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Differences in structure, dynamics, and zinc coordination between isoforms of human ubiquitin ligase UBE3A. [PDF]

J Biol Chem
Bregnard TA, Fairchild D, Chen X, Erlandsen H, Tarasov SG, Walters KJ, Korzhnev DM, Bezsonova I.   +7 more
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Angelman Syndrome Due to UBE3A Gene Mutation

The Indian Journal of Pediatrics, 2017
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding.
Jyotindra Narayan, Goswami, Jitendra Kumar, Sahu, Pratibha, Singhi   +2 more
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Mutation Update for UBE3A Variants in Angelman Syndrome

Human Mutation, 2014
Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of ...
Bekim, Sadikovic, Priscilla, Fernandes, Victor Wei, Zhang, Patricia A, Ward, Irene, Miloslavskaya, William, Rhead, Richard, Rosenbaum, Robert, Gin, Benjamin, Roa, Ping, Fang   +9 more
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Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A

Psychiatry Research, 2011
The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities identified 15q11-q13 as a region of particular aetiopathogenesis interest.
G. Guffanti, L. Strik Lievers, M. T. Bonati, M. Marchi, L. Geronazzo, N. Nardocci, M. Estienne, L. Larizza, F. Macciardi, S. Russo   +9 more
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Genomic organization and allelic expression of UBE3A in chicken

Gene, 2006
UBE3A, the gene associated with Angelman syndrome, is part of a cluster of genes in the human chromosome 15q11-q13/mouse chromosome 7C region, that is subject to genomic imprinting. In human and mouse brain, UBE3A is expressed predominantly from the maternal allele, and the paternal allele is silenced.
Dan C, Colosi, Danielle, Martin, Karen, Moré, Marc, Lalande   +3 more
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UBE3A and the Angelman Syndrome

2008
Abstract Angelman syndrome (AS) is a neurodevelopmental disorder caused by deficiency of the ubiquitin-protein ligase UBE3A in the brain. The genetic pathogenesis of AS is complex, because the UBE3A gene shows parent-specific differential expression, or imprinting, limited to the brain.
Lowell Rayburn, Joseph Wagstaff
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A high sensitivity assay of UBE3A ubiquitin ligase activity

Methods
AbstractUBE3A is an E3 ubiquitin ligase associated with several neurodevelopmental disorders. The development of several preclinical therapeutic approaches involving UBE3A, such as gene therapy, enzyme replacement therapy, and epigenetic reactivation, require the detection of its ubiquitin ligase activity.
Linna, Han, Z, Begum Yagci, Albert J, Keung   +2 more
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Maternal UBE3A in Angelman syndrome: “The rest is silence”?

European Journal of Paediatric Neurology, 2012
SCOPUS: le.j ; info:eu-repo/semantics ...
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The role of Ube3a in neuronal development

2022
Síndrome de Angelman é uma doença genética caracterizada por imprinting paternal e deleção maternal da Ube3a. Deste modo, pacientes com Síndrome de Angelman têm níveis reduzidos de expressão da Ube3a em várias regiões do cérebro, incluindo o hipocampo e o cerebelo.
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