Tag: UBE3A

September 2013
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.

1 Comment
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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May 2013
News

Twin study finds epigenetic imprint of autism traits

by  /  16 May 2013

Epigenetics, or the chemical markings on DNA that affect gene expression, plays a role in some cases of autism, according to a study of 50 identical twins published 23 April in Molecular Psychiatry.

6 Comments
April 2013
Opinion

How can an experimental Angelman drug be so specific?

by  /  29 April 2013

A candidate drug for Angelman syndrome shows promise in activating the gene silenced in people with the disorder, and only that gene. Why doesn’t it unsilence other genes?

1 Comment
News

Angelman syndrome drug shows promise in mouse study

by  /  29 April 2013

Two weeks of treatment with a cancer drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.

1 Comment
News

Study clarifies link between 15q duplication and autism

by  /  4 April 2013

Children who carry an extra copy of the 15q11-13 region of the genome usually have autism and sleep troubles, as well as distinctive brain-wave patterns and facial features, according to a report published 14 March in Autism Research.

24 Comments
March 2013
Opinion / Viewpoint

Rho family of enzymes at crossroads of autism

by  /  12 March 2013

A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.

1 Comment
January 2013
Opinion / Viewpoint

Exploring enigmatic links between mitochondria and autism

by  /  8 January 2013

Mitochondrial deficits may account for the range of symptoms and neurological deficits seen in autism and explain why it preferentially affects boys, says Douglas Wallace.

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