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Spectrum: Autism Research News

Tag: Angelman syndrome

November 2013

Reactions from SfN 2013

by  /  14 November 2013

Tune in for daily updates and reactions from attendees at the 2013 Society for Neuroscience meeting in San Diego, California.

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October 2013

Length matters: Disease implications for long genes

by  /  22 October 2013

A gene’s length may influence its expression, and this has implications for autism, which tends to be linked to particularly long genes, says Mark Zylka. 

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September 2013

Molecular mechanisms: Study shows Angelman drug’s actions

by  /  24 September 2013

Researchers have uncovered the mechanism by which a candidate drug for Angelman syndrome activates UBE3A, the gene that is silenced in the syndrome, according to a study published 20 August in the Proceedings of the National Academy of Sciences.

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Gene expression in neurons may not match number of copies

by  /  23 September 2013

Neurons derived from individuals who carry extra copies of an autism-linked chromosomal region have gene expression patterns that are unexpectedly similar to those of neurons with deletions of the region. The unpublished findings were presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.

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What does the existence of long genes tell us?

by  /  23 September 2013

Long genes, and their relationship to a class of enzymes that regulate gene expression, raise intriguing questions about the risk for neuropsychiatric disorders.
 

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Mouse model hints at autism gene’s role in nucleus

by  /  20 September 2013

Mice that express elevated levels of an autism-linked gene in the nucleus of neurons show social and communication problems, according to unpublished research presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.

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Autism genes are surprisingly large, study finds

by  /  16 September 2013

Enzymes called topoisomerases are crucial for the expression of extremely long genes, including many that have been linked to autism, according to a study published 5 September in Nature. The researchers also discovered that autism genes are, on average, significantly longer than others.

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Intellectual disability may unmask autism symptoms

by  /  10 September 2013

The autism-like features seen in related neurological disorders may be the result of intellectual disability and not a shared underlying biology, says Alan Packer.
 

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Benjamin Philpot explains Angelman drug prospects

 /  25 September 2013

Watch the complete replay of Benjamin Philpot discussing the possibility of pharmacologically turning on a silent gene to treat Angelman syndrome. Submit follow-up questions.

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Normalizing protein level preempts Angelman symptoms

by  /  9 September 2013

Depleting excess levels of a molecule involved in neuronal signaling prevents the cognitive and motor symptoms of Angelman syndrome in a mouse model of the disorder, according to a report published 15 August in Cell Reports.
 

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