Tag: UBE3A

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drug called topotecan boosts expression for a year of the gene that’s deficient in Angelman syndrome, according to unpublished mouse research presented 20 March at the New York Academy of Sciences.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

0 Comments
December 2012
News / Profiles

Benjamin Philpot: Managing risks to reap big rewards

by  /  20 December 2012

Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.

10 Comments
November 2012
News

Molecular mechanisms: Gene expression differs in autism

by  /  20 November 2012

The brains of individuals with autism express low levels of genes involved in metabolism and protein assembly, according to a postmortem study published 12 September in PLoS One.

0 Comments
News

Clinical research: Chromosome 15’s twisted links to autism

by  /  6 November 2012

Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.

1 Comment
October 2012
News / Toolbox

Stem cells reveal genes that have parental bias

by  /  31 October 2012

Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia. 

0 Comments