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.
🔬 Immunofluorescence of wt Pah and Pah-R261Q
detection in hepatic tissue. DAPI (blue) and Pah (green). (Fig 4) (CC BY 4.0)
Read the full article to dive into the fascinating world of protein aggregation and its role in inherited disorders.
Read the paper here: https://doi.org/10.1038/s41467-021-22107-1