How can protein aggregation play a role in inherited disorders such as Phenylketonuria (commonly known as PKU)? Oscar Aubi and colleagues published their findings in the journal Nature Communications where they showed a link between aggregation of a mutant phenylalanine hydroxylase (Pah) variant (R261Q) and the disease Phenylketonuria. Amytracker was used to study the aggregation properties of Pah R261Q.

Image: 🔬 Immunofluorescence of wt Pah and Pah-R261Q detection in hepatic tissue. DAPI (blue) and Pah (green). Aubi et al. Fig 4, (CC BY 4.0)