Abnormal levels of the enzyme UBE3A are linked to brain disorders like Angelman syndrome and autism. UBE3A exists in three slightly different forms (isoforms) in the body, but their specific roles are still unclear. We used advanced techniques like NMR spectroscopy to study these differences in structure and behavior. Understanding these differences helps explain how each isoform may work in the body and could lead to better treatments for UBE3A-related conditions.

https://www.jbc.org/article/S0021-9258(24)02651-6/fulltext