Tag: UBE3A

December 2013
News

Genetics: Prader-Willi syndrome gene is new autism candidate

by  /  10 December 2013

Mutations in a single gene in 15q11.13 — a chromosomal region linked to multiple neurological disorders — may increase the risk of autism, according a study published in November in Nature Genetics.

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September 2013
News

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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News

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 The unpublished findings were presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.

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Opinion

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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News

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levels of an autism-linked gene in the nucleus of neurons show social and communication problems, according to unpublished research presented Thursday at the Dup15q Alliance Scientific Meeting in Sacramento, California.

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News

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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Multimedia / Webinars

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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News

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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News

Genome-editing tools compose new models of autism

by  /  5 September 2013

Thanks to a suite of new tools based on synthetic biology, it’s now possible to quickly and cheaply insert autism-linked mutations into living cells in the lab.

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August 2013
News

Molecular mechanisms: Rett, Angelman genes work together

by  /  13 August 2013

The genes involved in Rett and Angelman syndromes may collaborate to regulate the expression of other proteins, according to a study published 19 July in Biochemical and Biophysical Research Communications. This may explain the overlap in symptoms between the two disorders, the researchers say.

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