Tag: UBE3A

July 2011
Opinion / Viewpoint

Insights for autism from Angelman syndrome

by , ,  /  19 July 2011

Deletions or duplications of the UBE3A gene lead to both Angelman syndrome and some cases of autism, respectively. Studying the effects of altered gene dosage in this region will provide insights into brain defects and suggest targets for therapies for both disorders, says expert Benjamin Philpot.

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June 2011
News

Imperfect mouse may illuminate autism syndrome

by  /  30 June 2011

A new mouse model of 15q duplication syndrome, a genetic disorder associated with autism, falls short of recapitulating the symptoms of the syndrome. But it nonetheless points to a cluster of well-known risk genes as the most likely culprits.

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March 2011
News

Genetics: Parkinson’s disease gene linked to autism

by  /  30 March 2011

Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.

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February 2011
News

Clinical research: Study questions symptoms of Angelman syndrome

by  /  8 February 2011

One of the first large-scale, ongoing studies documenting the symptoms of Angelman syndrome — a neurological disorder with features similar to autism — is calling into question some of the so-called characteristic symptoms of the syndrome.

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November 2010
News

Molecular mechanisms: Angelman gene linked to synapse formation

by  /  16 November 2010

UBE3A, a protein mutated in Angelman syndrome and autism, regulates communication between neurons in the brain, according to a study published 29 October in Cell.

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October 2010
News

Multi-gene deletion creates model for Angelman syndrome

by  /  7 October 2010

A new mouse model of Angelman syndrome that knocks out a large stretch of a key chromosome is clarifying some of the molecular mechanisms underlying the more severe forms of the disorder.

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April 2010
News

Scientists find molecular player in Angelman syndrome

by  /  27 April 2010

Two independent teams have discovered key molecular steps in the way a single gene disrupts the connections between neurons in individuals with Angelman syndrome. Because the gene, UBE3A, has also been linked to autism, the findings could help scientists understand and treat a range of neurodevelopmental disorders.

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December 2009
News

Chemical messenger variant found in families with autism

by  /  16 December 2009

Scientists have for the first time found direct evidence that defects in the GABA receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.

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November 2008
News

A simple behavioral test for mice

by  /  17 November 2008

Researchers at the Society for Neuroscience today described a new test for animal behavior that doesn’t interfere with normal mouse behavior, doesn’t require human interaction, and makes it simple to take long-term measurements: the ‘licking testʼ.

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