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Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.

Trends in neurosciences - 1 Jun 2011

Mabb Angela M, Judson Matthew C, Zylka Mark J, Philpot Benjamin D

Abstract excerpt

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...

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Angelman Syndrome
Brain
Gene Expression
Gene Expression Regulation
Genomic Imprinting

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Ubiquitin-Protein Ligases

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PMID: 21592595
DOI: 10.1016/j.tins.2011.04.001
PMCID: PMC3116240

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