Tag: UBE3A

December 2012
News / Profiles

Benjamin Philpot: Managing risks to reap big rewards

by  /  20 December 2012

Smart risk management has propelled Benjamin Philpot from one adventure to another, whether it’s attempting unusual drug screens, learning to rock climb or taking his family to see volcanoes in Chile. His optimism and scientific vigor have led to discoveries for the rare Angelman syndrome, and for the wider autism spectrum.

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November 2012
News

Molecular mechanisms: Gene expression differs in autism

by  /  20 November 2012

The brains of individuals with autism express low levels of genes involved in metabolism and protein assembly, according to a postmortem study published 12 September in PLoS One.

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News

Clinical research: Chromosome 15’s twisted links to autism

by  /  6 November 2012

Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.

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October 2012
News / Toolbox

Stem cells reveal genes that have parental bias

by  /  31 October 2012

Researchers have used stem cells to identify 801 neuronal genes that are preferentially expressed from either the maternal or paternal chromosome, according to a study published 30 August in PLoS One. Of these genes, 26 are linked to autism and 48 to schizophrenia. 

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News

Study implicates ‘pleasure circuit’ in Angelman syndrome

by  /  18 October 2012

Mice that model Angelman syndrome, an autism-related disorder, are more motivated to earn rewards than controls are, according to unpublished results presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.

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News

Molecular mechanisms: Angelman region affects serotonin

by  /  12 October 2012

Mice that model Angelman syndrome or have a duplication of the 15q11-13 chromosomal region have aberrant brain levels of the chemical messenger serotonin, according to a study published 16 August in PLoS One.

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August 2012
News

Researchers home in on dosage effects of 15q11-13 region

by  /  13 August 2012

Researchers are beginning to tease apart how dosage of genes within the 15q11-13 chromosomal region contributes to autism symptoms.

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News

Nonprofit rallies funds to create autism-related mouse model

by  /  9 August 2012

Concerned by researchers’ lack of access to a valuable mouse model of autism, a nonprofit advocacy group is dedicating a chunk of its limited resources to the creation of a freely available version.

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July 2012
Opinion

Gene therapy

by  /  20 July 2012

Delicate dosage issues are just one complication of developing gene therapy for neurodevelopmental disorders.

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News

Angelman mice show impaired inhibition of brain signals

by  /  2 July 2012

Mice lacking a functional copy of UBE3A, the gene missing or mutated in people with the rare developmental disorder Angelman syndrome, show less inhibitory activity than controls do, according to research published 7 June in Neuron.

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