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September 5, 2025Molecular AutismOpen Access

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects

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Authors

CMClaudia MilazzoRNRamanathan NarayananSBSolveig Badillo

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Overview

Research reveals UBE3A reinstatement significantly improves behavior and proteome in mouse models of Angelman syndrome, suggesting new therapeutic strategies.

Key Points

  • UBE3A reinstatement in mICD mice fully rescues behavioral phenotypes and proteome alterations associated with Angelman syndrome.
  • mICD mice exhibited an 80% reduction in UBE3A protein, leading to severe behavioral deficits and proteome changes.
  • Using antisense oligonucleotide treatment in mice activated UBE3A, resulting in partial behavioral recovery.
  • Findings indicate UBE3A loss is the primary factor in Angelman syndrome phenotypes, highlighting potential therapeutic avenues.

Cite This Study

Milazzo et al. (2025) studied this question.

synapsesocial.com/papers/68c238d2b210217d64778ef7https://doi.org/10.1186/s13229-025-00675-z
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Cell type-specific contributions of UBE3A to Angelman syndrome behavioral phenotypes2025 · 2 citations
  2. 2Dysregulation of Neuronal Activity‐Dependent Immediate Early Genes in a Mouse Model of Angelman Syndrome2025
  3. 3Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome2025
  4. 4A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal UBE3A reporter2025
  5. 5A Human Angelman Syndrome Class II Pluripotent Stem Cell line with Fluorescent Paternal UBE3A Reporter2025