Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants
Abstract Phenylalanine hydroxylase (PAH) is a key enzyme in mammals that maintains the phenylalanine (Phe) concentration at an appropriate physiological level. Some genetic mutations in the PAH gene lead to destabilization of the PAH enzyme, leading to phenylketonuria (PKU). Destabilized PAH variant...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-08-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-022-18656-0 |