Evidence map›Paper›PMID 41159851›Full record

ArticleThe FEBS journal2026

Zebrafish as a model for Catel-Manzke syndrome-identification and characterization of the zebrafish TGDS ortholog.

Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata and 2 more

Abstract read
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Article in The FEBS journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Maria Rosaria CoppolaDepartment of Experimental Medicine, University of Genova, Italy.ORCID 0000-0003-1151-1810
Deianira BellittoDepartment of Earth, Environment and Life Sciences, University of Genova, Italy.ORCID 0000-0002-7972-6634
Erfan AsgariDepartment of Experimental Medicine, University of Genova, Italy.ORCID 0009-0001-3986-328X
Virginia BazzurroDepartment of Earth, Environment and Life Sciences, University of Genova, Italy.ORCID 0000-0002-9948-0467
Giorgia CasucciDepartment of Experimental Medicine, University of Genova, Italy.ORCID 0009-0003-8265-4162
Francesco PiacenteDepartment of Experimental Medicine, University of Genova, Italy.ORCID 0000-0001-5470-5987
Matteo BozzoDepartment of Earth, Environment and Life Sciences, University of Genova, Italy.ORCID 0000-0002-7452-3758
Davide CeresaDepartment of Experimental Medicine, University of Genova, Italy.ORCID 0000-0002-2833-4024
Costantino ParisiInternational Institute for Cell and Molecular Biology, Warsaw, Poland.ORCID 0000-0001-7438-8034
Cecilia WinataInternational Institute for Cell and Molecular Biology, Warsaw, Poland.ORCID 0000-0002-7718-5248
Simona CandianiDepartment of Earth, Environment and Life Sciences, University of Genova, Italy.ORCID 0000-0002-4453-5475
Michela TonettiDepartment of Experimental Medicine, University of Genova, Italy.ORCID 0000-0002-8829-7173

Funding

Fondazione Telethon GMR22T1065Ministero dell'Università e della Ricerca PRIN 2022 - grant 22ETJJES
6 · The paper itself

Abstract

Catel-Manzke syndrome (CMS) is a rare genetic disorder associated with mutations in the TDP-glucose 4,6-dehydratase (TGDS) gene, the function of which in vertebrates remains unclear. This study investigated the zebrafish ortholog tgds to assess its suitability for modeling the disease. During development, the tgds transcript exhibits a conserved biphasic expression pattern with an initial maternal contribution followed by a second wave of expression after gastrulation. Recombinant zebrafish Tgds expressed in Escherichia coli demonstrated UDP-D-glucose 4,6-dehydratase (EC4.2.1.76) activity, similar to TGDS orthologs in lower eukaryotes, where it acts as the first step in the L-rhamnose biosynthetic pathway. This finding suggests the presence of a yet unidentified pathway in vertebrates. Furthermore, CMS-associated mutations in conserved residues significantly impair enzyme activity and stability. CRISPR/Cas9-mediated F

Indexed as

ZebrafishZebrafish ProteinsAnimalsCRISPR-Cas SystemsDisease Models, AnimalGene Expression Regulation, DevelopmentalHumansMutationZebrafish ProteinsCatel–Manzke syndromecraniofacial developmentCRISPR/Cas9TGDSzebrafish

Identifiers

PMID41159851
PMCPMC13080230

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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.