Skip to main content

Spectrum: Autism Research News

Tag: Angelman syndrome

April 2012

Molecular mechanisms: Stress pathway dysregulated in autism

by  /  27 April 2012

Two studies report abnormalities in the system that mediates the body’s response to stress in two mouse models of autism-related diseases: Angelman syndrome and Rett syndrome. The results were published in the April issue of Human Molecular Genetics.

0 Comments
December 2011

Clinical research: Cancer drug could treat Angelman syndrome

by  /  21 December 2011

A cancer drug shows promise as a treatment for Angelman syndrome, according to a study published today in Nature.

0 Comments

Genetics: Small DNA region implicated in autism

by  /  6 December 2011

Duplication or deletion of four genes within a large chromosomal region linked to Angelman syndrome and autism could lead to developmental disability or language delay, according to a study published in the October issue of Human Genetics.

0 Comments
November 2011

Researchers identify drug candidate for Angelman syndrome

by  /  17 November 2011

Researchers have identified a compound that shows promise as a treatment for Angelman syndrome, a developmental disorder related to autism. The unpublished results were presented Tuesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

7 Comments

Fruit flies pin down autism candidates

by  /  17 November 2011

Looking at flies that express elevated levels of UBE3A, a gene that is duplicated in some people with autism, researchers have identified 81 proteins that may be linked to the disorder, according to unpublished results presented Tuesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

0 Comments

Video: Turning the brain’s social circuits on and off

by  /  16 November 2011

Matthew Anderson talks to SFARI.org about what mice carrying deletions and duplications of UBE3A could teach us about autism.

0 Comments
October 2011

Two new autism mouse models highlight gene dosage effects

by  /  6 October 2011

Two new genetic mouse models that debuted this week show that having too many or too few copies of certain genetic regions leads to an array of symptoms reminiscent of autism.

6 Comments
September 2011

Reference set for Prader-Willi, Angelman syndromes debuts

by  /  14 September 2011

Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.

0 Comments
July 2011
Neurons

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.

1 Comment
June 2011

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.

2 Comments