Tag: TSC1

January 2013
News

Hunt for targets of fragile X protein proves perplexing

by  /  31 January 2013

FMRP, the protein missing in fragile X syndrome, binds to the RNA sequences of 939 genes, 93 of which have been linked to autism, according to a study published 20 December in Nature.

5 Comments
December 2012
News

Cognition and behavior: Slow response to faces seen in TSC

by  /  14 December 2012

Children with the autism-related disorder tuberous sclerosis complex show sluggish brain activity in response to images of faces, according to a study published 8 November in the Journal of Child Neurology.

0 Comments
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.

2 Comments
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.

0 Comments
July 2012
News

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.

1 Comment
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.

1 Comment
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.

1 Comment
November 2011
News

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.

0 Comments
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.

4 Comments