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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder

Principal Investigator

Principal Investigator

Anderson, Matthew

Description

Description

This project seeks to learn how certain autism-related genes may affect proteins in the brain and the function of brain circuits that underlie the behavioral disturbances observed in autism. The ubiquitin E3 ligase, Ube3a, has been implicated in autism spectrum disorder (ASD) caused by duplication in the maternal 15q 11-13 gene region (15qASD). Cells from 15qASD patients have extra copies of the UBE3A gene. The majority of children who inherit 15q11-13 duplications from their mothers develop ASD; the more copies inherited, the more severe the impairment. This project tests the hypothesis that excess Ube3a protein (created by extra copies of 15q11-13) contributes to ASD by increasing the ubiquitination and degradation of key brain proteins needed to preserve normal neuronal circuit function. Mouse models will be used to elucidate the impact of the number of copies of 15q11-13 on neural circuit function. This understanding may lead to the development of new drugs and behavioral interventions.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

303625

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 4: Which Treatments And Interventions Will Help?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 4SB. Standardize and validate at least 20 model systems (e.g., cellular and/or animal) that replicate features of ASD and will allow identification of specific molecular targets or neural circuits amenable to existing or new interventions by 2012. IACC Recommended Budget: $75,000,000 over 5 years.

Project Link

Project Link

Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder (External web link)

Institution

Institution

Beth Israel Deaconess Medical Center

State/Country

State/Country

Massachusetts

Project Number

Project Number

1R21NS070295-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Neurobiological mechanism of 15q11-13 duplication autism spectrum disorder | 304500 | 2010 | 5R21NS070295-02

 
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