UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects
Taken together, these findings demonstrate that the loss of UBE3A protein is the primary factor underlying AS phenotypes in this mICD/UPD mouse model of AS, while the biallelic expressed genes in this locus play either a marginal or yet unidentified role. These findings also corroborate UBE3A reinstatement as an attractive therapeutic strategy for AS individuals carrying an mICD or UPD mutation.
Authors
- Roos Monshouwer
- Claudia Milazzo
- Sabrina Golling
- Edwin Mientjes (ORCID: https://orcid.org/0000-0002-6700-9259)
- Shengzhou Wang
- Stormy J. Chamberlain (ORCID: https://orcid.org/0000-0003-4720-9680)
- Ramanathan Narayanan (ORCID: https://orcid.org/0000-0003-4456-5241)
- Manuel Tzouros (ORCID: https://orcid.org/0000-0002-6782-5520)
- Solveig Badillo (ORCID: https://orcid.org/0000-0002-7563-111X)
- Ype Elgersma (ORCID: https://orcid.org/0000-0002-3758-1297)
- Thomas Kremer (ORCID: https://orcid.org/0000-0002-5999-5183)
- Rosaisela Almand
Institutions
- Roche (Switzerland) (CH)
- Erasmus MC (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Molecular Autism
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1186/s13229-025-00675-z
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Angelman Syndrome Foundation
- F. Hoffmann-La Roche