More than 5,000 people are diagnosed annually with ALS (amyotrophic lateral sclerosis), a fatal, neurodegenerative disease that attacks nerve cells in the brain and spinal cord, gradually robbing people of the ability to ...
Jun 6, 2023
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Hereditary diseases as well as cancers and cardiovascular diseases may be associated with a phenomenon known as genomic imprinting, in which only the maternally or paternally inherited gene is active. An international research ...
Jan 12, 2022
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Most genes are inherited as two working copies, one from the mother and one from the father. However, in a few instances, a gene is imprinted, which means that one copy is silenced. This is called genomic imprinting. If the ...
Dec 1, 2014
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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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The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found.
Aug 26, 2021
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Angelman syndrome is a genetic disease with no cure. Children grow up with severe intellectual disabilities and a range of other problems, arguably the worst of which are epileptic seizures. Now scientists at the UNC School ...
Nov 20, 2018
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Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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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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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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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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