel ScalaisPediatric Neurology Unit, Department of Pediatrics, Centre Hospitalier de Luxembourg, L-1210 Luxembourg, Luxembourg.
Arthur SorlinService de Génétique Clinique, National Center of Genetics (NCG), Laboratoire National de Santé, L-3555 Dudelange, Luxembourg.ORCID 0000-0001-8008-9145
Ariana J JouDepartment of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA.ORCID 0009-0009-4306-3427
Andrew P VanDemarkDepartment of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA.ORCID 0000-0003-3424-4831
Michael J PalladinoDepartment of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

Funding

High-content screening for TPI Deficiency therapeuticsR01HD104346 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI PALLADINO, MICHAEL JOHN, VOGT, ANDREAS · 2021 to 2025
$2.8M
Developing the first TPI Df therapeuticsR01HD105311 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI PALLADINO, MICHAEL JOHN, VOGT, ANDREAS · 2021 to 2025
$2.7M
Opera Phenix High-Content Imaging System for Drug DiscoveryS10OD028450 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI TAYLOR, D. LANSING · 2020 to 2020
$1.0M
NICHD NIH HHS R01 HD104346NICHD NIH HHS R01 HD105311NIH HHS 1R01HD104346-05NIH HHS 1R01HD105311-05NIH HHS 1S10OD028450-03NIH HHS S10 OD028450TPI Deficiency Research Fund MJP-01
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Carbohydrate Metabolism, Inborn ErrorsTriose-Phosphate IsomeraseAllelesAnemia, Hemolytic, Congenital NonspherocyticHumansMutation, MissenseTriose-Phosphate Isomerasebiochemistrygeneticsglycolytic dysfunctionmetabolismpediatric diseasesmall molecule therapytriosephosphate isomerase (TPI)

Identifiers

PMID41153421
PMCPMC12562503

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.