Posts by: Joana Carvalho

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Scientists, armed with new technologies, cracked a 20-year mystery surrounding a girl diagnosed with two rare inherited disorders, Angelman syndrome and cholesterol side-chain cleavage enzyme (P450scc) deficiency, by finding ... Read more

June 3, 2019June 3, 2019

Scientists Develop Quick, Accurate Diagnostic Test for Angelman and Prader-Willi Syndromes

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Researchers have developed a new quick and accurate molecular diagnostic test for patients with either Angelman and Prader-Willi syndrome. Their study, “A rapid and accurate methylation‐sensitive high‐resolution melting analysis ... Read more

April 8, 2019April 8, 2019

Germline Mosaicism Linked to Angelman Syndrome in 2 Siblings for 1st Time, Researchers Say

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For the first time, the occurrence of germline mosaicism — a phenomenon in which a mutation is present only in a progenitors’ sperm or eggs and is passed on ... Read more

February 11, 2019February 11, 2019

Synaptic Dysfunctions May be Linked to Sleep Issues in Patients with Neurodevelopmental Disorders, Review Finds

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The close relationship between synaptic maturation and sleep may be the reason why many children with neurodevelopmental disorders (NDDs), including Angelman syndrome, experience sleep problems, a review study has ... Read more

January 14, 2019January 14, 2019

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

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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

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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

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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

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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

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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

Posts by: Joana Carvalho

Joana Carvalho

20-Year Mystery of Girl with Angelman and 2nd Rare Disease Solved via Genetic Testing

Scientists Develop Quick, Accurate Diagnostic Test for Angelman and Prader-Willi Syndromes

Germline Mosaicism Linked to Angelman Syndrome in 2 Siblings for 1st Time, Researchers Say

Synaptic Dysfunctions May be Linked to Sleep Issues in Patients with Neurodevelopmental Disorders, Review Finds

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

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

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

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

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

UBE3A Gene Reactivation Restores Neuron Physiology, But Not Behavioral Defects

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