Article
Mutation of HERC2 causes developmental delay with Angelman-like features.
Journal of medical genetics - 1 Feb 2013
Harlalka Gaurav V, Baple Emma L, Cross Harold, Kühnle Simone, Cubillos-Rojas Monica, Matentzoglu Konstantin, Patton Michael A, Wagner Karin, Coblentz Roselyn, Ford Debra L, Mackay Deborah J G, Chioza Barry A, Scheffner Martin, Rosa Jose Luis, Crosby Andrew H
Abstract excerpt
BACKGROUND: Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin ligase HERC2, encoded by the HERC2 gene is thought to be a key regulator of E6AP. METHODS AND RESULTS: Using a combination of autozygosity mapping and linkage analysis, we studied an autosomal-recessive neurodevelopmental disorder with some...
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