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Genetic aberrations of the UBE3A gene encoding the E3 ubiquitin ligase E6AP underlie the development of Angelman syndrome (AS). Approximately 10 percent of AS individuals harbor UBE3A genes with point mutations, frequently resulting in the expression of full-length E6AP variants with defective E3 ac...
ORGANISM(S): Homo sapiens (Human) 
2020-09-28 | PXD020602 | Pride
Genetic aberrations of the maternal UBE3A allele, which encodes the E3 ubiquitin ligase E6AP, are the cause of Angelman syndrome (AS), an imprinting disorder. In most cases, the maternal UBE3A allele is not expressed. Yet, approximately 10 percent of AS individuals harbor distinct point mutations in...
ORGANISM(S): Homo sapiens (Human) 
2024-05-09 | PXD048963 | Pride
Deregulation of the ubiquitin ligase E6AP is causally linked to the development of human disease, including cervical cancer. In complex with the E6 oncoprotein of human papillomaviruses, E6AP targets the tumor suppressor p53 for degradation, thereby contributing to carcinogenesis. Moreover, E6 acts ...
ORGANISM(S): Human papillomavirus type 16 Homo sapiens (Human) 
2018-10-23 | PXD010002 | Pride
E6AP/UBE3A, the founding member of HECT-type (Homologous to E6AP C-terminus) E3 ligases, is implicated in human papillomaviruses (HPV)-mediated cervical cancer and neurodevelopmental disorders like Angelman and Dup15q syndromes. To elucidate the function of E3 ligases, knowledge about their substrat...
ORGANISM(S): Homo sapiens (Human) 
2025-01-27 | PXD055649 | Pride
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