Cited by 263Genetic Syndromes and ImprintingGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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Mabb, Angela M., Judson, Matthew C., Zylka, Mark J., Philpot, Benjamin D.·2011·Trends in Neurosciences

DOI 10.1016/j.tins.2011.04.001PMC PMC3116240

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Abstract

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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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.
ORCID: Mabb, Angela M.
Judson, Matthew C.
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)
DOI: 10.1016/j.tins.2011.04.001
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

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