Neuron activity is impaired in nerve cells located in a specific brain region of genetically engineered mice that lack the UBE3A gene. This activity can be restored upon UBE3A reactivation in the brain of adult animals, a mouse study reveals. The study, “Adult Ube3a gene reinstatement restores the electrophysiological deficits…
Indotecan (LMP400), a compound already in Phase 1 clinical trials, showed promising results as an Angelman syndrome treatment, a mouse study reported. The study, “Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome,” was published in Molecular Autism. Angelman…
Researchers have found a specific type of genetic defect in stem cells derived from a patient with Angelman syndrome that have been used as a laboratory model to study the disease. The team claims that such alterations might have serious implications and should be taken into account when selecting this…
Humor is essential for the social, developmental and emotional well-being of people affected by different types of intellectual disabilities, including Angelman syndrome, and their caregivers, according to a recent literature review. The review, “Investigating humor in social interaction in people with intellectual disabilities: A systematic review of the literature,”…
Angelman syndrome can occur alongside a condition called dihydropyrimidine dehydrogenase (DPD) deficiency, which has varying degrees of severity and elusive disease mechanisms, a case report suggests. A connection between the two disorders, however, was not established and may be coincidence. The study, “Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical…
Minocycline failed to demonstrate any clinical benefits in the treatment of children and young adults with Angelman syndrome, results of a Phase 2 clinical trial show. The study, “A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE…
Deregulation of the brain’s ability to filter real neural signals without becoming overloaded could be the key to understanding the variety and severity of symptoms experienced by Angelman syndrome patients, according to researchers. The study, “Pathophysiological impact of diverse dysregulation of tonic inhibition in Angelman syndrome,” was presented by…
New instruments for researching Angelman syndrome should be developed to make sure patient outcomes are relevant and properly registered and catalogued in clinical trials, a new study suggests. Current clinical outcomes assessments (COAs) that measure a patient’s symptoms, overall mental state, or the effects of a disease or condition on…
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