Article

SUBCELLULAR FUNCTIONS OF <i>UBE3A</i> ISOFORMS DRIVE SYNAPTIC DYSFUNCTION IN ANGELMAN SYNDROME

2026-03-26

Abstract excerpt

<h4>ABSTRACT</h4> Genetic defects of the gene encoding the ubiquitin ligase UBE3A cause a severe neurodevelopmental disorder, the Angelman syndrome (AS). The pathophysiology of AS remains unclear, hindering the development of effective therapies. Using AS animal models, we show here that UBE3A controls the development of excitatory and distinct subtypes of inhibitory synapses in cortical pyramidal neurons through...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: df8d3d98-cff4-5676-b3f1-5f3d40de9a1d
DOI: 10.64898/2026.03.24.713622

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SUBCELLULAR FUNCTIONS OF <i>UBE3A</i> ISOFORMS DRIVE SYNAPTIC DYSFUNCTION IN ANGELMAN SYNDROMEDOI 10.64898/2026.03.24.713622Read

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.Semantic proximity Read

Abundance and localization of human UBE3A protein isoformsSemantic proximity Read

Abundance and localization of human UBE3A protein isoforms.Semantic proximity Read

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Semantic proximity Read

Angelman Syndrome causing UBE3A ligase displays predominantly synaptic ubiquitination activity in the mouse brainSemantic proximity Read

Deleting a UBE3A substrate rescues impaired hippocampal physiology and learning in Angelman syndrome miceSemantic proximity Read

Angelman Syndrome: From Mouse Models to Therapy.Semantic proximity Read

Loss of <i>UBE3A</i> impacts both neuronal and non-neuronal cells in human cerebral organoidsSemantic proximity Read

Angelman Syndrome.Semantic proximity Read

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q-Associated Autism PhenotypesSemantic proximity Read

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neuronsSemantic proximity Read

Human Cerebral Organoids Reveal Early Spatiotemporal Dynamics and Pharmacological Responses of UBE3ASemantic proximity Read