Author: Irina Bezsonova

Publication Highlight

How a Key Enzyme Switches On and Off—And How a Rare Mutation Pushes It Into Overdrive

https://www.growkudos.com/publications/10.1073%25252Fpnas.2426632122/reader

USP7 is an important enzyme whose activity is tightly controlled in cells. Using advanced NMR techniques, researchers gained a rare glimpse into how the enzyme’s movements regulate its function. They discovered that a mutation linked to a rare neurodevelopmental disorder increases these movements, causing the enzyme to become overactive.

 

New publication in PNAS

Activation dynamics of ubiquitin-specific protease 7 – a deubiquitinating enzyme linked to cancers and neurodevelopmental disorders. Using NMR and enzyme kinetic analyses, we unravel the enzyme activation mechanism, demonstrating that USP7 transiently samples low-populated active conformations with a hyperactive G392D disease variant enhancing these dynamics.

https://www.pnas.org/doi/10.1073/pnas.2426632122?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

Our new publication in the Journal of Biological Chemistry

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