🎓Aminoacylases in Health and Disease

The doctoral project of Lil Klaas aims to elucidate the molecular basis of inherited metabolic disorders caused by genetic variants in aminoacylase genes. These disorders can lead to severe neurological phenotypes in children, yet they remain poorly understood. A deficiency in one of the aminoacylase genes can result in the accumulation of N-acylated amino acids, primarily detectable in urine. To date, only the enzymatic functions of aminoacylases have been characterized, while their broader roles and potential interaction partners remain largely unknown. By investigating these aspects and gaining more detailed insights into the underlying molecular mechanisms, my research aims to provide a basis for potential improvements in diagnostics and treatment.