Figure - available from: Frontiers in Cell and Developmental Biology
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Milestones in Angelman Syndrome research. Highlighted years represent the year of the relevant publication. Abbreviations: UBE3A—Ubiquitin Protein Ligase E3A; UBE3A-ATS—ubiquitin-protein ligase E3A anti-sense; ASOs—antisense oligonucleotides.
Source publication
Angelman syndrome (AS) is an imprinted neurodevelopmental disorder that lacks a cure, characterized by developmental delay, intellectual impairment, seizures, ataxia, and paroxysmal laughter. The condition arises due to the loss of the maternally inherited copy of the UBE3A gene in neurons. The paternally inherited UBE3A allele is unable to compens...
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5 subunit-containing γ-aminobutyric acid type A (GABAA) receptors represent a promising drug target for neurological and neuropsychiatric disorders. Altered expression and function contributes to neurodevelopmental disorders such as Dup15q and Angelman syndromes, developmental epilepsy and autism. Effective drug action without side effects is depen...
