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Featured ArticleArticles, Neurobiology of Disease

The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation

Kathryn H. Condon, Jianghai Ho, Camenzind G. Robinson, Cyril Hanus and Michael D. Ehlers
Journal of Neuroscience 27 February 2013, 33 (9) 3799-3814; DOI: https://doi.org/10.1523/JNEUROSCI.1930-11.2013
Kathryn H. Condon
1Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, and
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Jianghai Ho
1Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, and
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Camenzind G. Robinson
1Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, and
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Cyril Hanus
1Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, and
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Michael D. Ehlers
1Department of Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, and
2Pfizer Worldwide Research and Development, Neuroscience Research Unit, Cambridge, Massachusetts 02139
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Abstract

Angelman syndrome (AS) is a severe disorder of postnatal brain development caused by neuron-specific loss of the HECT (homologous to E6AP carboxy terminus) domain E3 ubiquitin ligase Ube3a/E6AP. The cellular role of Ube3a remains enigmatic despite recent descriptions of synaptic and behavioral deficits in AS mouse models. Although neuron-specific imprinting is thought to limit the disease to the brain, Ube3a is expressed ubiquitously, suggesting a broader role in cellular function. In the current study, we demonstrate a profound structural disruption and cisternal swelling of the Golgi apparatus (GA) in the cortex of AS (UBE3Am−/p+) mice. In Ube3a knockdown cell lines and UBE3Am−/p+ cortical neurons, the GA is severely under-acidified, leading to osmotic swelling. Both in vitro and in vivo, the loss of Ube3a and corresponding elevated pH of the GA is associated with a marked reduction in protein sialylation, a process highly dependent on intralumenal Golgi pH. Altered ion homeostasis of the GA may provide a common cellular pathophysiology underlying the diverse plasticity and neurodevelopmental deficits associated with AS.

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The Journal of Neuroscience: 33 (9)
Journal of Neuroscience
Vol. 33, Issue 9
27 Feb 2013
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The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation
Kathryn H. Condon, Jianghai Ho, Camenzind G. Robinson, Cyril Hanus, Michael D. Ehlers
Journal of Neuroscience 27 February 2013, 33 (9) 3799-3814; DOI: 10.1523/JNEUROSCI.1930-11.2013

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The Angelman Syndrome Protein Ube3a/E6AP Is Required for Golgi Acidification and Surface Protein Sialylation
Kathryn H. Condon, Jianghai Ho, Camenzind G. Robinson, Cyril Hanus, Michael D. Ehlers
Journal of Neuroscience 27 February 2013, 33 (9) 3799-3814; DOI: 10.1523/JNEUROSCI.1930-11.2013
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