Article
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
Nature - 19 Feb 2015
Meng Linyan, Ward Amanda J, Chun Seung, Bennett C Frank, Beaudet Arthur L, Rigo Frank
Abstract excerpt
Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia. It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase. All patients carry at least one copy of paternal UBE3A, which is intact but silenced by a nuclear-localized long non-coding RNA, UBE3A antisense...
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