The DOI matches its Crossref record; 104 of the 106 references it cites were found in a registry or an index.
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
Open accessAbstract
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. We highlight current AS model systems, epigenetic mechanisms of UBE3A regulation, and the identification of potential UBE3A substrates in the brain. In the process, we identify major gaps in our knowledge that, if bridged, could move us closer to identifying treatments for this debilitating neurodevelopmental disorder.
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“Similarly, paternal-specific deletion of multiple imprinted, paternally expressed genes on the 15q11–q13 region results in Prader–Willi syndrome, whereas maternal deletion of a single, imprinted, maternally expressed gene encoding a ubiquitin-protein ligase (UBE3A) on this same region gives rise to the Angelman syndrome phenotype.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [194]
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RING Domain E3 Ubiquitin Ligases
Deshaies, R. J., & Joazeiro, C. A. P. (2009) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.78.101807.093809 · Cited by 2,679
The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53
Scheffner, M., Huibregtse, J. M., Vierstra, R. D., & Howley, P. M. (1993) · Cell · doi:10.1016/0092-8674(93)90384-3 · Cited by 2,416
Regulation of parkinsonian motor behaviours by optogenetic control of basal ganglia circuitry
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Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
UBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Lyford, G. L., Yamagata, K., Kaufmann, W. E., Barnes, C. A., Sanders, L. K., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Lanahan, A. A., & Worley, P. F. (1995) · Neuron · doi:10.1016/0896-6273(95)90299-6 · Cited by 1,212
Physiological functions of the HECT family of ubiquitin ligases
Rotin, D., & Kumar, S. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2690 · Cited by 1,105
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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura, T., Sutcliffe, J. S., Fang, P., Galjaard, R. H., Jiang, Y., Benton, C. S., Rommens, J. M., & Beaudet, A. L. (1997) · Nature Genetics · doi:10.1038/ng0197-74 · Cited by 858
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King, I. F. G., Yandava, C., Mabb, A. M., Hsiao, J. S., Huang, H., Pearson, B. L., Calabrese, J. M., Starmer, J., Parker, J. S., Magnuson, T., et al. (2013) · Nature · doi:10.1038/nature12504 · Cited by 430
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Metadata
- Authors
- Mabb, A. M., Judson, M. C., Zylka, M. J., & Philpot, B. D.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- Corresponding author
- Zylka, Mark J.
- Philpot, Benjamin D.
- Venue
- Trends in Neurosciences
- Publisher
- Elsevier BV
- Published
- 2011-06
- Volume
- 34
- Issue
- 6
- Pages
- 293-303
- ISSN
- 0166-2236 (ISSN-L)
- PMC
- PMC3116240
- OpenAlex
- W1973485468
- Cited by
- 263
- References
- 106
- Citations by year
- 2026: 9 · 2025: 10 · 2024: 15 · 2023: 15 · 2022: 9 · 2021: 9 · 2020: 21 · 2019: 17 · 2018: 9 · 2017: 15 · 2016: 21 · 2015: 26 · 2014: 31 · 2013: 30 · 2012: 22
- FWCI
- 2.95
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Trends in Neurosciences (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Eye Institute (R01EY018323)
- National Institute of Neurological Disorders and Stroke (R01NS060725, R01NS067688, F32NS067712)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Angelman syndrome, genomic imprinting, UBE3A, E3 ubiquitin ligase, neurodevelopmental disorders, epigenetic regulation
- MeSH terms
- Animals, Brain, Gene Expression Regulation, Humans, Phenotype, Gene Expression, Angelman Syndrome, Genomic Imprinting, Ubiquitin-Protein Ligases, Mice
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