ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2013
The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 52 citations in OpenAlex.
- Review
- A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternalFrontiers in cell and developmental biology · 2025Article
- Golgi pH homeostasis stabilizes the lysosomal membrane throughLife science alliance · 2024Article
- GGA1 interacts with the endosomal Na+/H+ exchanger NHE6 governing localization to the endosome compartment.The Journal of biological chemistry · 2024Article
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.Diseases (Basel, Switzerland) · 2023Review
- Article
- Intracellular traffic and polarity in brain development.Frontiers in neuroscience · 2023Review
- Mitotic phosphorylation inhibits the Golgi mannosidase MAN1A1.Cell reports · 2022Article
- Article
- The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions.Frontiers in molecular neuroscience · 2019Review
- Subcellular organization of UBE3A in human cerebral cortex.Molecular autism · 2018Article
- Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.PloS one · 2018Article
- Loss of the NaThe Journal of biological chemistry · 2017Article
- Golgi apparatus self-organizes into the characteristic shape via postmitotic reassembly dynamics.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Subcellular organization of UBE3A in neurons.The Journal of comparative neurology · 2017Article
- Live-cell Microscopy and Fluorescence-based Measurement of Luminal pH in Intracellular Organelles.Frontiers in cell and developmental biology · 2017Article
- Golgi structure formation, function, and post-translational modifications in mammalian cells.F1000Research · 2017Review
- Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.Journal of medical genetics · 2016Article
- Of mothers and myelin: Aberrant myelination phenotypes in mouse model of Angelman syndrome are dependent on maternal and dietary influences.Behavioural brain research · 2015Article
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5 authors at 3 institutions in 1 country.
Funding
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 (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.
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