Evidence map›Paper›PMID 42209020›Full record

ArticleeNeuro2026

Genetic Rescue of Pathogenic O-GlcNAc Dyshomeostasis Associated with Microcephaly and Motor Deficits.

Florence Authier, Iria Esperon-Abril, Kévin-Sébastien Coquelin, Christian Stald Skoven, Simon Fristed Eskildsen, Nina Ondruskova, Andrew T Ferenbach, Jesper Skovhus Thomsen, Brian Hansen, Daan M F van Aalten

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Article in eNeuro, 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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0cells of the map it votes in
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

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

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

10 authors.

Florence AuthierSection for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark.
Iria Esperon-AbrilSection for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark.
Kévin-Sébastien CoquelinSection for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark.
Christian Stald SkovenCFIN, Aarhus Hospital, 8200 Aarhus N, Denmark.ORCID 0000-0002-0639-6718
Simon Fristed EskildsenCFIN, Aarhus Hospital, 8200 Aarhus N, Denmark.
Nina OndruskovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, 128 08 Praha 2, Czech Republic.
Andrew T FerenbachSection for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark.
Jesper Skovhus ThomsenDepartment of Biomedicine, Aarhus University, 8000 Aarhus, Denmark.
Brian HansenCFIN, Aarhus Hospital, 8200 Aarhus N, Denmark.
Daan M F van AaltenSection for Neurobiology and DANDRITE, Department of Molecular Biology and Genetics, Aarhus University, 8000 Aarhus, Denmark daan@mbg.au.dk.ORCID 0000-0002-1499-6908

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Missense variants in O-GlcNAc transferase (OGT) result in OGT congenital disorder of glycosylation (OGT-CDG), an intellectual disability syndrome associated with O-GlcNAc dyshomeostasis and a range of neurodevelopmental defects. Inhibition of O-GlcNAcase (OGA), the enzyme responsible for removing protein O-GlcNAcylation, has been explored as a target for modulating brain O-GlcNAc homeostasis in neurodegenerative diseases and may also be a target for OGT-CDG. Here, we describe an OGT-CDG mouse line, studied in male mice, that exhibits microcephaly, motor deficits, and brain O-GlcNAc dyshomeostasis, closely mirroring patient symptoms. We genetically explored OGA as a target for OGT-CDG by crossing these mice with a line carrying catalytically inactive OGA. Encouragingly, this partially restored O-GlcNAc homeostasis in brain and blood as determined by

Indexed as

AcetylglucosamineCongenital Disorders of GlycosylationMicrocephalyN-AcetylglucosaminyltransferasesAnimalsbeta-N-AcetylhexosaminidasesBrainDisease Models, AnimalHomeostasisMaleMiceMice, TransgenicAcetylglucosaminebeta-N-AcetylhexosaminidasesN-AcetylglucosaminyltransferasesO-GlcNAc transferaseintellectual disabilitymouse modelneurodevelopmentneuroscienceO-GlcNAcOGT-CDG

Identifiers

PMID42209020
PMCPMC13240978

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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.