| Autor: |
Nikolaos Vogiatzakis, Ariadni Mavrou, Helen Frysira, George N. Goulielmos, Sofia Kitsiou, E. Kanavakis, Evmorfia Tzagaraki, Christalena Sofocleous |
| Rok vydání: |
2008 |
| Předmět: |
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| Zdroj: |
Annals of General Psychiatry, Vol 7, Iss Suppl 1, p S333 (2008) |
| ISSN: |
1744-859X |
| DOI: |
10.1186/1744-859x-7-s1-s333 |
| Popis: |
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental retardation, absence of speech, ataxia, seizures and hyperactivity. Individuals with AS lack a normal active maternal copy of the UBE3A gene, encoding ubiquitin protein ligase (E6AP). In 80% of patients the clinical diagnosis is verified by molecular detection of one of the typical 15q11-q13 abnormalities, including chromosomal deletions (70%), paternal uniparental disomy (35%) or imprinting centre mutations (7%). Heterozygous lossoffunction mutations of E6AP have been identified in approximately 8% of cases. UBE3A gene is imprinted in human brain, with the paternal allele being normally silenced. E6AP is a member of E3 ubiquitin ligase protein family which plays a role in defining substrate specificity of the ubiquitinproteasome degradation system. The exact mechanism by which the defective E6-AP gene causes AS remains unknown. Clinical findings seem to be due to failure to degrade various proteins, accumulation of which may be harmful for an individual. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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