News

For the first time, researchers have characterized the nerve cell size and electrical activity in a key auditory area of the brain using a UBE3A gene mouse model. The findings may explain why those with Angelman syndrome are more susceptible to seizures. The study, “Enhanced Transmission at the Calyx…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Vagal nerve stimulation may effectively reduce seizures in children with Angelman syndrome with treatment-refractory epilepsy, a case series report shows. The device also made the children more alert and attentive, researchers reported. Since the study involved only three patients, for which researchers analyzed outcomes retrospectively, the team argued that randomized…

Patients with epilepsy show a pattern of robust brain structural abnormalities, including alterations in the thickness and volume of the brain’s gray matter. The findings, stemming from the largest neuroimaging analysis of epilepsy to date, may be helpful for people with Angelman syndrome, because epilepsy affects more than 80 percent of…

Deleting the Ube3a gene alters the social behavior of mice in a way that may mimic that of humans with Angelman syndrome, a study suggests. The research, “Hypersociability in the Angelman syndrome mouse model,” appeared in the journal Experimental Neurology. Humans inherit two copies of the Ube3a gene,…

Researchers have developed a method to study the enzymes involved in the disposal of proteins that are faulty or no longer needed by cells. The research will help scientists investigate the mechanism of diseases where the disposal system is functioning badly, such as it does in Angelman syndrome, which may…

A mutation in the UBE3A gene, whose loss causes Angelman syndrome, activates a molecular pathway that is critical to brain development, new research shows. The study, “The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome,” appeared in the…

Imprinting of the UBE3A gene – a phenomenon linked to Angelman syndrome – did not evolve as a method to control the dosage of UBE3A in neurons, a new study shows. The study, “Genomic imprinting does not reduce the dosage of UBE3A in neurons,” was published in…

Scientists have shown that thinner-than-normal nerve cell projections (axons) are involved in Angelman syndrome (AS) disease mechanism. The study, “Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice,” was funded by the Angelman…

A specific type of magnetic resonance imaging (MRI) can be used to detect oxidative stress in mouse models of Angelman syndrome and Alzheimer’s disease, new study shows. Hippocampus oxidative stress is considered pathogenic in neurodegenerative and neurodevelopmental disorders, such as Angelman syndrome. Yet the clinical benefits of antioxidant treatment for…