Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome-Reference-Cited by-同舟云学术

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

Published:2019-06-24 Issue:8 Volume:22 Page:1235-1247
ISSN:1097-6256
Container-title:Nature Neuroscience
language:en
Short-container-title:Nat Neurosci

Author:

Avagliano Trezza Rossella,Sonzogni Monica^ORCID,Bossuyt Stijn N. V.^ORCID,Zampeta F. Isabella,Punt A. Mattijs^ORCID,van den Berg Marlene,Rotaru Diana C.^ORCID,Koene Linda M. C.,Munshi Shashini T.,Stedehouder Jeffrey,Kros Johan M.,Williams Mark^ORCID,Heussler Helen,de Vrij Femke M. S.^ORCID,Mientjes Edwin J.,van Woerden Geeske M.,Kushner Steven A.^ORCID,Distel Ben^ORCID,Elgersma Ype^ORCID

Publisher

Springer Science and Business Media LLC

Subject

General Neuroscience

Link

http://www.nature.com/articles/s41593-019-0425-0.pdf

Reference58 articles.

1. LaSalle, J. M., Reiter, L. T. & Chamberlain, S. J. Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders. Epigenomics 7, 1213–1228 (2015).

2. Sell, G. L. & Margolis, S. S. From UBE3A to Angelman syndrome: a substrate perspective. Front. Neurosci. 9, 322 (2015).

3. Scheffner, M. & Kumar, S. Mammalian HECT ubiquitin-protein ligases: biological and pathophysiological aspects. Biochim. Biophys. Acta 1843, 61–74 (2014).

4. Judson, M. C. et al. GABAergic neuron-specific loss of Ube3a causes Angelman syndrome-like EEG abnormalities and enhances seizure susceptibility. Neuron 90, 56–69 (2016).

5. Li, W. et al. Angelman syndrome protein Ube3a regulates synaptic growth and endocytosis by inhibiting BMP signaling in Drosophila. PLoS Genet. 12, e1006062 (2016).

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