Tag: TSC2

October 2012
News

Mouse model links autism risk gene to mitochondria

by  /  11 October 2012

A new mouse model provides the first molecular link between the known autism risk gene PTEN and the mitochondrial dysfunction sometimes seen in the disorder. Mice with half the normal amount of PTEN protein in their brains have social deficits reminiscent of autism and faulty mitochondria, according to a study published 10 August in PLoS One.

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August 2012
News

Cognition and behavior: Connectivity deficits link autism, TSC

by  /  7 August 2012

Abnormalities in the connections between language-related brain regions are similar in people with autism and those with tuberous sclerosis, a genetic disorder characterized by benign tumors throughout the brain and body, according to a paper published 1 June in Cerebral Cortex.

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July 2012
Opinion / Viewpoint

Insights for autism from tuberous sclerosis complex

by  /  24 July 2012

Studying tuberous sclerosis provides researchers with a unique opportunity to find a common pathway among the various genetic causes of autism, says neurologist Mustafa Sahin.

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December 2011
Features / Special Reports / 2011: Year in review

The year in review

23 December 2011

The ten notable papers picked by SFARI staff describe superb contributions that span the breadth of autism research from molecules to behavior. But we recognize that ten other articles might have been selected without loss of enthusiasm or excitement.

7 Comments
News

Tuberous sclerosis, fragile X may be molecular opposites

by  /  1 December 2011

Some forms of autism are caused by too many proteins at the synapse, the junction between neurons, whereas other forms result from too few, according to a study published 23 November in Nature.

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July 2011
News

Fragile X protein found to regulate key autism candidates

by  /  28 July 2011

The protein missing in people with fragile X syndrome regulates the activity of more than 800 other proteins, including some key players in autism, according to a study published 22 July in Cell. Many of these autism-associated proteins cluster on either side of the synapse, the junction between neurons.

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June 2011
News

Protein networks link different forms of autism, study says

by  /  13 June 2011

Researchers have identified hundreds of previously unknown connections between proteins involved in autism spectrum disorders, according to a report published last week in Science Translational Medicine.

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November 2010
News

Tuberous sclerosis mice have fewer synaptic proteins

by  /  17 November 2010

A study of mice with tuberous sclerosis — a single-gene disorder that is related to autism — suggests that most forms of autism share a common feature: an imbalance of proteins at the synapse, the junction between neurons. The work was presented Monday at the Society for Neuroscience annual meeting in San Diego.

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June 2010
Opinion

Simple pathway

by  /  24 June 2010

A study of a rare form of epilepsy found in Amish groups adds heft to the idea that mTOR — a much-studied hub in a massive network of brain cell proteins — is an important biochemical player in autism.

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February 2010
News

Tuberous sclerosis linked to brain cell migration

by  /  8 February 2010

The TSC2 gene, mutations in which cause tuberous sclerosis complex, is needed for budding nerve fibers to find their proper targets in the brain, according to a mouse study published in Nature Neuroscience.

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