Article
Ube3a/E6AP is involved in a subset of MeCP2 functions.
Biochemical and biophysical research communications - 19 Jul 2013
Kim Soeun, Chahrour Maria, Ben-Shachar Shay, Lim Janghoo
Abstract excerpt
Rett syndrome (RTT) and Angelman syndrome (AS) are devastating neurological disorders that share many clinical features. The disease-causing mutations have been identified for both syndromes. Mutations in Methyl-CpG Binding Protein 2 (MECP2) are found in a majority of patients with classical RTT while absence of maternal allele or intragenic mutation in the maternal copy of UBE3A gene encoding the human papilloma...
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