A research group at the Faculty of Science and Technology of the UPV/EHU-University of the Basque Country has managed to identify the changes in the proteins altered by the UBE3A enzyme, which is responsible for Angelman ...
Apr 20, 2018
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Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential ...
Apr 24, 2017
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We live in an age of genetics. Major genetic success stories such as breakthroughs in treating cystic fibrosis and breast cancer inspire hope that it can one day provide a cure for all ills. So when we hear that mental disorders ...
Aug 10, 2015
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A team of scientists at LSU Health Sciences Center New Orleans has discovered the structure of the active form of E6-associated protein (E6AP), an enzyme that acts as a master regulator in the body. They report, for the first ...
Jan 9, 2014
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When you experience something, neurons in the brain send chemical signals called neurotransmitters across synapses to receptors on other neurons. How well that process unfolds determines how you comprehend the experience ...
Oct 23, 2013
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Last year a clinical trial of L-DOPA—a mainstay of Parkinson's disease therapy—was launched for Angelman syndrome, a rare intellectual disorder that shares similar motor symptoms such as tremors and difficulty with balance. ...
Nov 12, 2012
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After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after researchers found out she ...
Apr 27, 2019
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We all have a gene called UBE3A, and when the copy we inherit from our mother works normally, our brain develops properly.
Jul 11, 2018
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