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Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants
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 hav...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392723/ https://www.ncbi.nlm.nih.gov/pubmed/35987969 http://dx.doi.org/10.1038/s41598-022-18656-0 |