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Spectrum: Autism Research News

Tag: TSC1

August 2012

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

Tuberous sclerosis gene loss triggers autism-like features

by  /  26 July 2012

Losing one or both copies of TSC1, one of the two genes responsible for tuberous sclerosis complex, in specific cells of the cerebellum can trigger several autism-like behaviors in mice, according to research published 1 July in Nature.

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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

The year in review

by  /  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.

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Chart explaining healthy neuron synapse function.

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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November 2011

Mouse models point to early troubles in tuberous sclerosis

by  /  28 November 2011

The brain abnormalities characteristic of tuberous sclerosis may begin early in development and involve malfunctioning of neuronal precursors, according to studies of two different mouse models of the disorder published in October.

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June 2011

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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September 2010

Studies tie fragile X syndrome to famous cancer pathway

by  /  23 September 2010

A drug that interferes with a biochemical pathway important in cancer can reverse some brain defects in mouse models of fragile X syndrome, according to a study published 11 August in the Journal of Neuroscience.

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June 2010

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

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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