Molecular Mechanisms of UBE3A Mediated Synapse Development in Angelman Syndrome
Description: PUBLIC HEALTH RELEVANCE: The proposed studies are designed to understand at the molecular level the functions and regulation of the ubiquitin ligase, UBE3A, in the context of synapse biogenesis and Angelman Syndrome etiology. The successful completion of this work will provide new insights into the molecular mechanisms of UBE3A substrates in the brain. Given the high prevalence between cytogenetic abnormalities associated with the UBE3A gene and cognitive disorders, any advancement in our understanding of the molecular mechanisms mediating UBE3A dependent brain development promises to improve pharmacological approaches for the treatment of individuals with cognitive impairment.
Funding type: research
Funder scheme: R01
Start date: 2014-06-16
End date: 2020-02-29
Investigator: SETH S MARGOLIS
Institution: JOHNS HOPKINS UNIVERSITY
Subfield: Genetics
Domain: Life Sciences
Funded outputs count: 9
Funder award ID: R01MH102364
OpenAlex ID: G9800568