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Angelman Research Update – Professor David Segal 2014
Professor David Segal heads a research laboratory at The Genome Center of the University of California Davis. A main focus of the Segal Lab is designing proteins that can bind to DNA and “turn on” or “turn off” the expression of specific genes. Such DNA binding proteins have the potential to be used in applications such as targeted gene expression therapy for conditions with a known genetic basis. For example this approach might allow people with Angelman Syndrome to make up for the loss or inactivation of the UBE3A gene on the chromosome inherited from the mother, by “turning on” or expressing the UBE3A gene inherited from the father. Professor Segal…
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The Latest Research for Angelman Syndrome by Ed Weeber Ph.D.
By Edwin J. Weeber, Ph.D. BMC Neurosci. 2014 Jun 19;15:76. doi: 10.1186/1471-2202-15-76. The prospect of molecular therapy for Angelman syndrome and other monogenic neurologic disorders. Bailus BJ, Segal DJ1. Abstract: Angelman syndrome is a monogenic neurologic disorder that affects 1 in 15,000 children, and is characterized by ataxia, intellectual disability, speech impairment, sleep disorders, and seizures. The disorder is caused by loss of central nervous system expression of UBE3A, a gene encoding a ubiquitin ligase. Current treatments focus on the management of symptoms, as there have not been therapies to treat the underlying molecular cause of the disease. However, this outlook is evolving with advances in molecular therapies, including artificial…
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The Latest Research for Angelman Syndrome
By Edwin J. Weeber, Ph.D. Learn Mem. 2014 Jan 16;21(2):98-104. doi: 10.1101/lm.032375.113. Activity-dependent changes in MAPK activation in the Angelman Syndrome mouse model. Filonova I1, Trotter JH, Banko JL, Weeber EJ. Author information Abstract Angelman Syndrome (AS) is a devastating neurological disorder caused by disruption of the maternal UBE3A gene. Ube3a protein is identified as an E3 ubiquitin ligase that shows neuron-specific imprinting. Despite extensive research evaluating the localization and basal expression profiles of Ube3a in mouse models, the molecular mechanisms whereby Ube3a deficiency results in AS are enigmatic. Using in vitro and in vivo systems we show dramatic changes in the expression of Ube3a following synaptic activation. In primary…