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Mutation of HERC2 causes developmental delay with Angelman-like features.
|Title||Mutation of HERC2 causes developmental delay with Angelman-like features.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJG, Chioza BA, Scheffner M, Rosa JL, Crosby AH|
|Journal||Journal of medical genetics|
|Date Published||2013 Feb|
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.
|Alternate Journal||J. Med. Genet.|