Angelman syndrome: Drugs to awaken a paternal gene.
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- Record sourced from PubMed, PMID 22190038.
- Also identified by DOI 10.1038/nature10784 and PMC identifier PMC3222728.
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Abstract
Mutations in the maternal copy of the UBE3A gene cause a neurodevelopmental disorder known as Angelman syndrome. Drugs that activate the normally silenced paternal copy of this gene may be of therapeutic value.