Posts by: Joana Carvalho

Joana Carvalho

January 14, 2019January 14, 2019

Coffin-Siris Syndrome Should be Included in the Differential Diagnosis of Angelman Syndrome, Case Study Says

News

Coffin-Siris syndrome (CSS) should be included in the differential diagnosis of Angelman syndrome, say researchers, after describing the case of a 14-year-old boy who harbored a genetic mutation associated ... Read more

November 16, 2018November 16, 2018

Short-term use of NSI-189 Aids Cognitive and Motor Skills in Angelman Mouse Model, Study Says

News

Short-term treatment with Neuralstem‘s NSI-189 reversed cognitive and motor impairments in a mouse model of Angelman syndrome, according to study results. This early finding could help to pave the way for this compound, in ... Read more

November 9, 2018November 9, 2018

UBE3A Gene Reactivation in Inhibitory Neurons May Prevent Seizures, Angelman Mouse Study Shows

News

Epileptic seizures caused by disturbances in the activity of a specific type of nerve cell called an inhibitory neuron were prevented by the reactivation of the UBE3A gene in young mice with Angelman ... Read more

November 2, 2018November 2, 2018

Researchers Closer to Understanding Role of Enzyme Behind Angelman Syndrome, Study Reports

News

Researchers from the University of North Carolina have found that ubiquitin protein ligase E3A — the malfunction of which is behind Angelman syndrome development — is present in different types of neurons ... Read more

October 8, 2018October 8, 2018

UBE3A Mutation Prevents Enzyme From Binding to Proteasome, Contributing to Angelman Symptoms, Study Finds

News

Researchers from Harvard Medical School have discovered that a genetic mutation in the UBE3A gene found in Angelman syndrome patients prevents an enzyme called ubiquitin ligase E3A from interacting with ... Read more

September 17, 2018September 17, 2018

UBE3A Gene Reactivation Restores Neuron Physiology, But Not Behavioral Defects

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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 ... Read more

September 10, 2018September 10, 2018

Indotecan Shows Early Promise in Treatment of Angelman Syndrome

News

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 ... Read more

September 7, 2018September 9, 2018

Cells Used to Model Angelman Syndrome in Labs May Have Genetic Defect, Study Contends

News

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 ... Read more

September 1, 2018October 1, 2018

Humor is Crucial for Social and Emotional Well-being in People With Intellectual Disabilities, Review Shows

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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 ... Read more

August 31, 2018September 10, 2018

Dihydropyrimidine Dehydrogenase Deficiency Found in Boy Later Diagnosed with Angelman, Case Study Reports

News

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 ... Read more

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