Abstract 1322A: Computational study of the effects of non-synonymous mutations in human UBE3A gene present in virus-associated cancers
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DOI: 10.1158/1538-7445.am2018-1322a
Abstract: UBE3A gene encodes the ubiquitin ligase E6 associated protein (E6AP), an enzyme that catalyzes the high-risk human papilloma virus (HPV) E6-mediated ubiquitination of p53. Such modification in p53 contributes to the neoplastic progression of cells… read more here.
Keywords: e6ap; p53; gene; ube3a gene ... See more keywords
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene
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DOI: 10.1159/000480030
Abstract: Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial… read more here.
Keywords: maternally inherited; angelman syndrome; deletion; ube3a gene ... See more keywords
Molecular and behavioral consequences of Ube3a gene overdosage in mice
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DOI: 10.1172/jci.insight.158953
Abstract: Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gene is presumed to be the primary driver… read more here.
Keywords: molecular behavioral; gene overdosage; ube3a gene; gene ... See more keywords
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature
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DOI: 10.1186/s12881-017-0500-x
Abstract: BackgroundPatients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons… read more here.
Keywords: case; angelman syndrome; report; gene ... See more keywords