Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.

Florence Authier; Asad Jan; Islam Faress; Christian Stald Skoven; Iria Esperon-Abril; Shagana Tharmakulasingam Balasubramaniam; Kévin-Sébastien Coquelin; Jens R Nyengaard; Carsten Scavenius; Benedetta Attianese; Oscar G Sevillano-Quispe; Simon Fristed Eskildsen; Jesper Skovhus Thomsen; Brian Hansen; Daan M F van Aalten

doi:10.7554/elife.107170

SCHEDA SCIENTIFICA2026Altra ricerca

Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.

Florence Authier, Asad Jan, Islam Faress, Christian Stald Skoven, Iria Esperon-Abril, Shagana Tharmakulasingam Balasubramaniam, Kévin-Sébastien Coquelin, Jens R Nyengaard, Carsten Scavenius, Benedetta Attianese, Oscar G Sevillano-Quispe, Simon Fristed Eskildsen, Jesper Skovhus Thomsen, Brian Hansen, Daan M F van Aalten

eLife · 2026

Neuroscienze Psicologia dello sviluppo

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Parole chiave

AnimalsN-AcetylglucosaminyltransferasesMiceAcetylglucosamineHyperkinesisDisease Models, AnimalMalformations of Cortical DevelopmentIntellectual DisabilityO-GlcNAcO-glycosylationbehaviourcortical dysplasiaintellectual disabilitymouseneurodevelopmentneuroscience

Come citare questo studio

Florence Authier, Asad Jan, Islam Faress, Christian Stald Skoven, Iria Esperon-Abril, Shagana Tharmakulasingam Balasubramaniam, Kévin-Sébastien Coquelin, Jens R Nyengaard, Carsten Scavenius, Benedetta Attianese, Oscar G Sevillano-Quispe, Simon Fristed Eskildsen, Jesper Skovhus Thomsen, Brian Hansen, Daan M F van Aalten. (2026). Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.. eLife. DOI: 10.7554/elife.107170

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