Article
Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.
Scientific reports - 20 Aug 2022
Sarodaya Neha, Tyagi Apoorvi, Kim Hyun-Jin, Kang Ju-Seop, Singh Vijai, Hong Seok-Ho, Kim Woo Jin, Kim Kye-Seong, Ramakrishna Suresh
Abstract excerpt
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 variants can have a certain amount of residual enzymatic activity that is sufficient for metabolism of Phe. However, accelerated...
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