Results 171 to 180 of about 5,768 (191)

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
openaire   +2 more sources

Ube3a/E6AP is involved in a subset of MeCP2 functions

Biochemical and Biophysical Research Communications, 2013
Rett syndrome (RTT) and Angelman syndrome (AS) are devastating neurological disorders that share many clinical features. The disease-causing mutations have been identified for both syndromes. Mutations in Methyl-CpG Binding Protein 2 (MECP2) are found in a majority of patients with classical RTT while absence of maternal allele or intragenic mutation ...
Soeun, Kim, Maria, Chahrour, Shay, Ben-Shachar, Janghoo, Lim   +3 more
openaire   +2 more sources

Maternal UBE3A in Angelman syndrome: “The rest is silence”? [PDF]

European Journal of Paediatric Neurology, 2012
info:eu-repo/semantics ...
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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
openaire   +2 more sources

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.
openaire   +1 more source

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
openaire   +1 more source

A high sensitivity assay of UBE3A ubiquitin ligase activity

Methods
Abstract UBE3A 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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Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model

Molecular Therapy, 2023
Nycole A Copping, Peter Deng
exaly  

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

Cell Reports Medicine, 2021
Nikhil J Pandya, Congwei Wang, Paul Lopatta   +2 more
exaly  

The role of Ube3A in presynaptic differentiation

The decrease in UBE3A gene expression levels results in Angelman Syndrome, a rare neurodevelopmental disease characterized by cognitive and motor impairments, epilepsy and EEG abnormalities, as well as lack of speech and sleep difficulties. Various genetic etiologies can disrupt proper UBE3A expression, including deletions in the 15q11-q13 region ...
openaire   +1 more source