ArticleEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2012
Spatial and temporal silencing of the human maternal UBE3A gene.
Article in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.Frontiers in neuroanatomy · 2024Article
- Review
- Novel Insights into the Role of UBE3A in Regulating Apoptosis and Proliferation.Journal of clinical medicine · 2020Article
- Spaced training improves learning in Ts65Dn and Ube3a mouse models of intellectual disabilities.Translational psychiatry · 2019Article
- Subcellular organization of UBE3A in human cerebral cortex.Molecular autism · 2018Article
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- E6AP in the brain: one protein, dual function, multiple diseases.Molecular neurobiology · 2014Article
- Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model.Learning & memory (Cold Spring Harbor, N.Y.) · 2014Article
- Disruption of the LTD dialogue between the cerebellum and the cortex in Angelman syndrome model: a timing hypothesis.Frontiers in systems neuroscience · 2014Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
Angelman syndrome (AS) is characterized by severe cognitive disruption, seizures, difficulty speaking and ataxia. Nearly all cases are attributed to the disruption or absence of the imprinted maternal copy of UBE3A, transcribing an E3-type ubiquitin ligase. Much of what is known about the molecular and biochemical changes in the CNS associated with AS has been obtained through this murine model. This widely used mouse model created by a null mutation of the maternal UBE3A gene recapitulates the major phenotypes characteristic of AS patients. The imprinting of maternal UBE3A was originally believed to be brain region specific; however recent reports using the AS mouse model have revealed a more wide-spread absence of the protein. The present study is the first to determine that the Ube3a protein ablation seen in the AS mouse model is also characteristic of AS patients and the silencing of the paternal UBE3A allele appears to be lifelong.
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