RGD Reference Report - The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation. - Rat Genome Database

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The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.

Authors: Condon, Kathryn H  Ho, Jianghai  Robinson, Camenzind G  Hanus, Cyril  Ehlers, Michael D 
Citation: Condon KH, etal., J Neurosci. 2013 Feb 27;33(9):3799-814. doi: 10.1523/JNEUROSCI.1930-11.2013.
RGD ID: 15023469
Pubmed: PMID:23447592   (View Abstract at PubMed)
PMCID: PMC3783510   (View Article at PubMed Central)
DOI: DOI:10.1523/JNEUROSCI.1930-11.2013   (Journal Full-text)

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 (UBE3A(m-/p+)) mice. In Ube3a knockdown cell lines and UBE3A(m-/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.



Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Ube3aRatpositive regulation of Golgi lumen acidification involved_inIMP PMID:23447592CACAO 

Objects Annotated

Genes (Rattus norvegicus)
Ube3a  (ubiquitin protein ligase E3A)


Additional Information