ArticleProceedings of the National Academy of Sciences of the United States of America2008
A Drosophila model for Angelman syndrome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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61 citing papers in PubMed, 101 citations in OpenAlex.
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- The ubiquitin-proteasome system in circadian regulation.Frontiers in neuroscience · 2025Review
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
- Modeling neurodegenerative and neurodevelopmental disorders in theLearning & memory (Cold Spring Harbor, N.Y.) · 2024Review
- Stem cell models of Angelman syndrome.Frontiers in cell and developmental biology · 2023Review
- Effects of valproate on seizure-like activity inEpilepsy & behavior reports · 2023Article
- Death of a Protein: The Role of E3 Ubiquitin Ligases in Circadian Rhythms of Mice and Flies.International journal of molecular sciences · 2022Review
- Synaptic dysfunction connects autism spectrum disorder and sleep disturbances: A perspective from studies in model organisms.Sleep medicine reviews · 2022Review
- The gut-microbiota-brain axis in autism: what Drosophila models can offer?Journal of neurodevelopmental disorders · 2021Review
- Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Angelman syndrome and melatonin: What can they teach us about sleep regulation.Journal of pineal research · 2020Review
- Investigating Developmental and Epileptic Encephalopathy UsingInternational journal of molecular sciences · 2020Review
- Daughterless, theDisease models & mechanisms · 2020Article
- Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development.PLoS genetics · 2020Article
- NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.PLoS genetics · 2020Article
- Autism Spectrum Disorder-Related Syndromes: Modeling withInternational journal of molecular sciences · 2019Review
- Circadian biology and sleep in monogenic neurological disorders and its potential application in drug discovery.Current opinion in behavioral sciences · 2019Article
- Angelman syndrome-associated point mutations in the ZnThe Journal of biological chemistry · 2018Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
Abstract
Angelman syndrome is a neurological disorder whose symptoms include severe mental retardation, loss of motor coordination, and sleep disturbances. The disease is caused by a loss of function of UBE3A, which encodes a HECT-domain ubiquitin ligase. Here, we generate a Drosophila model for the disease. The results of several experiments show that the functions of human UBE3A and its fly counterpart, dube3a, are similar. First, expression of Dube3a is enriched in the Drosophila nervous system, including mushroom bodies, the seat of learning and memory. Second, we have generated dube3a null mutants, and they appear normal externally, but display abnormal locomotive behavior and circadian rhythms, and defective long-term memory. Third, flies that overexpress Dube3a in the nervous system also display locomotion defects, dependent on the ubiquitin ligase activity. Finally, missense mutations in UBE3A alleles of Angelman syndrome patients alter amino acid residues conserved in the fly protein, and when introduced into dube3a, behave as loss-of-function mutations. The simplest model for Angelman syndrome is that in the absence of UBE3A, particular substrates fail to be ubiquitinated and proteasomally degraded, accumulate in the brain, and interfere with brain function. We have generated flies useful for genetic screens to identify Dube3a substrates. These flies overexpress Dube3a in the eye or wing and display morphological abnormalities, dependent on the critical catalytic cysteine. We conclude that dube3a mutants are a valid model for Angelman syndrome, with great potential for identifying the elusive UBE3A substrates relevant to the disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.