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An autism-linked mutation disables phosphorylation control of UBE3A
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS) while duplication or triplication of UBE3A is linked to autism. These genetic findings suggest that the ubiquitin ligase activity of UBE3A must be tightly maintained to promote normal brain development. Here, we found th...
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| Publicado no: | Cell |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4537845/ https://ncbi.nlm.nih.gov/pubmed/26255772 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2015.06.045 |
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