The identification of a regulatory site on the UBE3A protein that can be phosphorylated to alter its enzymatic activity provides insight into the aetiology of two human neurodevelopmental diseases, Angelman syndrome and autism.
This is a preview of subscription content, log in via an institution to check access.
Notes
References
Angelman, H. Dev. Med. Child Neurol. 7, 681–688 (1965).
Williams, C. A. Am. J. Med. Genet. C 154C, 432–437 (2010).
Kishino, T., Lalande, M. & Wagstaff, J. Nature Genet. 15, 70–73 (1997).
Noor, A. et al. Hum. Mutat. 36, 689–693 (2015).
Yi, J. J. et al. Cell 162, 795–807 (2015).
Albrecht, U. et al. Nature Genet. 17, 75–78 (1997).
Urraca, N. et al. Autism Res. 6, 268–279 (2013).
Hogart, A., Wu, D., LaSalle, J. M. & Schanen, N. C. Neurobiol. Dis. 38, 181–191 (2010).
Silva-Santos, S. et al. J. Clin. Invest. 125, 2069–2076 (2015).
Scheffner, M., Huibregtse, J. M., Vierstra, R. D. & Howley, P. M. Cell 75, 495–505 (1993).
Munakata, T. et al. PLoS Pathog. 3, 139 (2007).
Louria-Hayon, I. et al. Cell Death Differ. 16, 1156–1166 (2009).
hnle, S. et al. J. Biol. Chem. 286, 19410–19416 (2011).
Author information
Authors and Affiliations
Corresponding author
Related links
Rights and permissions
About this article
Cite this article
Elgersma, Y. A molecular tightrope. Nature 526, 50–51 (2015). https://doi.org/10.1038/526050b
Published:
Issue Date:
DOI: https://doi.org/10.1038/526050b
- Springer Nature Limited