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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

Caspr2 as an autism candidate gene: A proteomic approach to function & structure

Principal Investigator

Principal Investigator

Comoletti, Davide

Description

Description

Several lines of evidence indicate that autism, epilepsy, ADHD, Tourette syndrome, and schizophrenia share some common underlying brain abnormalities. Recent genetic studies suggest that mutations or copy number variation in the CNTNAP2 gene may cause some of these manifestations. The studies planned in this project investigating the structure and the deleterious effects of the known mutations of Caspr2 (gene product of CNTNAP2) will help understand the biology of this neuronal protein and predict how mutations linked to a disease state affect Caspr2 structure and function. Ultimately, these data will help researchers to develop therapeutic strategies to modify protein biosynthesis, processing, or adhesive properties of the partnering proteins to ameliorate these disorders.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

312000

Current Award Period

Current Award Period

2011-2016

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

2O. Not specific to Question 2 objectives

Project Link

Project Link

Caspr2 as an autism candidate gene: A proteomic approach to function & structure (External web link)

Institution

Institution

University of Medicine & Dentistry of New Jersey - Robert Wood Johnson Medical School

State/Country

State/Country

New Jersey

Project Number

Project Number

5R01MH092906-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Caspr2 as an autism candidate gene: A proteomic approach to function & structure | 312000 | 2011 | 1R01MH092906-01A2

 
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