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Latest Angelman Syndrome Stories

2014-04-10 11:22:17

Are babies who wake to breastfeed at night trying to delay the birth of a sibling? In a new article published online today in the journal Evolution, Medicine, and Public Health, Professor David Haig argues that infants that wake frequently at night to breastfeed are delaying the resumption of the mother's ovulation and therefore preventing the birth of a sibling with whom they would have to compete. It has already been documented that smaller gaps between the births of siblings are...

2014-01-10 11:07:09

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 time, that the active form of E6AP is composed of three distinct protein molecules. E6AP controls functions as diverse as the ability of nerve cells to "rewire" themselves in response to external stimuli and the mechanism by which certain viruses, like human...

2013-08-06 09:06:55

UC Davis researchers have identified how and where in the genome a cancer chemotherapy agent acts on and 'un-silences' the epigenetically silenced gene that causes Angelman syndrome, a rare neurodevelopmental disorder characterized by severe intellectual disability, seizures, motor impairments, and laughing and smiling. The agent, Topotecan, is a topoisomerase inhibitor, part of a class of drugs that in earlier research has been found to un-silence the Angelman gene, suggesting that it...

2013-08-05 23:01:54

UC Davis researchers have identified how and where in the genome a cancer chemotherapy agent acts on and ‘un-silences’ the epigenetically silenced gene that causes Angelman syndrome, a rare neurodevelopmental disorder characterized by severe intellectual disability, seizures, motor impairments, and laughing and smiling. Sacramento, CA (PRWEB) August 05, 2013 UC Davis researchers have identified how and where in the genome a cancer chemotherapy agent acts on and ‘un-silences’ the...

2013-06-25 19:16:17

Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome — a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity — is associated with the loss of non-coding RNAs, resulting in the dysregulation of circadian and metabolic genes, accelerated energy expenditure and metabolic differences during sleep. The research was led by Janine LaSalle, a professor in the UC Davis Department of Medical...

2013-02-13 15:04:21

In the journal PLoS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes. In a new study in mice, a scientific collaboration centered at Brown University lays out in unprecedented detail a neurological signaling breakdown in Angelman syndrome, a disorder that affects thousands of...

2012-11-13 13:33:12

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. The clinical trial is based on a 10-year-old case report showing benefit with the drug, but few studies since have explored the neurological justification for using L-DOPA to treat parkinsonian features in Angelman syndrome. New research from the University of...

2012-06-07 08:46:47

New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder. Published online Thursday June 7, 2012 in the journal Neuron, researchers led by Benjamin D. Philpot, PhD, professor of cell and molecular physiology at UNC, describe how seizures in individuals with AS could be linked to an imbalance in the activity of specific...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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