NIH R01 · 2024
The Role of Sensory Receptors in Angelman Syndrome
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability and atypical behavior. AS results from a loss of expression of the E3 ubiquitin-protein ligase (UBE3A) from the maternal allele. The UBE3A gene is paternally imprinted (i.e., repressed) in most neurons of humans and mice. Deletion, mutation, or loss of expression of the maternal allele results in AS. Individuals with AS display impaired motor coordination (e.g., inability to reach objects), gait deficits (i.e., instability while walking), and seizures. There are no interventions for ameliorating gait deficits. A critical barrier for treating this condition is that the molecular mechanisms that give…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.