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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Cell
Päätekijät: Yi, Jason J., Berrios, Janet, Newbern, Jason M., Snider, William D., Philpot, Benjamin D., Hahn, Klaus M., Zylka, Mark J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2015
Aiheet:
Linkit: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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