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Spectrum: Autism Research News

Tag: SHANK3

November 2011

Genetics: Size of 22q13 deletion predicts clinical features

by  /  4 November 2011

In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.

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Molecular mechanisms: Fragile X drugs could treat autism

by  /  1 November 2011

Postmortem brains from adults with autism have lower-than-normal levels of the fragile X mental retardation protein, which is missing in individuals with fragile X syndrome.

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August 2011

Optogenetics study boosts signal imbalance theory of autism

by  /  8 August 2011

By zapping mouse brains with blue and yellow light beams, scientists have manipulated the animals’ social behaviors and bolstered a popular theory of what causes autism.

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July 2011

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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Cognition and behavior: SHANK1 mutant mice keep quiet

by  /  26 July 2011

Mice lacking SHANK1, a member of a family of autism-associated proteins, communicate less with their mothers and potential mates than controls do, according to a study published 9 June in PLoS One.

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Genetics: Autism samples show altered gene expression in blood

by  /  5 July 2011

Blood cells from individuals who have autism produce less-than-normal amounts of SHANK3 and NLGN3 proteins, according to a study published 26 May in Molecular Autism.

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June 2011

Molecular mechanisms: SHANK3 mutants function at synapse

by  /  22 June 2011

Spontaneous and inherited mutations in SHANK3 both inhibit the protein’s role at synapses, the junctions between neurons, according to a study published 24 May in Molecular Psychiatry.

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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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Molecular mechanisms: Mouse model supports role for SHANK3 in autism

by  /  3 June 2011

Mice with a mutation in SHANK3, a leading autism candidate gene, show moderate social defects, including less-than-normal interest in other mice. The findings, published 27 May in Cell, suggest that mutations in different sites on the gene can lead to different behaviors. This paper was retracted on 17 January 2013. Associate director of research Alan Packer discusses the implications of the retraction here.

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May 2011

Genetics: Pathway links autism, intellectual disability

by  /  18 May 2011

Individuals with intellectual disability are more likely than controls to have harmful mutations in autism candidate genes, according to a study published 11 March in the American Journal of Human Genetics.

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