Publications by authors named "Edoardo Cavani"
JCI Insight
September 2024
Article Synopsis
- Congenital myasthenic syndrome-22 (CMS22) is a rare genetic condition linked to variations in the PREPL gene, with previous research focusing mainly on deletions and nonsense mutations.
- This study investigates missense variants in PREPL from three CMS22 patients, revealing that these variants do not affect hydrolase activity, which contradicts existing diagnostic standards.
- Structural analysis indicates that these missense variants interfere with protein interactions and highlight the significance of PREPL's nonhydrolytic functions, suggesting that CMS22 can arise from different types of genetic changes beyond just deletions.
