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What We Do
Research
 
Reelin
Angelman Syndrome
ApoE and Alzheimer's Disease
Neuroprosthetics
 
Funding
National Institutes of Health
 
Manipulating temporal and spatial CaMKII activity in Angelman Syndrome
Novel therapeutic strategies for treatment of Angelman syndrome
Foundation Jerome Lejeune
 
Therapeutic interventions for Angeman syndrome
Foundation for Angelman Syndrome Therapeutics
 
Effectiveness of established therapeutics for the treatment of Angeman syndrome

 

 

Angelman Syndrome Research

The gene responsible for Angelman syndrome (AS), UBE3A, is unique in that it is one of few genes in the CNS that undergoes imprinting, a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. Angelman syndrome arises from a variety of abnormalities on the chromosome 15, with each resulting in the functional loss of the maternal UBE3A gene.

Our research suggests the cognitive disruption observed in AS may result from disruption in CaMKII signaling. Importantly, αCaMKII is not produced until after birth, suggesting that postnatal therapeutic intervention may be possible. The NLML is exploring several approaches to rescue the learning and memory deficits in AS mouse model and consults with Clinician Scientists on the design of clinical trials.

 

Current NLML AS Research Projects

Introduction to Angelman Syndrome

UBE3A Gene Function

Model Systems of Angelman Syndrome

Molecular Changes in the AS Mouse Model

Parents Area

Byrd Alzheimer's InstituteMolecular Pharmacology & PhysiologyUSF Health

Copyright © 2009 Edwin Weeber, PhD